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Disease Profile
Sertoli cell-only syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Germinal cell aplasia; Del Castillo syndrome
Categories
Male Reproductive Diseases
Summary
Sertoli
Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include
Symptoms
In some cases, SCO syndrome can be caused by another underlying disease. In these cases, it is possible for affected men to have other symptoms. For example, some men with SCO syndrome are later diagnosed with Klinefelter syndrome, another cause of male infertility. The signs and symptoms associated with underlying causes of SCO syndrome can vary.[1][2]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Abnormal thorax morphology |
Abnormality of the chest
|
0000765 |
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Enlarged male breast
|
0000771 | |
Male-limited |
0001475 | |
Obesity |
Having too much body fat
|
0001513 |
0001417 |
Cause
- Genetic factors: the infertility is caused by specific genetic changes
- Hormonal factors: the decreased sperm production is caused by hormonal problems
Toxin exposure: an exposure to a chemical caused decreased sperm cell production- History of radiation: radiation to the testicular region caused decreased sperm cell production
- History of trauma: trauma to the testicular region caused decreased sperm cell production
- History of a viral infection affecting the testicles
Diagnosis
Treatment
Unfortunately, success rate for this procedure may be limited. Current reports suggest that about 13% of men with SCO syndrome had successful procedures that resulted in having a child.[4] Success of the procedure depends on the presence of any sperm cells in the
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Resolve: The National Infertility Association
7918 Jones Branch Drive, Suite 300
McLean, VA 22102
Telephone: 703-556-7172
Fax: 703-506-3266
E-mail: [email protected]
Website: https://www.resolve.org -
The InterNational Council on Infertility Information Dissemination, Inc.
5765 F Burke Centre Pkwy
Box 330
Burke, VA 22015
Telephone: 703-379-9178
Fax: 703-379-1593
E-mail: [email protected]
Website: https://www.inciid.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Sertoli cell-only syndrome. Click on the link to view a sample search on this topic.
References
- Kim ED, Mobley III JD, Stewart AF, and Moss J. Sertoli-Cell-Only Syndrome. Medscape Reference. April 17, 2015; https://emedicine.medscape.com/article/437884-overview.
- Behre HM, Bergmann M, Simoni M and Tuttelman F. Primary Testicular Failure. Endotext. August 30, 2015; https://www.ncbi.nlm.nih.gov/books/NBK279076/.
- Stouffs K, Gheldof A, Tournaye H, Vandermaelen D, Bonduelle M, Lissens W, and Seneca S. Sertoli Cell-Only Syndrome: Behind the Genetic Scenes. BioMed Research International. January 26 2016; 6191307. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746273/.
- Vloeberghs V, Verheyen G, Haentjens P, Goossens A, Polyzos NP, and Tournaye H. How successful is TESE-ICSI in couples with non-obstructive azoospermia?. Hum Reprod. August 2015; 30(8):1790-6. https://humrep.oxfordjournals.org/content/30/8/1790.long.
- Althakafi SA, Mustafa OM, Seyam RM, Al-Hathal N, and Kattan S. Serum testosterone levels and other determinants of sperm retrieval in microdissection testicular sperm extraction. Translational Andrology and Urology. April 2017; 6(2):282-287. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5422690/.
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