A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Loss of or impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions.
HORMONES secreted by the gastrointestinal mucosa that affect the timing or the quality of secretion of digestive enzymes, and regulate the motor activity of the digestive system organs.
Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
A fibroblast growth factor receptor with specificity for FIBROBLAST GROWTH FACTORS; HEPARAN SULFATE PROTEOGLYCAN; and NEURONAL CELL ADHESION MOLECULES. Several variants of the receptor exist due to multiple ALTERNATIVE SPLICING of its mRNA. Fibroblast growth factor receptor 1 is a tyrosine kinase that transmits signals through the MAP KINASE SIGNALING SYSTEM.
Macromolecular organic compounds that contain carbon, hydrogen, oxygen, nitrogen, and usually, sulfur. These macromolecules (proteins) form an intricate meshwork in which cells are embedded to construct tissues. Variations in the relative types of macromolecules and their organization determine the type of extracellular matrix, each adapted to the functional requirements of the tissue. The two main classes of macromolecules that form the extracellular matrix are: glycosaminoglycans, usually linked to proteins (proteoglycans), and fibrous proteins (e.g., COLLAGEN; ELASTIN; FIBRONECTINS; and LAMININ).
A characteristic symptom complex.
A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the hypothalamic and other diencephalic structures, and HYPOPITUITARISM.
An involuntary movement accompanying a volitional movement. It often refers to facial movements that accompany FACIAL PARALYSIS.
Cell surface receptors that bind peptide messengers with high affinity and regulate intracellular signals which influence the behavior of cells.
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
'Nerve tissue proteins' are specialized proteins found within the nervous system's biological tissue, including neurofilaments, neuronal cytoskeletal proteins, and neural cell adhesion molecules, which facilitate structural support, intracellular communication, and synaptic connectivity essential for proper neurological function.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Ovoid body resting on the CRIBRIFORM PLATE of the ethmoid bone where the OLFACTORY NERVE terminates. The olfactory bulb contains several types of nerve cells including the mitral cells, on whose DENDRITES the olfactory nerve synapses, forming the olfactory glomeruli. The accessory olfactory bulb, which receives the projection from the VOMERONASAL ORGAN via the vomeronasal nerve, is also included here.
The largest family of cell surface receptors involved in SIGNAL TRANSDUCTION. They share a common structure and signal through HETEROTRIMERIC G-PROTEINS.
A decapeptide that stimulates the synthesis and secretion of both pituitary gonadotropins, LUTEINIZING HORMONE and FOLLICLE STIMULATING HORMONE. GnRH is produced by neurons in the septum PREOPTIC AREA of the HYPOTHALAMUS and released into the pituitary portal blood, leading to stimulation of GONADOTROPHS in the ANTERIOR PITUITARY GLAND.
Peptides released by NEURONS as intercellular messengers. Many neuropeptides are also hormones released by non-neuronal cells.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The female reproductive organs. The external organs include the VULVA; BARTHOLIN'S GLANDS; and CLITORIS. The internal organs include the VAGINA; UTERUS; OVARY; and FALLOPIAN TUBES.
The reproductive organ (GONADS) in female animals. In vertebrates, the ovary contains two functional parts: the OVARIAN FOLLICLE for the production of female germ cells (OOGENESIS); and the endocrine cells (GRANULOSA CELLS; THECA CELLS; and LUTEAL CELLS) for the production of ESTROGENS and PROGESTERONE.
The yellow body derived from the ruptured OVARIAN FOLLICLE after OVULATION. The process of corpus luteum formation, LUTEINIZATION, is regulated by LUTEINIZING HORMONE.
The biological science concerned with the life-supporting properties, functions, and processes of living organisms or their parts.
The hollow thick-walled muscular organ in the female PELVIS. It consists of the fundus (the body) which is the site of EMBRYO IMPLANTATION and FETAL DEVELOPMENT. Beyond the isthmus at the perineal end of fundus, is CERVIX UTERI (the neck) opening into VAGINA. Beyond the isthmi at the upper abdominal end of fundus, are the FALLOPIAN TUBES.
A gonadotropic glycoprotein hormone produced primarily by the PLACENTA. Similar to the pituitary LUTEINIZING HORMONE in structure and function, chorionic gonadotropin is involved in maintaining the CORPUS LUTEUM during pregnancy. CG consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is virtually identical to the alpha subunits of the three pituitary glycoprotein hormones (TSH, LH, and FSH), but the beta subunit is unique and confers its biological specificity (CHORIONIC GONADOTROPIN, BETA SUBUNIT, HUMAN).
A book is not a medical term, but generally refers to a set of printed or written sheets of paper bound together that can contain a wide range of information including literature, research, educational content, and more, which may be utilized in the medical field for various purposes such as learning, reference, or patient education.

Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature. (1/110)

A sibship is described where the brother and a sister both have Kallmann's syndrome (anosmia and deficiency of gonadotrophin releasing hormone) and the woman also has streak ovaries. Although there are several conditions that may occur with Kallmann's syndrome, there are no known reports of ovarian dysgenesis being associated with this disorder. Cytogenetic analysis showed no rearrangement or major deletions of the chromosomes. Linkage analysis using informative microsatellite markers predicts that a gene other than KAL1 (at Xp22.3) is implicated in the Kallmann's syndrome manifesting concurrently with ovarian dysgenesis found in this family.  (+info)

Developmental and genetic disorders in spermatogenesis. (2/110)

The most common cause of male infertility is idiopathic. Fresh insights based on genetic and molecular analysis of the human genome permit classification of formerly unexplained disorders in spermatogenesis. In this article, we review new procedures that expand diagnostic and therapeutic approaches to male infertility. Recombinant DNA technology makes it possible to detect specific chromosomal and/or genetic defects among infertile patients. The identification of genes linked to disorders in spermatogenesis and male sexual differentiation has increased exponentially in the past decade. Genetic defects leading to male factor infertility can now be explained at the molecular level, even though the germ cell profile of infertile patients is too variable to permit classification of the clinical phenotype. Increasing knowledge of genes that direct spermatogenesis provides important new information about the molecular and cellular events involved in human spermatogenesis. Molecular analysis of chromosomes and/or genes of infertile patients offers unique opportunities to uncover the aetiology of genetic disorders in spermatogenesis. Increasing numbers of cases, previously classified as idiopathic, can now be diagnosed to facilitate the treatment of infertile men. Advanced knowledge also poses ethical dilemmas, since children conceived with assisted reproductive technologies such as intracytoplasmic sperm injection (ICSI) are at risk for congenital abnormalities, unbalanced complements of chromosomes and male infertility.  (+info)

Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome. (3/110)

Kallmann syndrome is a developmental disease characterized by gonadotropin-releasing hormone (GnRH) deficiency and olfactory bulb hypoplasia. The gene underlying the X chromosome-linked form, KAL-1, has been identified for several years, yet the pathogenesis of the disease is not understood. By immunohistofluorescence and immunoelectron microscopy, we establish that the KAL-1 encoded protein, anosmin-1, is a transient and regionally restricted component of extracellular matrices during organogenesis in man. Anosmin-1 was detected in the basement membranes and/or interstitial matrices of various structures including bronchial tubes, mesonephric tubules and duct, branches of the ureteric bud, muscular walls of the digestive tract and larger blood vessels, precartilaginous models of skeletal pieces, muscle tendons, head mesenchymes, inner ear, and forebrain subregions. Our results suggest that this protein acts as a local, rather than a long-range, cue during organogenesis. In the olfactory system, anosmin-1 was detected from week 5 onward. The protein was restricted to the olfactory bulb presumptive region and later, to the primitive olfactory bulbs. We therefore suggest that the genetic defect underlying X-linked Kallmann syndrome disrupts the terminal navigation of the early olfactory axons or directly affects the initial steps of olfactory bulb differentiation. The mechanism of the GnRH deficiency is also discussed, relying on the evidence that anosmin-1 is present in the medial walls of the primitive cerebral hemispheres, along the rostro-caudal migratory pathway of the GnRH-synthesizing neurons, at 6 weeks. Finally, the present results strongly suggest that the renal aplasia observed in about one third of the affected individuals results from primary failure of the collecting duct system.  (+info)

Episodic leptin release is independent of luteinizing hormone secretion. (4/110)

Several studies suggest that leptin modulates hypothalamic-pituitary-gonadal axis functions. Leptin may stimulate release of gonadotrophin releasing hormone (GnRH) from the hypothalamus and of gonadotrophins from the pituitary. A synchronicity of luteinizing hormone (LH) and leptin pulses has been described in healthy women and in patients with polycystic ovarian syndrome, suggesting that leptin may modulate the episodic secretion of LH. However, it has not been established whether LH regulates the episodic secretion of leptin. To further examine LH-leptin interactions, we studied the episodic fluctuations of circulating LH and leptin in two patients with Kallmann's syndrome (KS) before and on day 7 of pulsatile GnRH administration, and compared these with those observed in the early follicular phase of 10 regularly menstruating women divided into two control groups according to the body mass index of each patient. To assess episodic hormone secretion, blood samples were collected at 10 min intervals for 6 h, before and on day 7 of GnRH administration in KS patients, and during days 3-7 of the follicular phase in normally cycling women. LH and leptin concentrations were measured in all samples. For pulse analysis, the cluster algorithm was used. Before treatment, an apulsatile pattern with no endogenous LH pulsations was observed in both KS patients. However, leptin pulses were assessed in both women. During GnRH administration, pulsatile LH activity was achieved in both patients with pulse characteristics similar to those of the respective control group. Serum leptin concentrations and leptin pulsatile patterns were not modified. These results suggest that circulating leptin is probably not modulated by pulsatile GnRH-LH secretion.  (+info)

Characterization of the two zebrafish orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome. (5/110)

The gene underlying X chromosome-linked Kallmann syndrome, KAL-1, has been identified for several years, yet its role in development is still poorly understood. In order to take advantage of the zebrafish as a model in developmental genetics, we isolated the two KAL-1 orthologues, kal1.1 and kal1.2, in this species. Comparison of deduced protein sequences with the human one shows 75.5 and 66.5% overall homology, respectively. The most conserved domains are the whey acidic protein-like domain and the first of four fibronectin-like type III repeats. However, kal1.2 putative protein lacks the basic C-terminal domain (20 residues) found in kal1.1 and KAL-1. The expressions of kal1.1 and kal1.2 were studied in the embryo between 6 and 96 hours post fertilization using whole-mount in situ hybridization. Although a few structures express both genes, kal1.1 and kal1.2 expression patterns are largely non-overlapping. Taken together, these patterns match fairly well those previously reported for human KAL-1 and chicken kal1. As regards the olfactory system, kal1.1 is expressed, from 37 h.p.f. onward, in the presumptive olfactory bulbs, whereas kal1.2 transcript is only detected, from 48 h.p.f., in the epithelium of the nasal cavity. The relevance of the zebrafish as an animal model for studying both the function of KAL-1 in normal development and the developmental failure leading to the olfactory defect in Kallmann syndrome, is discussed.  (+info)

A novel mutation of the KAL1 gene in Kallmann syndrome. (6/110)

Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia, for which three modes of transmission have been described: X-linked, autosomal recessive and autosomal dominant. The KAL1 gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. We report sequence analysis using PCR-direct sequencing method of the entire coding region and splice site junctions of the KAL1 gene in three males with Kallmann syndrome. We found a novel mutation in one case and no mutation in the other two cases. The mutation consisted of a C to T substitution in exon 1 converting codon 66 (CAG) encoding glutamine into a termination codon (TAG)/(Q66X). As a consequence of this mutation, the function of the KAL1 protein consisting of 680 amino acids was severely truncated so as to be consistent with Kallmann syndrome. As only this patient had unilateral renal hypoplasia among the three cases, this would suggest the existence of KAL1 gene mutation in this abnormality.  (+info)

Reactive control of precision grip does not depend on fast transcortical reflex pathways in X-linked Kallmann subjects. (7/110)

It has been shown that subjects maintain grasp stability by automatically regulating grip force in response to loads applied tangentially to a manipulandum held using a precision grip. Signals from cutaneous mechanoreceptors convey the information necessary for both the initiation and scaling of responses. The central neural pathways that support these grip reactions are unknown. However, the latency of the increase in force is similar to that of 'long-latency' transcortical reflexes recorded from muscles following muscle stretch or electrical stimulation of digital nerves. This study assessed the importance of fast transcortical pathways for reactive grip responses by examining these responses in subjects with X-linked Kallmann's syndrome (XKS). Subjects were selected whose corticospinal projection, as assessed by magnetic brain stimulation, is essentially ipsilateral, and in whom the long-latency reflex components following digital nerve stimulation are only found contralateral to the stimulated side. Despite this anomaly of the fast corticospinal pathway, these XKS subjects responded in the same way as control subjects; grip response latencies were similar and responses were appropriately scaled. However, the non-operating hand of these XKS subjects often mirrored the grip force changes of the operating hand. Reflex force mirroring was most marked during the first 50 ms and the force output was always less than 20 % of that of the operating hand. We conclude, firstly, that somatosensory driven precision grip responses that support grasp stability do not depend on fast conducting corticospinal pathways in these subjects and, secondly, that such responses do not use those 'long-latency' reflex pathways probed by cutaneomuscular reflexes elicited by electrical stimulation of digital nerves.  (+info)

A novel mutation of the KAL1 gene in monozygotic twins with Kallmann syndrome. (8/110)

OBJECTIVE: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 gene is responsible for the X-linked form of Kallmann syndrome. In this study we describe monozygotic twins with Kallmann syndrome due to the same mutation in the KAL1 gene. DESIGN: We studied male monozygotic twins with Kallmann syndrome. METHODS: We analyzed the KAL1 gene using the PCR-direct sequencing method. The twins' mother was examined for the identified mutation. RESULTS: We identified a 14 bp deletion from codon 419 in exon 9 (Pro419del14) in both KAL1 genes of the twins. This was a novel mutation in the KAL1 gene and was responsible for Kallmann syndrome. As Pro419del14 was not detected in the mother of the twins, Pro419del14 was a germline mutation originating from them. These monozygotic twins showed different LH and FSH responses to LH-RH stimulation and different phenotypes such as complications, physiques and psychiatric characters. CONCLUSIONS: We report an identical KAL1 gene mutation in the monozygotic twins with Kallmann syndrome. As these monozygotic twins showed different phenotypes in some respects, we suggest that factors other than mutations in the KAL1gene affect the symptomatic features of Kallmann syndrome.  (+info)

Kallmann Syndrome is a genetic condition that is characterized by hypogonadotropic hypogonadism (reduced or absent function of the gonads (ovaries or testes) due to deficient secretion of pituitary gonadotropins) and anosmia or hyposmia (reduced or absent sense of smell). It is caused by abnormal migration of neurons that produce gonadotropin-releasing hormone (GnRH) during fetal development, which results in decreased production of sex hormones and delayed or absent puberty.

Kallmann Syndrome can also be associated with other symptoms such as color vision deficiency, hearing loss, renal agenesis, and neurological defects. It is typically inherited in an autosomal dominant or X-linked recessive pattern, and diagnosis usually involves a combination of clinical evaluation, hormonal testing, and genetic analysis. Treatment may include hormone replacement therapy to induce puberty and maintain sexual function, as well as management of associated symptoms.

Hypogonadism is a medical condition characterized by the inability of the gonads (testes in males and ovaries in females) to produce sufficient amounts of sex hormones, such as testosterone and estrogen. This can lead to various symptoms including decreased libido, erectile dysfunction in men, irregular menstrual periods in women, and reduced fertility in both sexes. Hypogonadism may be caused by genetic factors, aging, injury to the gonads, or certain medical conditions such as pituitary disorders. It can be treated with hormone replacement therapy.

Olfaction disorders, also known as smell disorders, refer to conditions that affect the ability to detect or interpret odors. These disorders can be categorized into two main types:

1. Anosmia: This is a complete loss of the sense of smell. It can be caused by various factors such as nasal polyps, sinus infections, head injuries, and degenerative diseases like Alzheimer's and Parkinson's.
2. Hyposmia: This is a reduced ability to detect odors. Like anosmia, it can also be caused by similar factors including aging and exposure to certain chemicals.

Other olfaction disorders include parosmia, which is a distortion of smell where individuals may perceive a smell as being different from its original scent, and phantosmia, which is the perception of a smell that isn't actually present.

Gastrointestinal (GI) hormones are a group of hormones that are secreted by cells in the gastrointestinal tract in response to food intake and digestion. They play crucial roles in regulating various physiological processes, including appetite regulation, gastric acid secretion, motility of the gastrointestinal tract, insulin secretion, and pancreatic enzyme release.

Examples of GI hormones include:

* Gastrin: Secreted by G cells in the stomach, gastrin stimulates the release of hydrochloric acid from parietal cells in the stomach lining.
* Ghrelin: Produced by the stomach, ghrelin is often referred to as the "hunger hormone" because it stimulates appetite and food intake.
* Cholecystokinin (CCK): Secreted by I cells in the small intestine, CCK promotes digestion by stimulating the release of pancreatic enzymes and bile from the liver. It also inhibits gastric emptying and reduces appetite.
* Gastric inhibitory peptide (GIP): Produced by K cells in the small intestine, GIP promotes insulin secretion and inhibits glucagon release.
* Secretin: Released by S cells in the small intestine, secretin stimulates the pancreas to produce bicarbonate-rich fluid that neutralizes stomach acid in the duodenum.
* Motilin: Secreted by MO cells in the small intestine, motilin promotes gastrointestinal motility and regulates the migrating motor complex (MMC), which is responsible for cleaning out the small intestine between meals.

These hormones work together to regulate digestion and maintain homeostasis in the body. Dysregulation of GI hormones can contribute to various gastrointestinal disorders, such as gastroparesis, irritable bowel syndrome (IBS), and diabetes.

CHARGE syndrome is a genetic disorder that is associated with a variety of birth defects and medical issues. The name CHARGE is an acronym that stands for:

* Coloboma of the eye, which is a hole in the structure of the eye that is present at birth.
* Heart defects, which can range from mild to severe.
* Atresia of the choanae, which is the absence or closure of the nasal passages.
* Retardation of growth and/or development.
* Genital and/or urinary abnormalities.
* Ear abnormalities and deafness.

CHARGE syndrome is caused by mutations in the CHD7 gene, which is located on chromosome 8. This gene provides instructions for making a protein that is involved in the development of the eyes, ears, and other parts of the body. Mutations in the CHD7 gene can lead to the characteristic features of CHARGE syndrome.

CHARGE syndrome is typically diagnosed based on the presence of certain physical characteristics and medical issues. A genetic test can be done to confirm the diagnosis and identify the specific mutation that is causing the disorder.

Treatment for CHARGE syndrome depends on the severity of the symptoms and may include surgery, therapy, and other medical interventions. With appropriate care, many people with CHARGE syndrome are able to lead fulfilling lives.

Fibroblast Growth Factor Receptor 1 (FGFR1) is a type of receptor tyrosine kinase that plays a crucial role in various biological processes such as cell survival, proliferation, differentiation, and migration. It is a transmembrane protein that binds to fibroblast growth factors (FGFs), leading to the activation of intracellular signaling pathways.

FGFR1 is specifically involved in the regulation of embryonic development, tissue repair, and angiogenesis. Mutations in the FGFR1 gene have been associated with several human diseases, including various types of cancer, skeletal dysplasias, and developmental disorders.

In summary, Fibroblast Growth Factor Receptor 1 (FGFR1) is a cell surface receptor that binds to fibroblast growth factors (FGFs) and activates intracellular signaling pathways involved in various biological processes, including cell survival, proliferation, differentiation, and migration.

Extracellular matrix (ECM) proteins are a group of structural and functional molecules that provide support, organization, and regulation to the cells in tissues and organs. The ECM is composed of a complex network of proteins, glycoproteins, and carbohydrates that are secreted by the cells and deposited outside of them.

ECM proteins can be classified into several categories based on their structure and function, including:

1. Collagens: These are the most abundant ECM proteins and provide strength and stability to tissues. They form fibrils that can withstand high tensile forces.
2. Proteoglycans: These are complex molecules made up of a core protein and one or more glycosaminoglycan (GAG) chains. The GAG chains attract water, making proteoglycans important for maintaining tissue hydration and resilience.
3. Elastin: This is an elastic protein that allows tissues to stretch and recoil, such as in the lungs and blood vessels.
4. Fibronectins: These are large glycoproteins that bind to cells and ECM components, providing adhesion, migration, and signaling functions.
5. Laminins: These are large proteins found in basement membranes, which provide structural support for epithelial and endothelial cells.
6. Tenascins: These are large glycoproteins that modulate cell adhesion and migration, and regulate ECM assembly and remodeling.

Together, these ECM proteins create a microenvironment that influences cell behavior, differentiation, and function. Dysregulation of ECM proteins has been implicated in various diseases, including fibrosis, cancer, and degenerative disorders.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Septo-Optic Dysplasia (SOD) is a rare disorder that affects the development of the brain, eyes, and pituitary gland. It is also known as De Morsier's syndrome. The condition is characterized by underdevelopment of the optic nerve, which can lead to varying degrees of vision loss, from mild visual impairment to complete blindness.

The septum pellucidum, a part of the brain that separates the two hemispheres, may be absent or poorly formed in individuals with SOD. This can result in a range of neurological symptoms, including developmental delays, intellectual disability, and movement disorders.

Additionally, SOD is often associated with pituitary gland dysfunction, which can lead to hormonal imbalances and growth problems. Treatment for SOD typically involves managing the individual symptoms and may include vision therapy, special education services, and hormone replacement therapy.

Synkinesis is a medical term that refers to an involuntary and abnormal movement or contraction of one muscle group that occurs in conjunction with voluntary movement of another muscle group. This condition often arises as a result of nerve injury or regeneration, where the nerves that control facial movements become crossed, causing the muscles to move together unintentionally.

For example, when a person with synkinesis tries to smile, they may also involuntarily blink or raise their eyebrows. This can lead to functional impairments and cosmetic concerns, particularly in cases of facial nerve palsy or Bell's palsy. Treatment for synkinesis typically involves physical therapy, botulinum toxin (Botox) injections, or surgical intervention to help restore normal muscle function and movement.

Peptide receptors are a type of cell surface receptor that bind to peptide hormones and neurotransmitters. These receptors play crucial roles in various physiological processes, including regulation of appetite, pain perception, immune function, and cardiovascular homeostasis. Peptide receptors belong to the G protein-coupled receptor (GPCR) superfamily or the tyrosine kinase receptor family. Upon binding of a peptide ligand, these receptors activate intracellular signaling cascades that ultimately lead to changes in cell behavior and communication with other cells.

Peptide receptors can be classified into two main categories: metabotropic and ionotropic. Metabotropic peptide receptors are GPCRs, which activate intracellular signaling pathways through coupling with heterotrimeric G proteins. These receptors typically have seven transmembrane domains and undergo conformational changes upon ligand binding, leading to the activation of downstream effectors such as adenylyl cyclase, phospholipase C, or ion channels.

Ionotropic peptide receptors are ligand-gated ion channels that directly modulate ion fluxes across the cell membrane upon ligand binding. These receptors contain four or five subunits arranged around a central pore and undergo conformational changes to allow ion flow through the channel.

Examples of peptide receptors include:

1. Opioid receptors (μ, δ, κ) - bind endogenous opioid peptides such as enkephalins, endorphins, and dynorphins to modulate pain perception and reward processing.
2. Somatostatin receptors (SSTR1-5) - bind somatostatin and cortistatin to regulate hormone secretion, cell proliferation, and angiogenesis.
3. Neuropeptide Y receptors (Y1-Y5) - bind neuropeptide Y to modulate feeding behavior, energy metabolism, and cardiovascular function.
4. Calcitonin gene-related peptide receptor (CGRP-R) - binds calcitonin gene-related peptide to mediate vasodilation and neurogenic inflammation.
5. Bradykinin B2 receptor (B2R) - binds bradykinin to induce pain, inflammation, and vasodilation.
6. Vasoactive intestinal polypeptide receptors (VPAC1, VPAC2) - bind vasoactive intestinal peptide to regulate neurotransmission, hormone secretion, and smooth muscle contraction.
7. Oxytocin receptor (OXTR) - binds oxytocin to mediate social bonding, maternal behavior, and uterine contractions during childbirth.
8. Angiotensin II type 1 receptor (AT1R) - binds angiotensin II to regulate blood pressure, fluid balance, and cell growth.

Chondrodysplasia punctata is a group of genetic disorders that affect the development of bones and cartilage. The condition is characterized by stippled calcifications, or spots of calcium deposits, in the cartilage that can be seen on X-rays. These spots are typically found at the ends of long bones, in the sternum, and in the pelvis.

The symptoms of chondrodysplasia punctata can vary widely depending on the specific type of the disorder. Some people with the condition may have short stature, bowed legs, and other skeletal abnormalities, while others may have only mild symptoms or no symptoms at all. The condition can also be associated with developmental delays, intellectual disability, and other health problems.

There are several different types of chondrodysplasia punctata, each caused by a different genetic mutation. Some forms of the disorder are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Other forms of chondrodysplasia punctata are inherited in an X-linked dominant manner, meaning that a single copy of the mutated gene (on the X chromosome) is enough to cause the disorder in females. Males, who have only one X chromosome, will typically be more severely affected by X-linked dominant disorders.

There is no cure for chondrodysplasia punctata, and treatment is focused on managing the symptoms of the condition. This may include physical therapy, bracing or surgery to correct skeletal abnormalities, and medications to manage pain or other health problems.

Nerve tissue proteins are specialized proteins found in the nervous system that provide structural and functional support to nerve cells, also known as neurons. These proteins include:

1. Neurofilaments: These are type IV intermediate filaments that provide structural support to neurons and help maintain their shape and size. They are composed of three subunits - NFL (light), NFM (medium), and NFH (heavy).

2. Neuronal Cytoskeletal Proteins: These include tubulins, actins, and spectrins that provide structural support to the neuronal cytoskeleton and help maintain its integrity.

3. Neurotransmitter Receptors: These are specialized proteins located on the postsynaptic membrane of neurons that bind neurotransmitters released by presynaptic neurons, triggering a response in the target cell.

4. Ion Channels: These are transmembrane proteins that regulate the flow of ions across the neuronal membrane and play a crucial role in generating and transmitting electrical signals in neurons.

5. Signaling Proteins: These include enzymes, receptors, and adaptor proteins that mediate intracellular signaling pathways involved in neuronal development, differentiation, survival, and death.

6. Adhesion Proteins: These are cell surface proteins that mediate cell-cell and cell-matrix interactions, playing a crucial role in the formation and maintenance of neural circuits.

7. Extracellular Matrix Proteins: These include proteoglycans, laminins, and collagens that provide structural support to nerve tissue and regulate neuronal migration, differentiation, and survival.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

The olfactory bulb is the primary center for the sense of smell in the brain. It's a structure located in the frontal part of the brain, specifically in the anterior cranial fossa, and is connected to the nasal cavity through tiny holes called the cribriform plates. The olfactory bulb receives signals from olfactory receptors in the nose that detect different smells, processes this information, and then sends it to other areas of the brain for further interpretation and perception of smell.

G-protein-coupled receptors (GPCRs) are a family of membrane receptors that play an essential role in cellular signaling and communication. These receptors possess seven transmembrane domains, forming a structure that spans the lipid bilayer of the cell membrane. They are called "G-protein-coupled" because they interact with heterotrimeric G proteins upon activation, which in turn modulate various downstream signaling pathways.

When an extracellular ligand binds to a GPCR, it causes a conformational change in the receptor's structure, leading to the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP) on the associated G protein's α subunit. This exchange triggers the dissociation of the G protein into its α and βγ subunits, which then interact with various effector proteins to elicit cellular responses.

There are four main families of GPCRs, classified based on their sequence similarities and downstream signaling pathways:

1. Gq-coupled receptors: These receptors activate phospholipase C (PLC), which leads to the production of inositol trisphosphate (IP3) and diacylglycerol (DAG). IP3 induces calcium release from intracellular stores, while DAG activates protein kinase C (PKC).
2. Gs-coupled receptors: These receptors activate adenylyl cyclase, which increases the production of cyclic adenosine monophosphate (cAMP) and subsequently activates protein kinase A (PKA).
3. Gi/o-coupled receptors: These receptors inhibit adenylyl cyclase, reducing cAMP levels and modulating PKA activity. Additionally, they can activate ion channels or regulate other signaling pathways through the βγ subunits.
4. G12/13-coupled receptors: These receptors primarily activate RhoGEFs, which in turn activate RhoA and modulate cytoskeletal organization and cellular motility.

GPCRs are involved in various physiological processes, including neurotransmission, hormone signaling, immune response, and sensory perception. Dysregulation of GPCR function has been implicated in numerous diseases, making them attractive targets for drug development.

Gonadotropin-Releasing Hormone (GnRH), also known as Luteinizing Hormone-Releasing Hormone (LHRH), is a hormonal peptide consisting of 10 amino acids. It is produced and released by the hypothalamus, an area in the brain that links the nervous system to the endocrine system via the pituitary gland.

GnRH plays a crucial role in regulating reproduction and sexual development through its control of two gonadotropins: follicle-stimulating hormone (FSH) and luteinizing hormone (LH). These gonadotropins, in turn, stimulate the gonads (ovaries or testes) to produce sex steroids and eggs or sperm.

GnRH acts on the anterior pituitary gland by binding to its specific receptors, leading to the release of FSH and LH. The hypothalamic-pituitary-gonadal axis is under negative feedback control, meaning that when sex steroid levels are high, they inhibit the release of GnRH, which subsequently decreases FSH and LH secretion.

GnRH agonists and antagonists have clinical applications in various medical conditions, such as infertility treatments, precocious puberty, endometriosis, uterine fibroids, prostate cancer, and hormone-responsive breast cancer.

Neuropeptides are small protein-like molecules that are used by neurons to communicate with each other and with other cells in the body. They are produced in the cell body of a neuron, processed from larger precursor proteins, and then transported to the nerve terminal where they are stored in secretory vesicles. When the neuron is stimulated, the vesicles fuse with the cell membrane and release their contents into the extracellular space.

Neuropeptides can act as neurotransmitters or neuromodulators, depending on their target receptors and the duration of their effects. They play important roles in a variety of physiological processes, including pain perception, appetite regulation, stress response, and social behavior. Some neuropeptides also have hormonal functions, such as oxytocin and vasopressin, which are produced in the hypothalamus and released into the bloodstream to regulate reproductive and cardiovascular function, respectively.

There are hundreds of different neuropeptides that have been identified in the nervous system, and many of them have multiple functions and interact with other signaling molecules to modulate neural activity. Dysregulation of neuropeptide systems has been implicated in various neurological and psychiatric disorders, such as chronic pain, addiction, depression, and anxiety.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Female genitalia refer to the reproductive and sexual organs located in the female pelvic region. They are primarily involved in reproduction, menstruation, and sexual activity. The external female genitalia, also known as the vulva, include the mons pubis, labia majora, labia minora, clitoris, and the external openings of the urethra and vagina. The internal female genitalia consist of the vagina, cervix, uterus, fallopian tubes, and ovaries. These structures work together to facilitate menstruation, fertilization, pregnancy, and childbirth.

An ovary is a part of the female reproductive system in which ova or eggs are produced through the process of oogenesis. They are a pair of solid, almond-shaped structures located one on each side of the uterus within the pelvic cavity. Each ovary measures about 3 to 5 centimeters in length and weighs around 14 grams.

The ovaries have two main functions: endocrine (hormonal) function and reproductive function. They produce and release eggs (ovulation) responsible for potential fertilization and development of an embryo/fetus during pregnancy. Additionally, they are essential in the production of female sex hormones, primarily estrogen and progesterone, which regulate menstrual cycles, sexual development, and reproduction.

During each menstrual cycle, a mature egg is released from one of the ovaries into the fallopian tube, where it may be fertilized by sperm. If not fertilized, the egg, along with the uterine lining, will be shed, leading to menstruation.

The corpus luteum is a temporary endocrine structure that forms in the ovary after an oocyte (egg) has been released from a follicle during ovulation. It's formed by the remaining cells of the ruptured follicle, which transform into large, hormone-secreting cells.

The primary function of the corpus luteum is to produce progesterone and, to a lesser extent, estrogen during the menstrual cycle or pregnancy. Progesterone plays a crucial role in preparing the uterus for potential implantation of a fertilized egg and maintaining the early stages of pregnancy. If pregnancy does not occur, the corpus luteum will typically degenerate and stop producing hormones after approximately 10-14 days, leading to menstruation.

However, if pregnancy occurs, the developing embryo starts to produce human chorionic gonadotropin (hCG), which signals the corpus luteum to continue secreting progesterone and estrogen until the placenta takes over hormonal production, usually around the end of the first trimester.

Physiology is the scientific study of the normal functions and mechanisms of living organisms, including all of their biological systems, organs, cells, and biomolecules. It focuses on how various bodily functions are regulated, coordinated, and integrated to maintain a healthy state in an organism. This field encompasses a wide range of areas such as cellular physiology, neurophysiology, cardiovascular physiology, respiratory physiology, renal physiology, endocrine physiology, reproductive physiology, and exercise physiology, among others. Physiologists use a combination of experimental and theoretical approaches to understand the principles underlying normal biological function and to investigate how these functions are altered in various disease states.

The uterus, also known as the womb, is a hollow, muscular organ located in the female pelvic cavity, between the bladder and the rectum. It has a thick, middle layer called the myometrium, which is composed of smooth muscle tissue, and an inner lining called the endometrium, which provides a nurturing environment for the fertilized egg to develop into a fetus during pregnancy.

The uterus is where the baby grows and develops until it is ready for birth through the cervix, which is the lower, narrow part of the uterus that opens into the vagina. The uterus plays a critical role in the menstrual cycle as well, by shedding its lining each month if pregnancy does not occur.

Chorionic Gonadotropin (hCG) is a hormone that is produced during pregnancy. It is produced by the placenta after implantation of the fertilized egg in the uterus. The main function of hCG is to prevent the disintegration of the corpus luteum, which is a temporary endocrine structure that forms in the ovary after ovulation and produces progesterone during early pregnancy. Progesterone is essential for maintaining the lining of the uterus and supporting the pregnancy.

hCG can be detected in the blood or urine as early as 10 days after conception, and its levels continue to rise throughout the first trimester of pregnancy. In addition to its role in maintaining pregnancy, hCG is also used as a clinical marker for pregnancy and to monitor certain medical conditions such as gestational trophoblastic diseases.

I apologize for any confusion, but "books" is a general term that refers to bound sets of pages that are printed or written with text, illustrations, or signs, and are meant to be read, studied, or consulted. It does not have a specific medical definition. If you're looking for information about a specific medical term or concept, please let me know and I'd be happy to help!

... of all Kallmann syndrome/CHH cases. The underlying cause of Kallmann syndrome or other forms of hypogonadotropic hypogonadism ... Kallmann syndrome was first described by name in a paper published in 1944 by Franz Josef Kallmann, a German-American ... Kallmann syndrome was first described by name in a paper published in 1944 by Franz Josef Kallmann, a German-American ... Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann ...
Mitchell AL, Dwyer A, Pitteloud N, Quinton R (2011). "Genetic basis and variable phenotypic expression of Kallmann syndrome: ... Kallmann syndrome Hypogonadotropic hypogonadism GnRH Isolated hypogonadotropic hypogonadism Layman L. (2013). "Clinical Testing ... Kallmann Syndrome) Alters GnRH Neuronal Migration". Endocrinology. 157 (5): 1956-66. doi:10.1210/en.2015-1846. PMC 4870868. ... "Mutations in FEZF1 cause Kallmann syndrome". American Journal of Human Genetics. 95 (3): 326-31. doi:10.1016/j.ajhg.2014.08.006 ...
Kallmann syndrome (KS), a rare genetic disorder, refers to the association between hypogonadotropic hypogonadism and anosmia or ... Arkoncel, ML; Arkoncel, FR; Lantion-Ang, FL (March 2011). "A case of Kallmann syndrome". BMJ Case Reports. 2011: bcr0120113727 ... Lifelong hyposmia could be caused by Kallmann syndrome or Autism Spectrum Disorder. Along with other chemosensory disturbances ...
A loss of function mutation in FEZF1 causes Kallmann Syndrome. As axons are developing and migrating in the early embryo, FEZF1 ... the hallmark of Kallmann Syndrome. GRCh38: Ensembl release 89: ENSG00000128610 - Ensembl, May 2017 GRCm38: Ensembl release 89: ... "Mutations in FEZF1 cause Kallmann syndrome". American Journal of Human Genetics. 95 (3): 326-31. doi:10.1016/j.ajhg.2014.08.006 ...
Nervenarzt 2: 149-53 (1929) Kallmann syndrome "Who was who in America". Marquis-Who's Who. 17 February 1968 - via Google Books ... Kallmann was born in Neumarkt, Silesia, the son of Marie (née Mordze / Modrey) and Bruno Kallmann, who was a surgeon and ... that has come to be known as Kallmann's syndrome. He was a member of the American Eugenics Movement during the first half of ... Franz Josef Kallmann, MD (July 24, 1897 - May 12, 1965), a German-born American psychiatrist, was one of the pioneers in the ...
It is also used in the treatment of primary hypothalamic amenorrhea, hypogonadotropic hypogonadism (e.g., Kallmann syndrome), ... of gonadorelin in the treatment of hypogonadotropic hypogonadism in patients with pituitary stalk interruption syndrome: cases ...
Polycystic ovary syndrome, and Kallmann syndrome, also called hypogonadotropic hypogonadism. Hemochromatosis and diabetes ... Noonan syndrome, Turner syndrome (45X,0), Klinefelter syndrome (47XXY), XY with SRY gene-immunity Secondary - defect lies ... Turner syndrome and Klinefelter syndrome. It is also one of the signs of CHARGE syndrome. Examples of acquired causes of ... Examples include Klinefelter syndrome and Turner syndrome. Mumps is known to cause testicular failure, and in recent years has ...
Kallmann syndrome Maestre de San Juan, Aureliano (1856). "Teratolagia: falta total de los nervios olfactorios con anosmia en un ... He is credited as being one of the first scientists to recognize the disorder known as Kallmann syndrome. He died in 1890, ...
... as seen in polycystic ovary syndrome (PCOS). GnRH formation is congenitally absent in Kallmann syndrome. At the pituitary, GnRH ...
ISBN 9780878936953.{{cite book}}: CS1 maint: location missing publisher (link) "Kallmann syndrome". Genetics Home Reference. US ... Anosmia either total or partial is a symptom of Kallmann syndrome a genetic disorder that results in disruption of the ...
Mutations in this gene cause the X-linked Kallmann Syndrome. The encoded protein is similar in sequence to proteins known to ... "Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome". The Journal of Clinical ... "Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2 ... "The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH ...
October 2006). "Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2". PLOS Genetics. ... Prokineticin receptor Kallmann syndrome GRCh38: Ensembl release 89: ENSG00000101292 - Ensembl, May 2017 GRCm38: Ensembl release ... GeneReviews/NCBI/NIH/UW entry on Kallmann syndrome "Prokineticin Receptors: PKR2". IUPHAR Database of Receptors and Ion ...
Of note, the X-linked form of Kallmann syndrome (KS) form of GnRH insensitivity relating to mutations in the ANOS1 gene has the ... Congenital Causes Genetic Mutations Kallmann syndrome ANOS1 (formerly KAL1), X-linked recessive KS SOX10 (SRY-box 10 gene), ... affecting approximately 3 percent of adolescents while the incidence of the Kallmann syndrome (KS) form of GnRH insensitivity ... phenotypic features and molecular genetics of Kallmann syndrome in Finland". Orphanet Journal of Rare Diseases. 6: 41. doi: ...
Clinically, mutation results in the X-linked form of Kallmann syndrome. Individuals with Kallmann syndrome experience anosmia ( ... Absence or damage to the protein results in Kallmann syndrome in humans, which is characterized by loss of olfactory bulbs and ... Mutations of ANOS1 may account for 14% of the cases of familial Kallmann syndrome and 11% of male sporadic cases. Endo Y, ... GeneReviews/NCBI/NIH/UW entry on Kallmann syndrome NextBio.com GenAtlas (Articles with short description, Short description is ...
Kallmann syndrome is also associated with a lack of sense of smell (anosmia). Kallmann syndrome and other forms of HH affect ... One possible cause of a delay in the onset of puberty past the age 14 in females and 15 in males is Kallmann syndrome, a form ... "Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory". Trends Endocrinol. Metab. 22 ... Adolescent sexuality Child sexuality Delayed puberty Eunuch Hebephilia Kallmann syndrome Precocious puberty Puberphonia Puberty ...
Kallmann syndrome and IHH with normal smell (normosmic IHH). Kallmann syndrome is responsible for approximately 50% of all ... In Kallmann syndrome, a variable non-reproductive phenotype occurs with anosmia (loss of the sense of smell) including ... Insulin-like peptide 3 (INSL3) in men with congenital hypogonadotropic hypogonadism/Kallmann syndrome and effects of different ... Hypogonadotropic hypogonadism Hypergonadotropic hypogonadism Kallmann syndrome Genetics of GnRH deficiency conditions HPG axis ...
In association with other abnormalities, mirror hand movements are a hallmark of Kallmann syndrome. Genetic mutations ... Rarely, it occurs as part of syndromes with neuroendocrine problems, such as Kallman syndrome. The prognosis is usually good ... The exception is when it is congenitally acquired as in Duane-Retraction Syndrome and Marcus Gunn phenomenon.) Trauma to the ... A more specific synkinesis, crocodile tears syndrome (hyperlacrimation upon eating), has been shown to respond exceedingly well ...
He grew up with a rare endocrine disorder, Kallmann syndrome, which prevented his body from entering puberty; he later wrote a ... In 2004 Brett published a book, Uproar's Your Only Music, about his struggles with Kallmann syndrome. In November 2009, Brett ... He takes testosterone to mitigate the effects of Kallmann syndrome, which include pain and osteoperosis. Fossil Ground at ...
"CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome". Clinical ... cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome". American Journal of Human Genetics. 83 (4): 511-9. doi: ... Wincent J, Schulze A, Schoumans J (2009). "Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical ... Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA (Oct 2008). "A familial CHARGE syndrome with a CHD7 ...
This failure of GnRH neurons to migrate into the brain is the main cause of Kallmann Syndrome. GABA, which depolarizes ... These disruptions to the GnRH system cause reproductive disorders like hypogonadotropic hypogonadism or Kallmann Syndrome. In ... genetic defects in different hypogonadotropic hypogonadal syndromes" (PDF). Frontiers in Endocrinology. 5: 109. doi:10.3389/ ...
These include Turner syndrome, Klinefelter syndrome, Kallmann syndrome, anorexia nervosa, andropause, hypothalamic amenorrhea ... Ehlers-Danlos syndrome, porphyria, Menkes' syndrome, epidermolysis bullosa and Gaucher's disease. People with scoliosis of ... Osteoporosis is a part of frailty syndrome. There is an increased risk of falls associated with aging. These falls can lead to ... Bone loss can be a feature of complex regional pain syndrome. It is also more frequent in people with Parkinson's disease and ...
Of note, X-linked ichthyosis is associated with Kallmann syndrome (close to the KAL1 gene). The most common or well-known types ... One case with symptoms matching CHILD syndrome has been described as having a likely-different cause. Treatments for ichthyosis ... Skin disease Ichthyosis en confetti List of cutaneous conditions List of cutaneous neoplasms associated with systemic syndromes ... one of which is limb reduction defect known as CHILD syndrome, a rare inborn error of metabolism of cholesterol biosynthesis ...
Kallmann syndrome results in a loss of smell (anosmia) and is associated with KAL1 mutations. The KAL1 gene encodes anosmin-1, ... Kallmann syndrome can also be shown through MRI imaging with irregular morphology or aplasia of the olfactory bulb and ... Another clinical sign of CHH, more specifically Kallmann syndrome, is a lack of a sense of smell due to the altered migration ... CHH is divided into 2 subtypes depending on the condition of the olfactory system, anosmic HH (Kallman syndrome) and normosmic ...
... in Kallmann syndrome or Parkinson's disease. A blocked sinus ostium, an opening from a paranasal sinus, will cause fluid to ... Down syndrome commonly presents a small nose with a flattened nasal bridge. This can be due to the absence of one or both nasal ... Werner syndrome, a condition associated with premature aging, causes a "bird-like" appearance due to pinching of the nose. ... eds.). Werner Syndrome. PMID 20301687. Archived from the original on 2017-01-18. Retrieved 2017-08-31 - via NCBI. {{cite book ...
GeneReviews/NCBI/NIH/UW entry on Kallmann syndrome FGF8 human gene location in the UCSC Genome Browser. FGF8 human gene details ... and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes". American Journal of Medical ...
Hypothalamic disorders include Prader-Willi syndrome and Kallmann syndrome, but the most common cause of hypogonadotropic ... Developmental milestones Endocrinology Puberty Constitutional growth delay Hypogonadism Kallmann syndrome Turner syndrome ... Lacking the sense of smell (anosmia) along with delayed puberty are strong clinical indications for Kallmann syndrome. ... Turner syndrome has unique diagnostic features including a webbed neck, short stature, shield chest, and low hairline. ...
Kallmann syndrome is recognized by anosmia associated with mental retardation, hypogonadism, and the failure of the olfactory ... As a result, neuronal migration syndromes are difficult to classify. The largest class of neuronal migration syndromes is ... Zellweger Syndrome is characterized by a cortical dysplasia similar to polymicrogyria of cerebral and cerebellar cortex, ...
German-born American psychiatrist Kallmann syndrome Gerhard Kallmann (1915-2012), German-born American architect and academic ... United States Hans Jürgen Kallmann (1908-1991), German artist Hartmut Kallmann (1896-1978), German physicist Helmut Kallmann ( ... Kallmann is a German surname that may refer to Franz Josef Kallmann (1897-1965), ... Canadian musicologist and librarian Kallman Callmann This disambiguation page lists articles associated with the title Kallmann ...
A shortened fourth metacarpal bone can be a symptom of Kallmann syndrome, a genetic condition which results in the failure to ... A short fourth metacarpal bone can also be found in Turner syndrome, a disorder involving sex chromosomes. A fracture of the ...
... it is also possible that he had Kallmann syndrome. Whatever the cause, his unusual situation would allow him to hold roles for ...
... of all Kallmann syndrome/CHH cases. The underlying cause of Kallmann syndrome or other forms of hypogonadotropic hypogonadism ... Kallmann syndrome was first described by name in a paper published in 1944 by Franz Josef Kallmann, a German-American ... Kallmann syndrome was first described by name in a paper published in 1944 by Franz Josef Kallmann, a German-American ... Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann ...
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. Explore symptoms, ... medlineplus.gov/genetics/condition/kallmann-syndrome/ Kallmann syndrome. ... When Kallmann syndrome is caused by ANOS1 gene mutations, the condition has an X-linked recessive pattern. of inheritance. The ... Kallmann syndrome can have a wide variety of additional signs and symptoms. These include a failure of one kidney to develop ( ...
While Kallmann syndrome-associated mutations have been identified in some sets of patients, for many of these individuals, the ... Kallmann syndrome is an inherited deficiency of gonadotropin-releasing hormone (GnRH) that is characterized by hypogonadism ... The results of this study offer important insight into the development of Kallmann syndrome and provide tools for elucidating ... in two brothers with Kallmann syndrome. In animal models, loss of SEMA3E signaling recapitulated phenotypes of the probands and ...
Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass ... Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism * Sections Kallmann Syndrome and Idiopathic Hypogonadotropic ... encoded search term (Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism) and Kallmann Syndrome and Idiopathic ... Neurologic manifestations: Anosmia or hyposmia occurs in all Kallmann syndrome cases. Some patients with Kallmann syndrome or ...
Kallmann Syndrome: Eugenics and the Man behind the Eponym Medicine and Society Kallmann Syndrome: Eugenics and the Man behind ... Kallmann syndrome is named after Franz Joseph Kallmann, a German-born psychiatrist who described in 1944 twelve subjects from ... Yet, several other eponyms for the same syndrome can be found in the literature. Despite the fact that Kallmann syndrome is the ... A biographical note on Franz Joseph Kallmann and his historical context is presented. ...
Kallmann syndrome 1 consists of congenital, isolated, idiopathic hypogonadotropic hypogonadism and anosmia. A completed test ... Kallmann Syndrome 1 (KAL1). Indications for Kallmann Syndrome 1 (KAL1) Kallmann syndrome 1 consists of congenital, isolated, ... Laboratory Testing for Kallmann Syndrome 1 Syndrome is performed on metaphase chromosomes utilizing Fluorescence in situ ...
Learn and reinforce your understanding of Kallmann syndrome. ... Kallmann syndrome p. 509, 658. Puberty. Kallmann syndrome and p ... Kallmann syndrome Videos, Flashcards, High Yield Notes, & Practice Questions. ... Kallmann syndrome is an endocrine disorder caused by a decrease in sex hormones, either testosterone in males or estrogen and ... The syndrome is named after Dr. Franz Kallmann, the geneticist who first described it. ...
Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass ... Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism * Sections Kallmann Syndrome and Idiopathic Hypogonadotropic ... encoded search term (Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism) and Kallmann Syndrome and Idiopathic ... Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients. Am J Med Genet. 1987 Feb. 26(2):473-9. ...
Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass ... Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism * Sections Kallmann Syndrome and Idiopathic Hypogonadotropic ... encoded search term (Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism) and Kallmann Syndrome and Idiopathic ... Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism. Updated: Jun 04, 2014 * Author: Nicholas A Tritos, MD, DSc, ...
Sniffin Sticks and olfactory system imaging in patients with Kallmann syndrome. Filter those resultsâ–¼ ... Sniffin Sticks and olfactory system imaging in patients with Kallmann syndrome (332 views). Ottaviano G, Cantone E, DErrico A ... Sniffin Sticks and olfactory system imaging in patients with Kallmann syndrome. No results. ... Sniffin Sticks and olfactory system imaging in patients with Kallmann syndrome. Background: The relationship between olfactory ...
Hypogonadotropic Hypogonadism/Kallmann Syndrome Panel. Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired ... When CHH is accompanied by a defective sense of smell (anosmia or hyposmia), it is termed Kallmann syndrome (KS) and results ... The Hypogonadotropic Hypogonadism/Kallman Syndrome Panel includes sequence and deletion/duplication analysis of over 40 genes ...
Kallmann Syndrome: Jills Story. When traditional tests were inconclusive, Jill turned to the Roberts Individualized Medical ... Hyperinsulinism and Kabuki Syndrome: Amelias Story. A diagnosis of Kabuki syndrome connected all of Amelias symptoms, and ... Kabuki Syndrome: Rosalies Story. Rosalie had been in and out of the hospital a few times at three months old before coming to ... Pallister-Killian Syndrome (PKS): Violets Story. Bobby and Amber moved from Chicago to Philadelphia so that their daughter, ...
Kallmanns syndrome. Disorder that can include several characteristics such as absence of the sense of smell and decreased ... Usher syndrome. Hereditary disease that affects hearing and vision and sometimes balance.. Ulna. Long bone in the arm on the ... Balance problems are also associated with some types of Waardenburg syndrome.. References[edit]. ... Tourette syndrome. Neurological disorder characterized by recurring movements and sounds (called tics).. Tracheostomy. Surgical ...
Having a comprehensive understanding of Kallmann Syndrome is an essential step towards an effective approach to managing the ... Introducing Kallmann Syndrome. Having a comprehensive understanding of Kallmann Syndrome is an essential step towards an ... Understanding the Causes of Kallmann Syndrome. A key to unlocking the mystery of Kallmann Syndrome lies in its causes. This ... Coping Strategies: Living with Kallmann Syndrome. Living a quality life with Kallmann Syndrome is entirely possible with the ...
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.. Veronique Pingault, Virginie Bodereau, Viviane ... we suspected SOX10 was also involved in Kallmann syndrome (KS). KS is defined by the association between anosmia and ... It has been implicated in Waardenburg syndrome (WS), a rare disorder characterized by the association between pigmentation ... but SOX10 mutations cause a variable phenotype that spreads over the initial limits of the syndrome definition. On the basis of ...
Kallmann syndrome (KS) is a rare genetic disorder manifested by the combination of hypogonadotropic-hypogonadism and olfactory ... A case of Kallmann syndrome. BMJ Case Rep. 2011 Mar 25;2011. PubMed , Google Scholar ... Biochemical and MRI findings of Kallmann´s syndrome. BMJ Case Rep. 2014 Dec 9;2014. PubMed , Google Scholar ... Keywords: Kallmann syndrome, hypogonadotropic-hypogonadism, anosmia, olfactory bulb, case report. ©Eppy Buchori Aristiady et al ...
AD for Waardenburg syndrome and Gernet syndrome, AR for Jervell Lange-Nielson syndrome and Winter syndrome, X-linked for Alport ... syndrome and Rosenberg syndrome). Others are sporadic (eg, cat-eye syndrome, Turner syndrome, Klinefelter syndrome). ... For many of these syndromes, good data about actual prevalences are difficult to find. The first few syndromes listed for each ... Physical findings usually help indicate the presence of a particular syndrome; however, children with some syndromes do not ...
D) toxic shock syndrome. E) amenorrhea. 8. Mary is getting married and is not ready to become a mother- she chooses this birth ... Toxic shock syndrome is caused by toxins released into the body during a type of bacterial infection that is more likely to ... C) premenstrual syndrome. D) a blood clot resulting from her birth control pill. 7. Sue recently started her period and has ... Premenstrual Syndrome (PMS) It is common for women to experience some discomfort in the days leading up to their periods. PMS ...
Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism * Luteinizing Hormone Deficiency * Follicle-Stimulating Hormone ...
Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism * 2010depo-testosterone-aveed-342795. Drugs testosterone ...
Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism * 2010depo-testosterone-aveed-342795. Drugs testosterone ...
Kallmann syndrome. Prader-Willi syndrome (deletion of part of chromosome 15). Benign or malignant masses. Critical illness. ... Klinefelter syndrome (XXY). Variants in androgen receptor genes. Varicocele. Autoimmune damage. Drugs (eg, glucocorticoids, ...
This failure of virilization can be either complete androgen insensitivity syndrome (CAIS) or partial androgen insens... ... Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting ... Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism * Luteinizing Hormone Deficiency * Follicle-Stimulating Hormone ... encoded search term (Androgen Insensitivity Syndrome) and Androgen Insensitivity Syndrome What to Read Next on Medscape ...
Anosmia (Kallmann Syndrome). *Galactorrhea (Hyperprolactinemia). *Headache or Vision changes (intracranial pathology). * ... Small, firm Testes (Klinefelter Syndrome). *Vagina. *Thin, red instead of dull pink mucosa due to lack of Estrogen exposure ( ...
Kallmanns syndrome (kal-mănz) n. a familial condition that is the most common form of isolated gonadotrophin deficiency; it is ... Androgen Insensitivity Syndrome , Androgen insensitivity syndrome Definition Androgen insensitivity syndrome is a genetic ... Kallmanns syndrome is a birth defect in the brain that prevents release of hormones and appears as failure of male puberty. ... XYY syndrome has an incidence of one in 1,000 newborn males. However, since many males with XYY syndrome look like other males ...
Mirror movements in X-linked Kallmanns syndrome. I. A neurophysiological study. Brain, 120(Pt 7), 1199-1216. ...
MR imaging of Kallmann syndrome, a genetic disorder of migration affecting the olfactory and genital systems. AJNR Am J ... Knorr JR, Ragland RL, Brown RS, Geiber N. Kallmann syndrome: MR findings. AJNR Am J Neuroradiol 1993;14:845-851. ... Kallmann syndrome: MR evaluation of olfactory system. AJNR Am J Neuroradiol 1993;14:839-844. ... As if to appear in groups by chance, entities such as Kallmann syndrome, with its array of imaging findings, began appearing in ...
... or Kallmanns syndrome (KS), respectively. We do not yet understand the central processing pathways ... ... The neuroradiology of Kallmanns syndrome: a genotypic and phenotypic analysis. J Clin Endocrinol Metab. 1996;81(8):3010-7. ... Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nat Genet. 1993 ... Danek A, Heye B, Schroedter R. Cortically evoked motor responses in patients with Xp22.3-linked Kallmanns syndrome and in ...
A genetic cause of central hypogonadism is Kallmann syndrome. Many people with this condition also have a decreased sense of ... The most common genetic disorders that cause primary hypogonadism are Turner syndrome (in women) and Klinefelter syndrome (in ...
OMIM:308700: Kallmann syndrome. Neural cell adhesion molecule L1 (P32004) (SMART). OMIM:308840: Hydrocephalus due to aqueductal ... OMIM:307000: MASA syndrome. OMIM:303350: Spastic paraplegia. OMIM:312900: Collagen alpha-1(VII) chain (Q02388) (SMART). OMIM: ... OMIM:246200: Rabson-Mendenhall syndrome. OMIM:262190: Diabetes mellitus, insulin-resistant, with acanthosis nigricans. ...
  • To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a total lack of sense of smell (anosmia) or a reduced sense of smell. (wikipedia.org)
  • Approximately 50% of HH cases occur with anosmia and can be termed as Kallmann syndrome. (wikipedia.org)
  • In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or completely absent (anosmia). (medlineplus.gov)
  • Kallmann syndrome (KS) is a disorder characterized by hypogonadotropic hypogonadism and anosmia. (medscape.com)
  • By definition, either anosmia (lack of sense of smell) or severe hyposmia is present in patients with Kallmann syndrome, in contrast to patients with idiopathic hypogonadotropic hypogonadism, whose sense of smell is normal. (medscape.com)
  • This week, join me in conversation with Nicky Chaleunphone, who lives with congenital anosmia due to Kallman's Syndrome. (spotify.com)
  • Kallmann syndrome associates hypogonadotropic hypogonadism and anosmia and is probably due to a defect in the embryonic migration of olfactory and GnRH-synthesizing neurons. (embl-heidelberg.de)
  • Kallmann syndrome (hypogonadotropic hypogonadism and anosmia) has been considered to be allelic to CHARGE syndrome but may be the same disorder since mutations in CHD7 are responsible and many patients have other features characteristic of the syndrome described here. (arizona.edu)
  • These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). (cdc.gov)
  • Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (medscape.com)
  • Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome. (medscape.com)
  • Loss-of-function mutations of the gene encoding fibroblast growth factor receptor 1 (FGFR1) have been described in patients with autosomal dominant Kallmann syndrome. (medscape.com)
  • Mutations of the gene encoding fibroblast growth factor 8 have been found in a small minority of patients with autosomal dominant Kallmann syndrome. (medscape.com)
  • Kallmann syndrome (KS) is a condition that causes hypogonadotropic hypogonadism (HH) and an impaired sense of smell. (nih.gov)
  • Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. (wikipedia.org)
  • It is normally difficult to distinguish a case of Kallmann syndrome (KS)/hypogonadotropic hypogonadism (HH) from a straightforward constitutional delay of puberty. (wikipedia.org)
  • This feature distinguishes Kallmann syndrome from most other forms of hypogonadotropic hypogonadism, which do not affect the sense of smell. (medlineplus.gov)
  • Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. (medscape.com)
  • Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass the spectrum of isolated hypogonadotropic hypogonadism. (medscape.com)
  • Deficient hypothalamic GnRH secretion underlies the markedly abnormal gonadotropin secretion patterns in most patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism. (medscape.com)
  • Some of the genes involved in the pathogenesis of Kallmann syndrome and idiopathic hypogonadotropic hypogonadism have been identified. (medscape.com)
  • [ 3 ] In addition, mutations of the gene encoding chromodomain-helicase DNA-binding protein 7 ( CHD7 ) have been found in some patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism, some of whom have features of the CHARGE syndrome (characterized by delayed growth and development, congenital cardiac defects, dysmorphic ears, hearing loss, coloboma of the eyes). (medscape.com)
  • Loss-of-function mutations of critical components of the prokineticin pathway have been implicated in the pathogenesis of Kallmann syndrome and idiopathic hypogonadotropic hypogonadism. (medscape.com)
  • More than 140 mutations in the ANOS1 gene have been identified in people with Kallmann syndrome, a disorder characterized by the combination of hypogonadotropic hypogonadism (a condition affecting the production of hormones that direct sexual development) and an impaired sense of smell. (medlineplus.gov)
  • For example, hypogonadism can occur in girls with Turner syndrome or in individuals with hypogonadotropic (pronounced HI-po-GO-nah-doe-TROH-pik ) hypogonadism, which occurs when the hypothalamus (pronounced HI-po-THAL-uh-muss ) produces little to no gonadotropin-releasing hormone (pronounced goh-nad-uh-TROH-pin ) (GnRH). (nih.gov)
  • Boys normally have one X and one Y. This syndrome is the most common cause of primary hypogonadism. (msdmanuals.com)
  • Professor Young is a clinical and translational researcher focused on the human reproduction and particularly in congenital hypogonadotropic hypogonadism and Kallmann syndrome. (chuv.ch)
  • At Bicêtre University hospital, Professor Young has already diagnosed and treated more than 400 patients of both genders who were suffering of congenital hypogonadotropic hypogonadism or Kallmann syndrome. (chuv.ch)
  • Mr. Cassatella is a biologist who graduated in Medical Biotechnologies and is now studying bioinformatics for his PhD. He is working on the analysis of exome sequencing data to unravel new candidate genes and biological networks in GnRH deficiency diseases (Kallmann Syndrome, Idiopathic Hypogonadotropic Hypogonadism). (chuv.ch)
  • Male hypogonadism, also called testosterone deficiency syndrome (TDS), results when the testes do not produce enough androgen. (everlywell.com)
  • Klinefelter syndrome. (drugs.com)
  • In Klinefelter syndrome, two or more X chromosomes are present in addition to one Y chromosome. (drugs.com)
  • The extra X chromosome that occurs in Klinefelter syndrome causes abnormal development of the testicles, which in turn results in underproduction of testosterone. (drugs.com)
  • Klinefelter syndrome is a condition experienced by men when they are born with an extra x chromosome affecting sperm and testosterone production. (pfcla.com)
  • Klinefelter syndrome, the most common sex-chromosome disorder, is a frequent cause of both androgen deficiency and infertility. (everlywell.com)
  • Many people with Kallmann syndrome are not aware that they are unable to detect odors until the impairment is discovered through testing. (medlineplus.gov)
  • Additionally, researchers have identified mutations in other genes that may contribute to the development and features of Kallmann syndrome, but are unlikely to cause the disease on their own. (medlineplus.gov)
  • Studies suggest that mutations in genes associated with Kallmann syndrome disrupt the migration of olfactory nerve cells and GnRH-producing nerve cells in the developing brain. (medlineplus.gov)
  • It is unclear how gene mutations lead to the other signs and symptoms that can occur in Kallmann syndrome. (medlineplus.gov)
  • Together, mutations in known genes account for about 30 percent of all cases of Kallmann syndrome. (medlineplus.gov)
  • PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling-activity. (medscape.com)
  • Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. (medscape.com)
  • Genetic analysis in patients with Kallmann syndrome: coexistance of mutations in prokineticin receptor 2 and KAL1. (medscape.com)
  • Mutations of the KAL1 gene, which encodes a putative neural cell adhesion molecule (anosmin), have been described in several patients with X-linked Kallmann syndrome. (medscape.com)
  • [ 7 ] Homozygous, heterozygous or compound heterozygous mutations of the prokineticin receptor 2 have also been associated with Kallmann syndrome. (medscape.com)
  • Researchers estimate that mutations in the ANOS1 gene account for 5 to 10 percent of all cases of Kallmann syndrome. (medlineplus.gov)
  • The ANOS1 gene mutations that cause Kallmann syndrome delete part or all of the gene, change single protein building blocks (amino acids) in anosmin-1, or alter the size of the protein. (medlineplus.gov)
  • It is unclear how ANOS1 gene mutations lead to other possible signs and symptoms of Kallmann syndrome, including a failure of one kidney to develop (unilateral renal agenesis), hearing loss, and mirror movements of the hands (bimanual synkinesia). (medlineplus.gov)
  • Several patients with classical features of the CHARGE syndrome and de novo mutations in the SEMA3E gene (7q21.11) have also been described. (arizona.edu)
  • Congenital heart disease associated with sporadic Kallmann syndrome. (nih.gov)
  • Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. (wikipedia.org)
  • Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. (medlineplus.gov)
  • SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. (medscape.com)
  • The syndrome is usually first identified at puberty, when inadequate sexual development is noted, or later, when infertility is investigated. (msdmanuals.com)
  • Other genetic syndromes associated with infertility include cystic fibrosis, Kallmann's Syndrome, and Kartagener's Syndrome. (punchng.com)
  • Studies suggest that the genes associated with Kallmann syndrome are also involved in the migration of neurons that produce a hormone called gonadotropin-releasing hormone (GnRH). (medlineplus.gov)
  • Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI, Maggi R. The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. (medlineplus.gov)
  • In contrast to the priming effect of GnRH in GnRH-deficient patients with Kallmann syndrome, GnRH pulses caused minimal secretory responses of LH and no FAS responses in patient JW. (jci.org)
  • In four patients, a clinical diagnosis of Kallmann syndrome or Mowat-Wilson syndrome was made and genetically supported in 2/3 and 1/1 cases respectively. (biomedcentral.com)
  • Changes in more than 20 genes have been associated with Kallmann syndrome. (medlineplus.gov)
  • The genes associated with Kallmann syndrome play roles in the development of certain areas of the brain before birth. (medlineplus.gov)
  • NICHD encourages researchers interested in reproduction to lead the way in determining the functional role of genes involved in the development of the gonads and external genitalia, gametogenesis, infertility, endometriosis, polycystic ovarian syndrome (PCOS) and premature ovarian failure (POF), and reproductive aging. (nih.gov)
  • NICHD encourages scientists interested in reproduction to lead the way in determining the genes and their mechanisms of action involved in the development of the gonads, reproductive ducts and genitalia, the processes of gametogenesis, normal and premature reproductive aging, and reproductive disorders such as infertility, cryptorchidism, endometriosis, and polycystic ovarian syndrome (PCOS). (nih.gov)
  • Kallmann syndrome can cause female infertility due to their body's inability to produce pituitary or hypothalamic hormone. (pfcla.com)
  • This workshop will focus on recent findings in Rett and Kallmann syndromes and will explore strategies to enhance the utility of the olfactory model in understanding CNS developmental disorders. (nih.gov)
  • Background: The relationship between olfactory function, rhinencephalon and forebrain changes in Kallmann syndrome (KS) have not been adequately investigated. (cnr.it)
  • Reconsidering the olfactory and brain structures in Kallmann's syndrome: new findings in the analysis of volumetry Clinical Endocrinology, Volume n, Issue 19, December 2022 Background: Kallmann's syndrome is characterized. (unicamp.br)
  • It only affects people AFAB as it is caused by issues affecting the ovaries, such as polycystic ovarian syndrome ( PCOS ). (healthline.com)
  • Kallmann syndrome can have a wide variety of additional signs and symptoms. (medlineplus.gov)
  • Mirror movements in X-linked Kallmann's syndrome. (ox.ac.uk)
  • To investigate the mechanism of mirror movements seen in X-linked Kallmann's syndrome, we measured changes of regional cerebral blood flow with H2 15O-PET. (ox.ac.uk)
  • When Do Symptoms of Kallmann syndrome Begin? (nih.gov)
  • Inherited disorders, such as Klinefelter's syndrome - in which a male is born with two X chromosomes and one Y chromosome instead of one X and one Y - cause abnormal development of the male reproductive organs. (punchng.com)
  • 14. PROK2/PROKR2 Signaling and Kallmann Syndrome. (nih.gov)
  • Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. (nih.gov)
  • The "low T [testosterone] syndrome" has become a major marketing gimmick these days. (medscape.com)
  • In this study 67 kb of genomic DNA, corresponding to a deletion interval containing at least part of the Kallmann gene, were sequenced. (embl-heidelberg.de)
  • This candidate gene (ADMLX) is interrupted in its 3' coding region in the Kallmann patient, in which the proximal end of the KAL deletion interval was previously defined. (embl-heidelberg.de)
  • A 5' end deletion was detected in another Kallmann patient. (embl-heidelberg.de)
  • Kallmann syndrome occurs more often in males than in females, with an estimated prevalence of 1 in 30,000 males and 1 in 120,000 females. (medlineplus.gov)
  • Vanishing testes syndrome (bilateral anorchia) occurs in about 1 in every 20,000 male births. (msdmanuals.com)
  • In many cases, gonadal dysgenesis is part of a larger pathologic syndrome, such as Frasier syndrome, Deny-Drash syndrome, or campomelic dysplasia, to name a few. (nih.gov)
  • The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. (embl-heidelberg.de)