Laron Syndrome
Dwarfism
Receptors, Somatotropin
Growth Disorders
Insulin-Like Growth Factor I
Growth Hormone
Thyroid Hormone Resistance Syndrome
Human Growth Hormone
Aberrant folding of a mutant Stat5b causes growth hormone insensitivity and proteasomal dysfunction. (1/15)
A predicted alanine to proline substitution in Stat5b that results in profound short stature, growth hormone insensitivity, and immunodeficiency represents the first natural mutation of this transcription factor in a human. To understand the mechanisms responsible for these pathophysiological abnormalities, we have studied the biochemical and biophysical properties of the mutant Stat5b molecule. In a cellular reconstitution model growth hormone robustly stimulated tyrosine phosphorylation and transcriptional activity of wild-type Stat5b while Stat5bA630P was minimally modified and did not promote reporter gene expression. Steady state levels of Stat5bWT were approximately 3-fold higher than Stat5bA630P in cell extracts prepared with nonionic detergents. Although initial rates of biosynthesis of both proteins were similar, pulse-chase experiments established that the apparent half-life of newly synthesized soluble Stat5bA630P was <15% of Stat5bWT (3.5 h versus >24 h). Stat5bA630P accumulated in cells primarily in cytoplasmic inclusion bodies. Structural analysis of the isolated SH2 domain containing the A630P mutation showed that it resembled the wild-type SH2 segment but that it exhibited reduced thermodynamic stability and slower folding kinetics, displayed an increased hydrophobic surface, and was prone to aggregation in solution. Our results are compatible with a model in which Stat5bA630P is an inactive transcription factor by virtue of its aberrant folding and diminished solubility triggered by a misfolded SH2 domain. The potential for aggregation and formation of cytoplasmic inclusions raises the possibility that Stat5bA630P could produce additional defects through inhibition of proteasome function. (+info)A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling. (2/15)
Growth hormone insensitivity syndrome (GHIS) has been reported in a family homozygous for a point mutation in the GH receptor (GHR) that activates an intronic pseudoexon. The resultant GHR (GHR1-656) includes a 36 amino-acids insertion after residue 207, in the region known to be important for homodimerization of GHR. We have examined the functional consequences of such an insertion in mammalian cells transfected with the wild type (GHRwt) and mutated GHR (GHR1-656). Radio-ligand binding and flow cytometry analysis showed that GHR1-656 is poorly expressed at the cell surface compared with GHRwt. Total membrane binding and Western blot analysis showed no such difference in the level of total cellular GHR expressed for GHR1-656 vs GHRwt. Immunofluorescence showed GHR1-656 to have different cellular distribution to the wild type receptor (GHRwt), with the mutated GHR being mainly perinuclear and less vesicular than GHRwt. Western blot analysis showed GH-induced phosphorylation of Jak2 and Stat5 for both GHR1-656 and GHRwt, although reduced Stat5 activity was detected with GHR1-656, consistent with lower levels of expression of GHR1-656 than GHRwt at the cell surface. In conclusion, we report that GHIS, due to a 36 amino-acids insertion in the extracellular domain of GHR, is likely to be explained by a trafficking defect rather than by a signalling defect of GHR. (+info)Genetic disorders in the growth hormone - insulin-like growth factor-I axis. (3/15)
In the last few years, our knowledge of genetically determined causes of short stature has greatly increased by reports of challenging patients, who offered the opportunity to study genes that play a role in growth. Since the first paper that showed the etiology of Laron syndrome [Godowski PJ, et al: Proc Natl Acad Sci USA 1989;86:8083-8087], many mutations in the growth hormone (GH) receptor have been identified. Recently, new mutations or deletions have been found in several components of the GH-insulin-like growth factor-I (IGF-I) axis: a homozygous mutation of the GH1 gene, resulting in a bio-inactive GH; mutations in the STAT5b gene, which plays a major role in the GH signal transduction; a homozygous missense mutation in the IGF-I gene; heterozygous mutations in the IGF-I receptor gene and a homozygous deletion of the acid-labile subunit gene. In this mini review, we describe the clinical and biochemical features of these genetic defects. Genetic analysis has become essential in the diagnostic workup of a patient with short stature. However, regarding the time consuming nature of molecular analysis, it is important to carefully select the patient for specific genetic evaluation. To help in this selection process, we developed flowcharts, based on the recently described patients, that can be used as guidelines in the diagnostic process of patients with severe short stature of unknown origin. (+info)Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. (4/15)
STAT5 proteins are components of the common growth hormone and interleukin 2 family of cytokines' signaling pathway. Mutations in the STAT5b gene, described in 2 patients, lead to growth hormone insensitivity that resembles Laron syndrome. Clinical immunodeficiency was also present, although immunologic defects have not been well characterized thus far. Here we describe a 16-year-old girl who suffered generalized eczema and recurrent infections of the skin and respiratory tract since birth. She also suffered severe chronic lung disease and multiple episodes of herpetic keratitis. Clinical features of congenital growth hormone deficiency were observed, such as persistently low growth rate, severely delayed bone age, and postnatal growth failure resulting from growth hormone resistance. This combined phenotype of growth hormone insensitivity and immunodeficiency was attributable to a homozygous C-->T transition that resulted in a nonsense mutation at codon 152 in exon 5 of the STAT5b gene. This novel mutation determined a complete absence of protein expression. The main immunologic findings were moderate T-cell lymphopenia (1274/mm3), normal CD4/CD8 ratio, and very low numbers of natural killer (18/mm3) and gammadelta T (5/mm3) cells. T cells presented a chronically hyperactivated phenotype. In vitro T-cell proliferation and interleukin 2 signaling were impaired. CD4+ and CD25+ regulatory T cells were significantly diminished, and they probably contributed to the signs of homeostatic mechanism deregulation found in this patient. This new case, in accordance with 2 previously reported cases, definitely demonstrates the significant role of the STAT5b protein in mediating growth hormone actions. Furthermore, the main immunologic findings bring about an explanation for the clinical immunodeficiency features and reveal for the first time the relevant role of STAT5b as a key protein for T-cell functions in humans. (+info)The GH-IGF1 axis and longevity. The paradigm of IGF1 deficiency. (5/15)
Primary or secondary IGF1 deficiency has been implicated in shortening of lifespan. This paper reviews available data on the influence of IGF1 deficiency on lifespan and longevity in animals and man. It has been shown that inactivation of the IGF1 gene or of the GH receptor in both invertebrates (C-elegans, flies-Drosphila) and rodents (mice and rats), leading to IGF1 deficiency, prolong life, particularly in females. In man, evaluation of the 2 largest cohorts of patients with Laron syndrome (inactive GH receptor resulting in IGF1 deficiency) in Israel and Ecuador revealed that despite their dwarfism and marked obesity, patients are alive at the ages of 75-78 years, with some having reached even more advanced ages. It is assumed that a major contributing factor is their protection from cancer, a major cause of death in the general population. (+info)Total and high molecular weight adiponectin are elevated in patients with Laron syndrome despite marked obesity. (6/15)
(+info)Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity. (7/15)
(+info)Effects of a growth hormone-releasing hormone antagonist on telomerase activity, oxidative stress, longevity, and aging in mice. (8/15)
(+info)Laron syndrome, also known as Laron-type dwarfism or growth hormone insensitivity syndrome, is a rare genetic disorder characterized by resistance to the action of growth hormone (GH), leading to severe short stature and other abnormalities. It is caused by mutations in the gene for the growth hormone receptor (GHR).
People with Laron syndrome have normal or elevated levels of GH, but they are unable to utilize it effectively due to the defective GHR. This results in low levels of insulin-like growth factor 1 (IGF-1), a hormone that mediates many of the actions of GH.
The main features of Laron syndrome include:
* Severe short stature, with final adult height typically less than 4 feet (120 cm)
* Disproportionately small hands and feet
* Characteristic facial features, such as a prominent forehead, deep-set eyes, and a broad, flat nose
* Delayed puberty or failure to enter puberty
* Increased risk of obesity and type 2 diabetes
* Reduced bone density and increased risk of fractures
* High levels of cholesterol and lipids in the blood
* Reduced life expectancy due to an increased risk of cardiovascular disease and cancer.
Laron syndrome is usually inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. It is estimated to affect approximately 1 in 1 million people worldwide. Treatment typically involves administering IGF-1 or GH replacement therapy, although these treatments may not fully normalize growth and development.
Dwarfism is a medical condition that is characterized by short stature, typically with an adult height of 4 feet 10 inches (147 centimeters) or less. It is caused by a variety of genetic and medical conditions that affect bone growth, including skeletal dysplasias, hormonal deficiencies, and chromosomal abnormalities.
Skeletal dysplasias are the most common cause of dwarfism and are characterized by abnormalities in the development and growth of bones and cartilage. Achondroplasia is the most common form of skeletal dysplasia, accounting for about 70% of all cases of dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene and results in short limbs, a large head, and a prominent forehead.
Hormonal deficiencies, such as growth hormone deficiency or hypothyroidism, can also cause dwarfism if they are not diagnosed and treated early. Chromosomal abnormalities, such as Turner syndrome (monosomy X) or Down syndrome (trisomy 21), can also result in short stature and other features of dwarfism.
It is important to note that people with dwarfism are not "dwarves" - the term "dwarf" is a medical and sociological term used to describe individuals with this condition, while "dwarves" is a term often used in fantasy literature and media to refer to mythical beings. The use of the term "dwarf" can be considered disrespectful or offensive to some people with dwarfism, so it is important to use respectful language when referring to individuals with this condition.
Somatotropin receptors are a type of cell surface receptor that binds to and gets activated by the hormone somatotropin, also known as growth hormone (GH). These receptors are found in many tissues throughout the body, including the liver, muscle, and fat. When somatotropin binds to its receptor, it activates a series of intracellular signaling pathways that regulate various physiological processes such as growth, metabolism, and cell reproduction.
Somatotropin receptors belong to the class I cytokine receptor family and are composed of two subunits, a homodimer of extracellular glycoproteins that bind to the hormone and an intracellular tyrosine kinase domain that activates downstream signaling pathways. Mutations in the somatotropin receptor gene can lead to growth disorders such as dwarfism or gigantism, depending on whether the mutation results in a decrease or increase in receptor activity.
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.
Growth disorders are medical conditions that affect a person's growth and development, leading to shorter or taller stature than expected for their age, sex, and ethnic group. These disorders can be caused by various factors, including genetic abnormalities, hormonal imbalances, chronic illnesses, malnutrition, and psychosocial issues.
There are two main types of growth disorders:
1. Short stature: This refers to a height that is significantly below average for a person's age, sex, and ethnic group. Short stature can be caused by various factors, including genetic conditions such as Turner syndrome or dwarfism, hormonal deficiencies, chronic illnesses, malnutrition, and psychosocial issues.
2. Tall stature: This refers to a height that is significantly above average for a person's age, sex, and ethnic group. Tall stature can be caused by various factors, including genetic conditions such as Marfan syndrome or Klinefelter syndrome, hormonal imbalances, and certain medical conditions like acromegaly.
Growth disorders can have significant impacts on a person's physical, emotional, and social well-being. Therefore, it is essential to diagnose and manage these conditions early to optimize growth and development and improve overall quality of life. Treatment options for growth disorders may include medication, nutrition therapy, surgery, or a combination of these approaches.
Insulin-like growth factor I (IGF-I) is a hormone that plays a crucial role in growth and development. It is a small protein with structural and functional similarity to insulin, hence the name "insulin-like." IGF-I is primarily produced in the liver under the regulation of growth hormone (GH).
IGF-I binds to its specific receptor, the IGF-1 receptor, which is widely expressed throughout the body. This binding activates a signaling cascade that promotes cell proliferation, differentiation, and survival. In addition, IGF-I has anabolic effects on various tissues, including muscle, bone, and cartilage, contributing to their growth and maintenance.
IGF-I is essential for normal growth during childhood and adolescence, and it continues to play a role in maintaining tissue homeostasis throughout adulthood. Abnormal levels of IGF-I have been associated with various medical conditions, such as growth disorders, diabetes, and certain types of cancer.
Growth Hormone (GH), also known as somatotropin, is a peptide hormone secreted by the somatotroph cells in the anterior pituitary gland. It plays a crucial role in regulating growth, cell reproduction, and regeneration by stimulating the production of another hormone called insulin-like growth factor 1 (IGF-1) in the liver and other tissues. GH also has important metabolic functions, such as increasing glucose levels, enhancing protein synthesis, and reducing fat storage. Its secretion is regulated by two hypothalamic hormones: growth hormone-releasing hormone (GHRH), which stimulates its release, and somatostatin (SRIF), which inhibits its release. Abnormal levels of GH can lead to various medical conditions, such as dwarfism or gigantism if there are deficiencies or excesses, respectively.
Thyroid Hormone Resistance Syndrome, also known as Refractory Thyroid Disease or Generalized T3 Resistance, is a rare genetic disorder characterized by reduced sensitivity and impaired response of the body's tissues to thyroid hormones, despite having normal or elevated levels of these hormones in the blood. This condition is caused by mutations in the THRB gene, which encodes the thyroid hormone receptor beta.
In this syndrome, the target cells and tissues do not respond properly to thyroid hormones, leading to a wide range of symptoms similar to those seen in hypothyroidism (underactive thyroid), such as fatigue, weight gain, cold intolerance, constipation, dry skin, and depression. However, unlike hypothyroidism, patients with Thyroid Hormone Resistance Syndrome usually have normal or increased levels of thyroid-stimulating hormone (TSH) and free thyroxine (FT4) in their blood.
The diagnosis of Thyroid Hormone Resistance Syndrome is often challenging, as it requires the exclusion of other causes of hypothyroidism and the confirmation of normal or elevated thyroid hormone levels with impaired tissue response. Treatment typically involves careful monitoring and management of symptoms, as the use of additional thyroid hormones may not improve the condition and can even worsen symptoms in some cases.
Human Growth Hormone (HGH), also known as somatotropin, is a peptide hormone produced in the pituitary gland. It plays a crucial role in human development and growth by stimulating the production of another hormone called insulin-like growth factor 1 (IGF-1). IGF-1 promotes the growth and reproduction of cells throughout the body, particularly in bones and other tissues. HGH also helps regulate body composition, body fluids, muscle and bone growth, sugar and fat metabolism, and possibly heart function. It is essential for human development and continues to have important effects throughout life. The secretion of HGH decreases with age, which is thought to contribute to the aging process.
Laron syndrome
Zvi Laron
Dwarfism
Insulin-like growth factor 1
Hypothalamic-pituitary-somatotropic axis
Homo floresiensis
Antagonistic pleiotropy hypothesis
Dean Falk
Breast development
John Kopchick
Dwarfism in chickens
Pattern hair loss
LaRon
Disposable soma theory of aging
Growth hormone receptor
Michelin tire baby syndrome
Mecasermin
Insulin-like growth factor 1 receptor
Acne
Sephardic Bnei Anusim
List of diseases (L)
List of syndromes
List of MeSH codes (C05)
Cyproterone acetate
Jennifer Mee
List of MeSH codes (C16)
List of eponymous diseases
List of OMIM disorder codes
Growth hormone deficiency
List of causes of hypoglycemia
Laron syndrome - Wikipedia
Laron syndrome: MedlinePlus Genetics
Clinical, Biochemical and Molecular Investigations of Three Taiwanese Children with Laron Syndrome
Laron Syndrome | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessAnesthesiology | McGraw Hill Medical
Growth Hormone Insensitivity Syndrome with Laron Dwarfism | Medicalalgorithms.com
openPR.com - press releases of the category Health & Medicine - Page 6
Growth Hormone Resistance Treatment & Management: Medical Care, Surgical Care, Consultations
Growth Hormone Resistance: Background, Pathophysiology, Epidemiology
NA21902
IGF1 - Proteopedia, life in 3D
Resisting Cancer | The Scientist Magazine®
Fanconi anemia epidemiology and demographics - wikidoc
Growth Hormone Resistance: Background, Pathophysiology, Epidemiology
Intermittent fasting: Methods, benefits, risks, and Q & A
Acne and Genetics | SpringerLink
JCI - Sex differences in thrombosis in mice are mediated by sex-specific growth hormone secretion patterns
Pathology
Swine - Veterinary Sciences Tomorrow
WikiGenes - Ghr - growth hormone receptor
Trpm1 Mouse Gene Details | transient receptor potential cation channel, subfamily M, member 1 | International Mouse Phenotyping...
Pregnyl 5000 iu price - Anabolic Steroids Store
Publikationen Prof. Bernau
IGF-I increases markers of osteoblastic activity and reduces bone resorption via osteoprotegerin and RANK-ligand | Journal of...
Clinical Trials Register
Specific PHGKB|Rare Diseases PHGKB|PHGKB
CIENCIASMEDICASNEWS: Health Conditions - Genetics Home Reference: L | Published: January 24, 2017
Disease Mice | Life Science Supplies- Biohippo.com
Fact file for STAT5b deficiency
Rbl2 Mouse Gene Details | RB transcriptional corepressor like 2 | International Mouse Phenotyping Consortium
Insensitivity5
- Primary (congenital/hereditary) GH insensitivity may result from growth hormone receptor defects, as in the case of Laron syndrome, but can also be caused by defective post-receptor signal transduction (STAT5B), abnormalities of the IGF-1 gene or IGF-1 receptor. (wikipedia.org)
- The growth hormone insensitivity syndrome is an inherited form of growth hormone insensitivity featuring the dysmorphic features described by Laron. (medicalalgorithms.com)
- IGF-I deficiency can be the result of GH resistance or insensitivity due to genetic disorders of the GH receptor causing GH receptor deficiency (growth hormone receptor deficiency [GHRD], Laron syndrome) or postreceptor defects, including the principal transduction agent STAT5b, the IGF-I/IGFBP3 stabilizer acid labile subunit (ALS), the IGF-I gene, or the IGF-I receptor. (medscape.com)
- With ones peers who are taking similar substances increase your sex mB, Postel-Vinay MC, Cotterill AM, Hall K, Chatelain PG, Preece MA and Rosenfeld RG: Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome). (mdtmag.com)
- Laron syndrome (growth hormone insensitivity) is another cause. (enable-community.org)
Deficiency1
- In order to gain more insight into the mechanisms underlying the osteopenia related to low levels of IGF-I, we appealed to an animal model of "IGF-I partial deficiency" recently characterized and proposed as a more suitable animal model to mimic recognizable syndromes associated to human conditions of IGF-I deficiency [ 21 ]. (biomedcentral.com)
Dwarfism2
- Subsequent independent attempts at diagnosis (Laron Syndrome, Majewski osteodysplastic primordial dwarfism type II, cretinism) have been hampered a priori by selectively restricted access to specimens, and disparaged a posteriori using data previously unpublished, without acknowledging that all of the independent diagnoses corroborate the patent abnormal singularity of LB1. (psu.edu)
- It can be caused by mutations of specific genes, damage to the pituitary gland, Turner's syndrome, poor nutrition,or evenstress (leading to psychogenic dwarfism). (enable-community.org)
GHRD1
- A 21-year-old woman and her 23-year-old brother with GHRD/Laron syndrome demonstrating variable effects on growth of the same mutation and the correlation with low levels of IGF-I in IGFBP3. (medscape.com)
Autosomal recessive1
- Laron syndrome is an autosomal recessive disorder characterized by marked short stature, clinical hyposomatotropism, failure to generate somatomedin, or insulin-like growth factor-1 in response to growth hormone, and normal or increased levels of growth hormone. (lu.se)
Patients4
- Laron syndrome patients also do not develop acne, except temporarily during treatment with IGF-1 (if performed). (wikipedia.org)
- Cochlear hearing loss in patients with Laron syndrome. (jpadr.com)
- This included a unique look at patients with Laron syndrome and their absence of cancer and diabetes. (stemforlife.org)
- The condition is called Laron syndrome and the patients affected have thin and receding hair, eventually developing alopecia. (besthghdoctor.com)
Growth2
Defect1
- It can be assumed that the defect in hgh receptors in the laron syndrome. (nipponcha.jp)
Symptoms2
- However, the signs and symptoms of Laron syndrome vary, even among affected members of the same family. (medlineplus.gov)
- Approximately 50% of infants and children affected with Laron Syndrome present overt symptoms of hypoglycemia (especially fasting hypoglycemia) causing seizures. (mhmedical.com)
Abnormalities1
- Other features of untreated Laron syndrome include reduced muscle strength and endurance, low blood glucose levels (hypoglycemia) in infancy, small genitals and delayed puberty, hair that is thin and fragile, and dental abnormalities. (medlineplus.gov)
Gene4
- Laron syndrome is caused by mutations in the GHR gene. (medlineplus.gov)
- Researchers are working to determine how mutations in the GHR gene may protect people with Laron syndrome from developing cancer and type 2 diabetes. (medlineplus.gov)
- IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene. (jpadr.com)
- The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)
Disorder3
- Laron syndrome is a rare disorder. (medlineplus.gov)
- It is a genetic disorder that was first reported by Laron et al in 1966. (mhmedical.com)
- Laron Syndrome is such a rare disorder that only a handful of people have been diagnosed with it worldwide. (cgtnnow.com)
Ecuador's1
- A rare syndrome affects Ecuador's sou. (cgtnnow.com)
Clinical2
- Aim Present the clinical outcomes of a Laron syndrome patient untreated and on hormonal substitution treatment. (jams.pub)
- Lessons from clinical and experimental experience zvi laron, j. (nipponcha.jp)
Diseases2
- Evidence has suggested that people with Laron syndrome have a reduced risk of developing cancer and diabetes mellitus type II, with a significantly reduced incidence and delayed age of onset of these diseases compared to their unaffected relatives. (wikipedia.org)
- Over-stimulation of insulin/IGF-1 signaling by western diet may promote diseases of civilization: lessons learnt from laron syndrome. (powerhealthtalk.com)
Bone1
- Fanconi anemia is rare overall, but it is one of the most common inherited bone marrow failure syndromes. (wikidoc.org)
Cancer2
- Studies suggest that people with Laron syndrome have a significantly reduced risk of cancer and type 2 diabetes . (medlineplus.gov)
- 2] It has been proven that people with exceptionally low levels of IGF-1 (Laron syndrome) are resistant to cancer. (rawfoodsbible.com)
People2
- However, people with Laron syndrome do not seem to have an increased lifespan compared with their unaffected relatives. (medlineplus.gov)
- People with Laron syndrome have the opposite situation, an increased sensitivity to insulin, which likely helps explain their reduced risk of this common disease. (medlineplus.gov)
Condition1
- A particular form of thyroid hormone insufficiency of the central type is related to Dyke-Davidoff-Masson (DDM) syndrome, which is a severe condition associating hemicerebral hypoplasia or even atrophy, a consequence of a brain injury during the fetal period of time or the first years of childhood. (jams.pub)
Short1
- Of nearly 200 syndromes in which microcephaly is one sign, more than half include asymmetry as another sign and more than one-fourth also explicitly include short stature. (psu.edu)
Dwarfism7
- Laron Syndrome/Pituitary Dwarfism II (Growth Hormone Insensitivity) via GHR Gene Sequencing with CNV Detection. (mendelian.co)
- Laron syndrome (LS) is a rare form of dwarfism caused by defects in the growth hormone receptor causing congenital IGF-I deficiency. (scientificarchives.com)
- The skeleton No. 2 is characterized by the Laron-type dwarfism (Laron syndrome). (ipdn.ru)
- Laron syndrome is not a form of primary pituitary dwarfism ( GROWTH HORMONE DEFICIENCY DWARFISM ) but the result of mutation of the human GHR gene on chromosome 5. (nih.gov)
- Most villagers in a small small Ecuadorian village are known to have Laron Syndrome, which is genetic mutation resulting in their dwarfism. (q8geeks.org)
- Improper functioning of receptors may result in Laron syndrome, characterized by dwarfism, delayed bone growth, and insensitivity towards administered growth hormone. (healthhearty.com)
- Researchers have shown that people with a type of dwarfism called Laron's Syndrome are immune to cancer due to their low levels of insulin-like growth factor-1 (IGF-1). (emerginginvestigators.org)
Growth9
- Laron syndrome is a condition that occurs when the body is unable to utilize growth hormone. (nih.gov)
- Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome. (nih.gov)
- Laron Z. Laron Z. Growth Horm IGF Res. (nih.gov)
- Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration. (mendelian.co)
- Laron syndrome, also known as primary growth hormone insufficiency, is caused by a mutation in the growth hormone receptor gene. (nih.gov)
- Laron syndrome is an autosomal recessive disorder characterized by marked short stature, clinical hyposomatotropism, failure to generate somatomedin, or insulin-like growth factor-1 in response to growth hormone, and normal or increased levels of growth hormone. (lu.se)
- Laron syndrome is caused by dysfunction of the growth hormone receptor. (lu.se)
- The Effect of Growth Hormone on Carbohydrate Metabolism in Turner Syndrome. (e-apem.org)
- Background: Bi-allelic GHR mutations are classically responsible for Laron syndrome, a severe growth hormone (GH) resistance syndrome. (eurospe.org)
Mutations3
- Laron syndrome is caused by mutations in the GHR gene. (medlineplus.gov)
- Researchers are working to determine how mutations in the GHR gene may protect people with Laron syndrome from developing cancer and type 2 diabetes. (medlineplus.gov)
- Laron Syndrome (GHR mutations). (mendelian.co)
Polycystic ovary sy2
- Altered IGF-II expression has been observed in metabolic conditions, notably obesity, diabetes and the polycystic ovary syndrome. (medscape.com)
- Dysregulation of IGF-II has been reported in numerous diseases notably diabetes, obesity, polycystic ovary syndrome (PCOS), liver disease and cancer. (medscape.com)
Microcephaly1
- These disorders include microcephaly, Laron syndrome, hypothyroid cretinism and Down Syndrome. (futurelearn.com)
Symptoms2
- When Do Symptoms of Laron syndrome Begin? (nih.gov)
- However, the signs and symptoms of Laron syndrome vary, even among affected members of the same family. (medlineplus.gov)
Insulin1
- People with Laron syndrome have the opposite situation, an increased sensitivity to insulin, which likely helps explain their reduced risk of this common disease. (medlineplus.gov)
Hypoglycemia1
- Other features of untreated Laron syndrome include reduced muscle strength and endurance, low blood glucose levels (hypoglycemia) in infancy, small genitals and delayed puberty, hair that is thin and fragile, and dental abnormalities. (medlineplus.gov)
Neoplasms1
- Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymes HN - 2005 BX - Signal Transducing Adaptor Proteins MH - Adrenogenital Syndrome UI - D047808 MN - C19.391.775.129 MS - Abnormal SEXUAL DIFFERENTIATION caused by disorders of the GONADS or the ADRENAL GLANDS, such as CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. (nih.gov)
Prevalence1
- Based on the latest data available LARON SYNDROME have a estimated prevalence of 0.3 per 100k worldwide. (mendelian.co)
Diabetes2
- Evidence has suggested that people with Laron syndrome have a reduced risk of developing cancer and diabetes mellitus type II, with a significantly reduced incidence and delayed age of onset of these diseases compared to their unaffected relatives. (wikipedia.org)
- Studies suggest that people with Laron syndrome have a significantly reduced risk of cancer and type 2 diabetes . (medlineplus.gov)
Type1
- The third type of dwarf mouse, the Laron dwarf, is a knock-out mouse model. (nih.gov)
Individuals2
Disorders1
- The cases with the disorders that are confirmed by other tests than exome sequencing such as Down syndrome were removed in this analysis. (github.com)
Metabolic1
- Low-grade inflammation plays a role in the pathogenesis of metabolic syndrome (MetS), and measuring levels of inflammatory molecules, such as high-sensitivity C-reactive protein (hs-CRP), may indicate Mets pro. (biomedcentral.com)
Factors1
- Factors affecting Final Adult Height in Turner Syndrome. (e-apem.org)