Sertoli Cell-Only Syndrome
Sertoli Cells
Spermatogenesis
Testis
Sertoli Cell Tumor
Seminiferous Tubules
Seminiferous Epithelium
Blood-Testis Barrier
Spermatids
Spermatogonia
Spermatocytes
Leydig Cells
Follicle Stimulating Hormone
Spermatozoa
Receptors, FSH
Androgen-Binding Protein
Cells, Cultured
Testosterone
Down Syndrome
Metabolic Syndrome X
Inhibins
Expression and distribution of laminin chains in the testis for patients with azoospermia. (1/25)
The aim of our study was to investigate the relationships between the expression of laminin in the testis and spermatogenesis, and the basement membrane (BM) of testicular tubules in fertile and infertile men. Testicular tissue samples were collected from the testes of 9 patients with obstructive azoospermia (OA), 9 patients with maturation arrest (MA), and 15 patients with Sertoli cell-only syndrome (SCO). In testicular tissue, laminin was identified by staining with polyclonal antibodies. Serum follicle-stimulating hormone (FSH), lutenizing hormone (LH), and testosterone were determined by chemiluminescence assays. In seminal plasma, laminin was estimated using a double-antibody enzyme immunoassay. BM thickness was significantly correlated with testicular tubule diameter (r = -0.49, P = .004) and FSH (r = 0.52, P = .008). The beta2 chain of laminin was most expressed on the inner BM of testicular tubules. The laminin index for the beta2 chain in SCO was significantly higher than in OA (P < .0001) and MA (P = .03). The mean seminal laminin levels in SCO were significantly lower than in OA (P < .001). We demonstrated that overabundance of the beta2 chain of laminin is associated with increased BM thickness and is possibly related to spermatogenic dysfunction. (+info)Do we need to search for gr/gr deletions in infertile men in a clinical setting? (2/25)
(+info)Loss of the protein NUPR1 (p8) leads to delayed LHB expression, delayed ovarian maturation, and testicular development of a sertoli-cell-only syndrome-like phenotype in mice. (3/25)
(+info)Comparing expression of progesterone and estrogen receptors in testicular tissue from men with obstructive and nonobstructive azoospermia. (4/25)
(+info)Androgen receptor gene CAG and GGN repeat polymorphisms in Chilean men with primary severe spermatogenic failure. (5/25)
(+info)A biopsy sample reduction approach to identify significant alterations of the testicular transcriptome in the presence of Y-chromosomal microdeletions that are independent of germ cell composition. (6/25)
(+info)14-3-3 beta in the healthy and diseased male reproductive system. (7/25)
(+info)Expression of the TGF-beta1 system in human testicular pathologies. (8/25)
(+info)Sertoli Cell-Only Syndrome, also known as Del Castillo Syndrome, is a rare condition characterized by the presence of only Sertoli cells in the seminiferous tubules of the testes. These are specialized cells that normally provide support and nourishment to the developing sperm cells. However, in this syndrome, there is an absence of germ cells, which are necessary for sperm production.
The condition can be unilateral or bilateral, meaning it can affect one or both testes. It's important to note that while men with Sertoli Cell-Only Syndrome do not produce sperm, they still produce testosterone, so their secondary sexual characteristics such as facial hair, deep voice, and muscle mass develop normally.
The syndrome is often detected during infertility investigations. While it's associated with infertility, it doesn't necessarily indicate a problem with the person's overall health. However, some studies suggest that men with this condition may have an increased risk of developing testicular cancer, so regular self-examinations and medical check-ups are recommended.
Sertoli cells, also known as sustentacular cells or nurse cells, are specialized cells in the seminiferous tubules of the testis in mammals. They play a crucial role in supporting and nurturing the development of sperm cells (spermatogenesis). Sertoli cells create a microenvironment within the seminiferous tubules that facilitates the differentiation, maturation, and survival of germ cells.
These cells have several essential functions:
1. Blood-testis barrier formation: Sertoli cells form tight junctions with each other, creating a physical barrier called the blood-testis barrier, which separates the seminiferous tubules into basal and adluminal compartments. This barrier protects the developing sperm cells from the immune system and provides an isolated environment for their maturation.
2. Nutrition and support: Sertoli cells provide essential nutrients and growth factors to germ cells, ensuring their proper development and survival. They also engulf and digest residual bodies, which are byproducts of spermatid differentiation.
3. Phagocytosis: Sertoli cells have phagocytic properties, allowing them to remove debris and dead cells within the seminiferous tubules.
4. Hormone metabolism: Sertoli cells express receptors for various hormones, such as follicle-stimulating hormone (FSH), testosterone, and estradiol. They play a role in regulating hormonal signaling within the testis by metabolizing these hormones or producing inhibins, which modulate FSH secretion from the pituitary gland.
5. Regulation of spermatogenesis: Sertoli cells produce and secrete various proteins and growth factors that influence germ cell development and proliferation. They also control the release of mature sperm cells into the epididymis through a process called spermiation.
Spermatogenesis is the process by which sperm cells, or spermatozoa, are produced in male organisms. It occurs in the seminiferous tubules of the testes and involves several stages:
1. Spermatocytogenesis: This is the initial stage where diploid spermatogonial stem cells divide mitotically to produce more spermatogonia, some of which will differentiate into primary spermatocytes.
2. Meiosis: The primary spermatocytes undergo meiotic division to form haploid secondary spermatocytes, which then divide again to form haploid spermatids. This process results in the reduction of chromosome number from 46 (diploid) to 23 (haploid).
3. Spermiogenesis: The spermatids differentiate into spermatozoa, undergoing morphological changes such as the formation of a head and tail. During this stage, most of the cytoplasm is discarded, resulting in highly compacted and streamlined sperm cells.
4. Spermation: The final stage where mature sperm are released from the seminiferous tubules into the epididymis for further maturation and storage.
The entire process takes approximately 72-74 days in humans, with continuous production throughout adulthood.
The testis, also known as the testicle, is a male reproductive organ that is part of the endocrine system. It is located in the scrotum, outside of the abdominal cavity. The main function of the testis is to produce sperm and testosterone, the primary male sex hormone.
The testis is composed of many tiny tubules called seminiferous tubules, where sperm are produced. These tubules are surrounded by a network of blood vessels, nerves, and supportive tissues. The sperm then travel through a series of ducts to the epididymis, where they mature and become capable of fertilization.
Testosterone is produced in the Leydig cells, which are located in the interstitial tissue between the seminiferous tubules. Testosterone plays a crucial role in the development and maintenance of male secondary sexual characteristics, such as facial hair, deep voice, and muscle mass. It also supports sperm production and sexual function.
Abnormalities in testicular function can lead to infertility, hormonal imbalances, and other health problems. Regular self-examinations and medical check-ups are recommended for early detection and treatment of any potential issues.
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.
A Sertoli cell tumor is a rare type of sex-cord stromal tumor that develops in the testicles or, more rarely, in the ovaries. These tumors arise from the Sertoli cells, which are specialized cells within the testicle that help to nurture and protect the developing sperm cells. In the ovary, Sertoli cell tumors are thought to arise from similar cells that are part of the supporting tissue in the ovary.
Sertoli cell tumors can occur in people of any age but are most commonly found in middle-aged adults. They are usually slow-growing and may not cause any symptoms, especially if they are small. However, larger tumors or those that have spread (metastasized) may cause various symptoms depending on their location and size.
Symptoms of a Sertoli cell tumor can include:
* A painless lump or swelling in the testicle or ovary
* Abdominal pain or discomfort
* Bloating or a feeling of fullness in the abdomen
* Changes in bowel habits or urinary frequency
* Pain during sexual intercourse (in women)
* Hormonal imbalances, such as gynecomastia (breast development) in men or menstrual irregularities in women.
Diagnosis of a Sertoli cell tumor typically involves a combination of imaging tests, such as ultrasound, CT scan, or MRI, and blood tests to check for elevated levels of certain hormones that may be produced by the tumor. A biopsy may also be performed to confirm the diagnosis and determine the tumor's grade and stage.
Treatment for Sertoli cell tumors typically involves surgical removal of the tumor, along with any affected lymph nodes or other tissues. Additional treatments, such as radiation therapy or chemotherapy, may be recommended in cases where the tumor has spread or is at a higher risk of recurrence. Regular follow-up care is also important to monitor for any signs of recurrence or new tumors.
Seminiferous tubules are the long, convoluted tubes within the testicles that are responsible for producing sperm in males. They are lined with specialized epithelial cells called Sertoli cells, which provide structural support and nourishment to developing sperm cells. The seminiferous tubules also contain germ cells, which divide and differentiate into spermatozoa (sperm) through the process of spermatogenesis.
The seminiferous tubules are surrounded by a thin layer of smooth muscle called the tunica albuginea, which helps to maintain the structure and integrity of the testicle. The tubules are connected to the rete testis, a network of channels that transport sperm to the epididymis for further maturation and storage before ejaculation.
Damage or dysfunction of the seminiferous tubules can lead to male infertility, as well as other reproductive health issues.
The seminiferous epithelium is a specialized type of epithelial tissue that lines the seminiferous tubules within the testes. It is composed of various cell types, including germ cells in different stages of development (spermatogonia, primary and secondary spermatocytes, spermatids) and supportive cells called Sertoli cells.
The primary function of the seminiferous epithelium is to support sperm production (spermatogenesis). The Sertoli cells provide structural support and nourishment to the developing germ cells, helping them to differentiate into mature spermatozoa (sperm). This process involves a series of complex cellular events, including mitosis, meiosis, and spermiogenesis.
In addition to its role in sperm production, the seminiferous epithelium also plays a crucial part in maintaining the blood-testis barrier, which separates the testicular environment from the systemic circulation. This barrier helps protect developing germ cells from potential immune attacks and maintains an optimal microenvironment for spermatogenesis.
The Blood-Testis Barrier (BTB) is a unique structural and functional feature of the seminiferous epithelium in the testes, which forms a tight junction between adjacent Sertoli cells in the semi-niferous tubules. This barrier selectively restricts the passage of molecules, including potentially harmful substances and immune cells, from the systemic circulation into the adluminal compartment of the seminiferous epithelium where spermatogenesis occurs. This helps to maintain a immunologically privileged microenvironment that is essential for the survival and maturation of developing sperm cells, preventing an immune response against them. The BTB also regulates the movement of molecules required for spermatogenesis, such as nutrients, hormones, and signaling molecules, from the basal compartment to the adluminal compartment.
Spermatids are immature sperm cells that are produced during the process of spermatogenesis in the male testes. They are the product of the final stage of meiosis, where a diploid spermatocyte divides into four haploid spermatids. Each spermatid then undergoes a series of changes, including the development of a tail for motility and the condensation of its nucleus to form a head containing the genetic material. Once this process is complete, the spermatids are considered mature spermatozoa and are capable of fertilizing an egg.
Spermatogonia are a type of diploid germ cells found in the seminiferous tubules of the testis. They are the stem cells responsible for sperm production (spermatogenesis) in males. There are two types of spermatogonia: A-dark (Ad) and A-pale (Ap). The Ad spermatogonia function as reserve stem cells, while the Ap spermatogonia serve as the progenitor cells that divide to produce type B spermatogonia. Type B spermatogonia then differentiate into primary spermatocytes, which undergo meiosis to form haploid spermatozoa.
Spermatocytes are a type of cell that is involved in the process of spermatogenesis, which is the formation of sperm in the testes. Specifically, spermatocytes are the cells that undergo meiosis, a special type of cell division that results in the production of four haploid daughter cells, each containing half the number of chromosomes as the parent cell.
There are two types of spermatocytes: primary and secondary. Primary spermatocytes are diploid cells that contain 46 chromosomes (23 pairs). During meiosis I, these cells undergo a process called crossing over, in which genetic material is exchanged between homologous chromosomes. After crossing over, the primary spermatocytes divide into two secondary spermatocytes, each containing 23 chromosomes (but still with 23 pairs).
Secondary spermatocytes then undergo meiosis II, which results in the formation of four haploid spermatids. Each spermatid contains 23 single chromosomes and will eventually develop into a mature sperm cell through a process called spermiogenesis.
It's worth noting that spermatocytes are only found in males, as they are specific to the male reproductive system.
Leydig cells, also known as interstitial cells of Leydig or interstitial cell-stroma, are cells in the testes that produce and release testosterone and other androgens into the bloodstream. They are located in the seminiferous tubules of the testis, near the blood vessels, and are named after Franz Leydig, the German physiologist who discovered them in 1850.
Leydig cells contain cholesterol esters, which serve as precursors for the synthesis of testosterone. They respond to luteinizing hormone (LH) released by the anterior pituitary gland, which stimulates the production and release of testosterone. Testosterone is essential for the development and maintenance of male secondary sexual characteristics, such as facial hair, deep voice, and muscle mass. It also plays a role in sperm production and bone density.
In addition to their endocrine function, Leydig cells have been shown to have non-hormonal functions, including phagocytosis, antigen presentation, and immune regulation. However, these functions are not as well understood as their hormonal roles.
Follicle-Stimulating Hormone (FSH) is a glycoprotein hormone secreted and released by the anterior pituitary gland. In females, it promotes the growth and development of ovarian follicles in the ovary, which ultimately leads to the maturation and release of an egg (ovulation). In males, FSH stimulates the testes to produce sperm. It works in conjunction with luteinizing hormone (LH) to regulate reproductive processes. The secretion of FSH is controlled by the hypothalamic-pituitary-gonadal axis and its release is influenced by the levels of gonadotropin-releasing hormone (GnRH), estrogen, inhibin, and androgens.
Spermatozoa are the male reproductive cells, or gametes, that are produced in the testes. They are microscopic, flagellated (tail-equipped) cells that are highly specialized for fertilization. A spermatozoon consists of a head, neck, and tail. The head contains the genetic material within the nucleus, covered by a cap-like structure called the acrosome which contains enzymes to help the sperm penetrate the female's egg (ovum). The long, thin tail propels the sperm forward through fluid, such as semen, enabling its journey towards the egg for fertilization.
Follicle-stimulating hormone (FSH) receptors are specialized protein structures found on the surface of specific cells in the body. They play a crucial role in the endocrine system, particularly in the regulation of reproduction and development.
FSH receptors are primarily located on the granulosa cells that surround and support the developing eggs (oocytes) within the ovarian follicles in females. In males, these receptors can be found on the Sertoli cells in the seminiferous tubules of the testes.
When FSH, a glycoprotein hormone secreted by the anterior pituitary gland, binds to its specific receptor, it triggers a series of intracellular signaling events that ultimately lead to various physiological responses. In females, FSH receptor activation stimulates follicle growth, estrogen production, and oocyte maturation. In males, FSH receptor signaling supports spermatogenesis, the process of sperm cell development within the testes.
In summary, FSH receptors are essential components in the hormonal regulation of reproduction and development, mediating the actions of follicle-stimulating hormone on target cells in both females and males.
Androgen-binding protein (ABP) is a protein that binds specifically to androgens, which are hormones such as testosterone that play a role in male sexual development and masculine characteristics. ABP is produced in the Sertoli cells of the testes and helps to regulate the levels of androgens within the testes by storing them and slowly releasing them over time. This is important for maintaining normal sperm production and male reproductive function.
ABP is also found in other tissues, including the prostate gland, where it may play a role in regulating the growth and development of this tissue. Abnormal levels of ABP have been associated with certain medical conditions, such as prostate cancer and infertility.
"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.
Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.
It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.
Testosterone is a steroid hormone that belongs to androsten class of hormones. It is primarily secreted by the Leydig cells in the testes of males and, to a lesser extent, by the ovaries and adrenal glands in females. Testosterone is the main male sex hormone and anabolic steroid. It plays a key role in the development of masculine characteristics, such as body hair and muscle mass, and contributes to bone density, fat distribution, red cell production, and sex drive. In females, testosterone contributes to sexual desire and bone health. Testosterone is synthesized from cholesterol and its production is regulated by luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.
Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.
People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.
The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.
Testicular hormones, also known as androgens, are a type of sex hormone primarily produced in the testes of males. The most important and well-known androgen is testosterone, which plays a crucial role in the development of male reproductive system and secondary sexual characteristics. Testosterone is responsible for the growth and maintenance of male sex organs, such as the testes and prostate, and it also promotes the development of secondary sexual characteristics like facial hair, deep voice, and muscle mass.
Testicular hormones are produced and regulated by a feedback system involving the hypothalamus and pituitary gland in the brain. The hypothalamus produces gonadotropin-releasing hormone (GnRH), which stimulates the pituitary gland to release follicle-stimulating hormone (FSH) and luteinizing hormone (LH). LH stimulates the testes to produce testosterone, while FSH works together with testosterone to promote sperm production.
In addition to their role in male sexual development and function, testicular hormones also have important effects on other bodily functions, such as bone density, muscle mass, red blood cell production, mood, and cognitive function.
Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:
1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater
Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.
Inhibins are a group of protein hormones that play a crucial role in regulating the function of the reproductive system, specifically by inhibiting the production of follicle-stimulating hormone (FSH) in the pituitary gland. They are produced and secreted primarily by the granulosa cells in the ovaries of females and Sertoli cells in the testes of males.
Inhibins consist of two subunits, an alpha subunit, and a beta subunit, which can be further divided into two types: inhibin A and inhibin B. Inhibin A is primarily produced by the granulosa cells of developing follicles in the ovary, while inhibin B is mainly produced by the Sertoli cells in the testes.
By regulating FSH production, inhibins help control the development and maturation of ovarian follicles in females and spermatogenesis in males. Abnormal levels of inhibins have been associated with various reproductive disorders, including polycystic ovary syndrome (PCOS) and certain types of cancer.
Sertoli cell-only syndrome
McCune-Albright syndrome
Sertoli-Leydig cell tumour
Carney complex
Sertoli cell tumour
Azoospermia factor
Vasa gene
USP9Y
Sertoli cell
Mild androgen insensitivity syndrome
Complete androgen insensitivity syndrome
Partial androgen insensitivity syndrome
Androgen insensitivity syndrome
SEPT12
Oral pigmentation
Gynecomastia
Anti-Müllerian hormone
DDX3Y
Azoospermia
Ovarian cancer
TEX55
Macroorchidism
Amenorrhea
List of MeSH codes (C13)
List of syndromes
Aplasia
USP26
Spermatogenesis
Leydig cell tumour
Persistent Müllerian duct syndrome
Sertoli cell-only syndrome - Wikipedia
Sertoli-Cell-Only Syndrome: Practice Essentials, Pathophysiology, Etiology
Complete Androgen Insensitivity Syndrome (CAIS) and Karyotype 47, XXY, with Sertoli-Leydig Cell Tumor: Description of a Rare...
Sertoli-Cell-Only Syndrome: Background, Pathophysiology, Epidemiology
Single-nucleotide polymorphisms in ETV5: a risk factor for Sertoli cell-only syndrome in Japanese men?
DICER1 syndrome: MedlinePlus Genetics
Rossberg I[au] - Search Results - PubMed
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Leydig15
- As an example, Klinefelter syndrome is characterized by SCO and Leydig cell hyperplasia. (medscape.com)
- Objective: To report the rare case of a patient with Complete Androgen Insensitivity Syndrome (CAIS) with Klinefelter Syndrome (KS) (47, XXY) presenting a Sertoli/Leydig cell tumor discovered during the gonadectomy. (remedypublications.com)
- DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell tumors, which typically develop in affected women in their teens or twenties. (medlineplus.gov)
- Sertoli-Leydig cell tumors usually do not metastasize. (medlineplus.gov)
- Common phenotypes of DICER1 syndrome include PPB, MNG, cystic nephroma and Sertoli-Leydig cell tumour. (bmj.com)
- Sertoli cell and Leydig cell tumours are rare. (gpnotebook.com)
- Pure Leydig cell tumours are very rare, and may be referred to as lipid cell tumours. (gpnotebook.com)
- Leydig cell tumors comprise 1-3% of testicular tumors. (pathologyoutlines.com)
- The patient aged 14 at time of partial thyroidectomy later manifested a Sertoli-Leydig Cell Tumor at age 15. (hypothes.is)
- The receptor is also expressed at high levels in the human testis, where it is found in both Sertoli and Leydig cells. (nih.gov)
- Sertoli-Leydig cell tumors are rare ovarian neoplasms. (manipal.edu)
- Leydig cell aplasia occurs when congenital absence of Leydig cells causes partially developed or ambiguous external genitals. (msdmanuals.com)
- Epidermal growth factor (EGF) modulates Leydig cell proliferation, steroidogenesis, spermiogenesis, and Sertoli cell activity. (metu.edu.tr)
- The ipsilateral ischemic testis of the EGF21 group showed Leydig cell hyperplasia, and the contralateral non-ischemic testes in this group were similar to the control group. (metu.edu.tr)
- In prepubertal boys with KS a diminished number or complete absence of spermatogonia has been described despite a normal appearance of Sertoli and Leydig cells (Muller et al. (springer.com)
Azoospermia10
- Sertoli cell-only syndrome (SCOS), also known as germ cell aplasia, is defined by azoospermia where the testicular seminiferous tubules are lined solely with sertoli cells. (wikipedia.org)
- Most cases of SCO syndrome are idiopathic, however, causes may include deletions of genetic material on Y-chromosome regions, particularly the azoospermia factor area. (wikipedia.org)
- A substantial subset of men with this uncommon syndrome have microdeletions in the Yq11 region of the Y chromosome, an area known as the AZF (azoospermia factor) region. (wikipedia.org)
- Sertoli cell-only disease is frequently characterized by azoospermia which is the complete absence of sperm in semen. (wikipedia.org)
- Testicular biopsy is the only way to confirm non-obstructive azoospermia and Sertoli cell-only syndrome. (wikipedia.org)
- Yao and colleagues found 174 microRNAs (miRNAs) were differentially expressed in human Sertoli cells in men with SCO syndrome compared with men with obstructive azoospermia, suggesting that these miRNAs may be associated with the pathogenesis of SCO syndrome. (medscape.com)
- [ 6 ] Massive deletions in the azoospermia factor (AZF) region of the Y chromosome, specifically in AZFb/b+c, have been found in men with SCO syndrome. (medscape.com)
- SCO syndrome presents during the evaluation of azoospermia in couples having difficulty in initiating a pregnancy. (medscape.com)
- Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. (medscape.com)
- Genetic mechanisms are implicated in aspects of male infertility and male mice lacking the gene Etv5 exhibited azoospermia with loss of germ cells: a phenotype identical to human Sertoli cell-only syndrome (SCOS). (imrpress.com)
Tumor15
- Without appropriate regulation by miRNA, genes are likely expressed abnormally, which could cause cells to grow and divide uncontrollably and lead to tumor formation. (medlineplus.gov)
- This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. (cancerindex.org)
- Given history, a Sertoli cell tumor is the primary differential diagnosis, with other testicular neoplasms considered less likely. (acvr.org)
- Histopathology of the testicle showed both a Sertoli cell tumor and seminoma with invasion of neoplastic Sertoli cells into blood vessels and lymphatics. (acvr.org)
- Prostatic histopathology revealed squamous metaplasia secondary to feminization syndrome from the Sertoli cell tumor. (acvr.org)
- These types of cancer begin when healthy cells in these areas change and grow out of control, forming a mass called a tumor. (cancer.net)
- The tumor cells may display endocrine atypia. (pathologyoutlines.com)
- Tumor cells are negative for S100. (pathologyoutlines.com)
- The main cancer we worry about is something called a Sertoli cell tumor (these make up about 60% of canine testicular cancers). (petful.com)
- Ovarian tumors include luteoma of pregnancy, arrhenoblastoma, hilar-cell tumor, masculinizing ovarian stromal cell tumor, and Krukenberg tumor. (health.am)
- it is thought to function as a haploinsufficient tumor suppressor gene with the loss of one allele leading to tumor progression but loss of both alleles having an inhibitory effect for tumor development implying that one intact allele is needed for cell survival8. (hypothes.is)
- Frasier syndrome (FS) is characterized by gonadal dysgenesis with a high risk for development of GB as well as chronic renal failure in early adulthood, and is known to arise from a splice site mutation in intron 9 of the Wilms' tumor 1 gene (WT1). (eur.nl)
- Ovulatory surges of human CG prevent hormone-induced granulosa cell tumor formation leading to the identification of tumor-associated changes in the transcriptome. (cancercentrum.se)
- Pectasides D, Pectasides E, Psyrri A. Granulosa cell tumor of the ovary. (cancercentrum.se)
- Ovarian granulosa cell tumor and increased risk of breast cancer. (cancercentrum.se)
Large cell calcify1
- Large-cell calcifying Sertoli cell tumors (LCCSCT) occur in 75% of male CNC patients, leading to gynecomastia in prepubertal boys, and various ovarian cancers have been found in women. (logicalimages.com)
Neoplastic Sertoli cells1
- Using immunohistochemistry, AMH has been shown to be a useful marker of immature and neoplastic Sertoli cells in dogs. (vin.com)
Testes7
- When sperm density falls, the testes exhibit SCO syndrome and hypospermatogenesis. (wikipedia.org)
- Sertoli-cell-only (SCO) syndrome, also called germ cell aplasia or Del Castillo syndrome, describes a condition of the testes in which only Sertoli cells line the seminiferous tubules. (medscape.com)
- Taniguchi and colleagues reported that while hOvol1 and hOvol2 were detected by reverse transcription-polymerase chain reaction (RT-PCR) in the testes of patients capable of spermatogenesis, they were not detected in those with Sertoli cell-only syndrome. (medscape.com)
- The syndrome is usually identified at puberty, when inadequate sexual development is noted (typically very small, firm testes), or later, when infertility is investigated. (msdmanuals.com)
- In bilateral anorchia (vanishing testes syndrome), the testes were presumably present but were resorbed before or after birth. (msdmanuals.com)
- In the G21 group, the bilateral testes showed Sertoli cell only syndrome in some sections, and most of the cells were undergoing apoptosis. (metu.edu.tr)
- However, immunohistochemical studies demonstrated that, in early adolescence, the majority of boys with KS have germ cells in their testes despite a marked reduction in adult dark spermatogonia (Muller et al. (springer.com)
Maturation arrest2
- Hadjkacem-Loukil L, Hadj-Kacem H, Hadj Salem I, Bahloul A, Fakhfakh F, Ayadi H. Genotyping of Tunisian azoospermic men with Sertoli cell-only and maturation arrest. (medscape.com)
- Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas (Arafat et al. (nih.gov)
Testicular7
- A testicular biopsy confirms the diagnosis of SCO syndrome. (wikipedia.org)
- Subsequently the onset of puberty is associated with accelerated and progressive depletion of testicular germ cells, which may precede elevation in serum gonadotropin levels (Mehta and Paduch, Fertil Steril 98:274-283, 2012). (springer.com)
- Aksglaede I, Juul A. Testicular function and fertility in men with Klinefelter syndrome: a review. (springer.com)
- Infertility in patients with Klinefelter syndrome: optimal timing for sperm and testicular tissue cryopreservation. (springer.com)
- Palermo GD, Schlegel PN, Sills ES, Veeck LL, Zaninovic N, Menendez S, Rosenwaks Z. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. (springer.com)
- Plotton I, Giscard d'Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F, Lejeune H. Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. (springer.com)
- Mutations in SRY as well as WT1 can lead to diminished expression and function of SRY, resulting in sub-optimal SOX9 expression, Sertoli cell formation and subsequent lack of proper testicular development. (eur.nl)
Spermatogenesis6
- These cells respond to follicle-stimulating hormone, which is secreted by the hypothalamus and aids in spermatogenesis. (wikipedia.org)
- These cells respond to follicle-stimulating hormone (FSH) released by the hypothalamus, which helps to promote spermatogenesis. (medscape.com)
- A study investigating the PRPS2 protein found that PRPS2 expression was significantly greater in patients with SCO syndrome than in those with normal spermatogenesis. (medscape.com)
- NANOS2 has also been identified as a key stem cell regulator in Spermatogonial Stem Cells (SSC) of mature individuals by maintaining the stem cell fate during spermatogenesis in mice 10 . (nature.com)
- LEARNING POINTS: Absence of minipuberty in males with CHH results in low Sertoli cell numbers and delayed response to induction of spermatogenesis in adulthood. (edu.au)
- We also propose that identification of the absence of minipuberty in infants with clinical signs suggesting congenital hypogonadotrophic hypogonadism (CHH) is an opportunity for intervention with pulsatile GnRH yielding benefits for fertility decades later.LEARNING POINTS: Absence of minipuberty in males with CHH results in low Sertoli cell numbers and delayed response to induction of spermatogenesis in adulthood. (edu.au)
Tumors of the ovary5
- Mutation of FOXL2 in granulosa-cell tumors of the ovary. (cancercentrum.se)
- The prevalence and prognostic impact of lymph node metastasis in malignant germ cell tumors of the ovary. (cancercentrum.se)
- Retroperitoneal nodal metastasis in primary and recurrent granulosa cell tumors of the ovary. (cancercentrum.se)
- Ayhan A, Salman MC, Velipasaoglu M, Sakinci M, Yuce K. Prognostic factors in adult granulosa cell tumors of the ovary: a retrospective analysis of 80 cases. (cancercentrum.se)
- Surgical staging and adjuvant chemotherapy in the management of patients with adult granulosa cell tumors of the ovary. (cancercentrum.se)
Testis7
- Sertoli cells contribute to the formation of the blood-testis barrier and aid in sperm generation. (wikipedia.org)
- [ 1 ] Sertoli cells help to make up the blood-testis barrier and are responsible assisting with sperm production. (medscape.com)
- This hematoxylin and eosin section of a testis biopsy (400X) demonstrates an individual tubule lined only with Sertoli cells (Sertoli-cell-only [SCO] syndrome). (medscape.com)
- Proliferation and functional maturation of Sertoli cells, and their relevance to disorders of testis function in adulthood. (medscape.com)
- Nanos1A was strongly expressed in brain and also localized in all germ cell types in the polarized testis. (nature.com)
- The virus infects Sertoli cells in the testis and causes inflammation leading to structural damage and breakdown of the blood-testis barrier (BTB) in mice. (nih.gov)
- Pulsatile GnRH therapy in patients with CHH, given prior to age of attainment of Sertoli cell maturation, can replicate the normal physiology of minipuberty, thereby priming the testis for future fertility. (edu.au)
Klinefelter4
- Other signs and symptoms are uncommon, yet in some cases, an underlying cause of SCO syndrome, such as Klinefelter syndrome, may produce other symptoms. (wikipedia.org)
- In Klinefelter syndrome (KS) the topic of fertility vs. infertility is of major concern since that, until recent years, infertility was considered an untreatable condition in KS. (springer.com)
- Wikstrom AM, Raivio T, Hadziselimovic F, Wikstrom S, Tuuri T, Dunkel L. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion. (springer.com)
- Klinefelter syndrome: an argument for early aggressive hormonal and fertility management. (springer.com)
Ovaries1
- Because the surfaces of the ovaries, the lining of the fallopian tubes, and the covering cells of the peritoneum are made up of the same types of cells, most of these diseases look alike under a microscope. (cancer.net)
Etiology1
- While investigation to identify a cause of SCO syndrome is ongoing, the etiology and mechanism of this process are currently unknown. (medscape.com)
Seminiferous2
- because of the presence of Sertoli cells alone lining the seminiferous tubules. (wikipedia.org)
- The Sertoli cells line the seminiferous tubule. (medscape.com)
Ovarian5
- The term "ovarian cancer" is often used to describe cancers that begin in the cells in the ovary, fallopian tube, or peritoneum. (cancer.net)
- Granulosa cell tumours are the most common, and account for 5% of all solid ovarian tumours. (gpnotebook.com)
- Incidence and severity of ovarian hyperstimulation syndrome (OHSS) in high responders after gonadotropin-releasing hormone (GnRH) agonist trigger in "freeze-all" approach. (ivi-rmainnovation.com)
- CpG methylation of the FHIT, FANCF, cyclin-D2, BRCA2 and RUNX3 genes in Granulosa cell tumors (GCTs) of ovarian origin. (cancercentrum.se)
- Conservative surgery to preserve ovarian function in patients with malignant ovarian germ cell tumors. (cancercentrum.se)
Proliferation1
- Through this role in regulating the activity (expression) of genes, the Dicer protein is involved in many processes, including cell growth and division (proliferation) and the maturation of cells to take on specialized functions (differentiation). (medlineplus.gov)
Predisposition syndrome1
- 2 DICER1 syndrome is a paediatric multitumour predisposition syndrome caused typically by germline loss-of-function DICER1 variants, but some predisposing mosaic DICER1 mutations have also been described. (bmj.com)
Pleuropulmonary blastoma2
- People with DICER1 syndrome who develop tumors most commonly develop pleuropulmonary blastoma, which is characterized by tumors that grow in lung tissue or in the outer covering of the lungs (the pleura). (medlineplus.gov)
- Of note, both patients carry DICER1 mutations, frequently found in pleuropulmonary blastoma syndrome. (manipal.edu)
Mutation2
- Mosaicism is a phenomenon where two genetically distinct populations of cells arise following postzygotic acquisition in one cell of a de novo mutation. (bmj.com)
- For a testicle the increased warmth increases the risk of cell mutation and cancer . (petful.com)
Tumours6
- Thecomas are one third as common as granulosa cell tumours. (gpnotebook.com)
- Often, tumours have both granulosa and thecal elements - granulosa-theca cell tumours. (gpnotebook.com)
- Others, most commonly Sertoli cell tumours (SCT), may present with signs of feminization. (vin.com)
- In humans, AMH has been shown to be a specific marker of Sertoli cell origin in gonadal tumours. (vin.com)
- AMH is a promising biomarker for the diagnosis of Sertoli cell tumours in dogs. (vin.com)
- A current perspective on the pathological assessment of FOXL2 in adult-type granulosa cell tumours of the ovary. (cancercentrum.se)
Gonadal2
- Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in situ (CIS) or gonadoblastoma (GB) as precursor lesion. (eur.nl)
- Pauniaho SL, Salonen J, Helminen M, Vettenranta K, Heikinheimo M, Heikinheimo O. The incidences of malignant gonadal and extragonadal germ cell tumors in males and females: a population-based study covering over 40 years in Finland. (cancercentrum.se)
Germinal cells2
- In addition, Nanos1B protein was predominantly located in the nuclei of male germinal cells. (nature.com)
- Taken together, these data identify Nanos as primordial genes with highly conserved functions for both, the migration of the germinal cells and their maintenance in adults. (nature.com)
Autosomal dominant1
- Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. (cancerindex.org)
Cause of SCO syndrome1
- Y-chromosome microdeletions are also occasionally identified as a cause of SCO syndrome. (medscape.com)
Loss of germ cells1
- In mice, the suppression of Nanos3 expression in PGC resulted in the complete loss of germ cells in both sexes 9 . (nature.com)
Mutations4
- DICER1 syndrome is caused by mutations in the DICER1 gene. (medlineplus.gov)
- Most of the gene mutations involved in DICER1 syndrome lead to an abnormally short Dicer protein that is unable to aid in the production of miRNA. (medlineplus.gov)
- Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. (tulane.edu)
- Swyer syndrome), SRY mutations, residing in the HMG (High Mobility Group) domain, are found to affect nuclear transport or binding to and bending of DNA. (eur.nl)
Gene4
- Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. (medscape.com)
- A role of this gene in Germinal Stem Cells maintenance may be evolutionarily conserved as Nanos2 is specifically expressed both in oogonia and in spermatogonia of adult medaka 11 and in a subpopulation of undifferentiated A spermatogonia in juvenile and spermiating male trout 12 . (nature.com)
- 染色體異常 ,如克林費氏症(Klinfelter syndrome)、透納氏症(Turner syndrome)、Y染色體缺失(BYP2/AZFc (e-stork.com.tw)
- However, international scientific consensus holds that Zika PCR) assay based on a published method targeting the virus infection is a cause of 2 severe clinical sequelae rec- nonstructural protein 1 (NS1) gene ( 21 ) and a commercial ognized recently: Guillain-Barré syndrome and congenital serologic assay (EUROIMMUN AG, Lübeck, Germany). (cdc.gov)
Azoospermic1
- Typically, men with SCO syndrome present between age 20-40 years for evaluation of infertility and are found to be azoospermic, a term describing the absence of sperm in the ejaculate. (medscape.com)
Ovary2
- In the ovary, both paralogs were detected in germinal and somatic cells. (nature.com)
- Prognostic impact of lymphadenectomy in clinically early stage malignant germ cell tumour of the ovary. (cancercentrum.se)
Dicer1-syndrome4
- in people with DICER1 syndrome, the cysts develop early in childhood. (medlineplus.gov)
- People with DICER1 syndrome are also at risk of multinodular goiter, which is enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors (both referred to as nodules). (medlineplus.gov)
- Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma). (medlineplus.gov)
- DICER1 syndrome is a rare genetic disorder that predisposes individuals to multiple cancer types. (hypothes.is)
Fertility2
- Recent evidence indicates a Y-chromosomal CDY1 deletion in Sertoli cell-only syndrome, and reverse transcription-polymerase chain reaction testing of the DAZ and CDY1 genes could potentially predict this condition as well as assess the possibility of finding any mature spermatozoa for fertility treatment. (wikipedia.org)
- Therefore, it becomes essential to investigate possible effects of emerging viruses on reproductive tissues and cells to better understand potential impacts on fertility that may be sex specific. (nih.gov)
Semen1
- Sertoli cell-only syndrome is usually initially assessed by conducting two separate semen analyses. (wikipedia.org)
PMID1
- PMID:21684805 oncoprotein in HPV 16-positive cells. (who.int)
Sperm1
- Men often learn they have Sertoli cell-only syndrome between the ages of 20 and 40 when they are checked for infertility and found to produce no sperm. (wikipedia.org)
Abstract1
- abstract = "SUMMARY: A 33-year-old man with Kallmann syndrome had received pulsatile GnRH as an infant for the treatment of cryptorchidism. (edu.au)
Malignant1
- Embryonic germ cells residing in this unfavourable micro-environment have an increased risk for malignant transformation. (eur.nl)
Symptom1
- Infertility is the most prevalent symptom of Sertoli-cell-only syndrome. (wikipedia.org)
Typically1
- The majority of patients with Sertoli cell-only syndrome (up to 90%) have increased FSH levels, which are typically two to three times normal. (wikipedia.org)
Feminization2
- Feminization is a common paraneoplastic syndrome seen with Sertoli cell tumors. (acvr.org)
- This means affected dogs often show feminization syndrome . (petful.com)
Genetic2
- A genetic basis for SCO syndrome is under intense investigation. (medscape.com)
- Experiments conducted by Frederick Griffith in 1928 at the Ministry of Health in London, England confirmed the existence of a factor in cells capable of transferring genetic information. (asu.edu)
Diagnosis1
- It starts with approaches to diagnosis, syndromes, grading and molecular patterns. (pathologyoutlines.com)
Squamous1
- Cancer Lett, 300:215-224.doi:10.1016/j. squamous cell carcinoma in north-eastern Iran. (who.int)
Apoptosis1
- In SCO syndrome mouse model, PRPS2 overexpression significantly inhibited cell apoptosis and promoted cell cycle transition in TM4 Sertoli cells. (medscape.com)
Occur2
- They occur in Meig's syndrome. (gpnotebook.com)
- Germ cell malignancies can occur. (mhmedical.com)
Granulosa4
- HN - 2008 BX - Von Ebner's Glands MH - Cumulus Cells UI - D054885 MN - A05.360.319.114.630.535.200.500 MN - A06.407.312.497.535.300.500 MN - A11.436.300.500 MS - The granulosa cells of the cumulus oophorus which surround the OVUM in the GRAAFIAN FOLLICLE. (bvsalud.org)
- HN - 2008 BX - Granulosa Cells, Cumulus MH - Coronary Sinus UI - D054326 MN - A07.231.908.194.500 MS - A short vein that collects about two thirds of the venous blood from the MYOCARDIUM and drains into the RIGHT ATRIUM. (bvsalud.org)
- Mayr D, Hirschmann A, Marlow S, Horvath C, Diebold J. Analysis of selected oncogenes (AKT1, FOS, BCL2L2, TGFbeta) on chromosome 14 in granulosa cell tumors (GCTs): a comprehensive study on 30 GCTs combining comparative genomic hybridization (CGH) and fluorescence-in situ-hybridization (FISH). (cancercentrum.se)
- Bjorkholm E, Silfversward C. Granulosa- and theca-cell tumors. (cancercentrum.se)
Congenital absence1
- A congenital absence of germ cells due to failure of migration of gonocytes is theoretically possible. (medscape.com)