Rare Infectious Disease News

Disease Profile

Sertoli cell-only syndrome

Prevalence
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.

Unknown

Age of onset

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Germinal cell aplasia; Del Castillo syndrome

Categories

Male Reproductive Diseases

Summary

Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome.[1]

Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Ychromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.[1][2]

Symptoms

The primary sign of Sertoli cell-only syndrome (SCO syndrome) is a lack of production of sperm cells (azoospermia). Men are generally diagnosed with this condition when they are between 20 and 40 years of age and are being evaluated for infertility. Some patients with SCO syndrome may have small testicles.[1] 

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
Gynecomastia
Enlarged male breast
0000771
Male-limited autosomal dominant
0001475
Obesity
Having too much body fat
0001513
X-linked inheritance
0001417

Cause

Sertoli cell-only syndrome (SCO syndrome) can be caused by a variety of factors, but most cases occur for unknown reasons (idiopathic). Potential causes of SCO syndrome include:[1][2]

  • 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

Sertoli cell-only syndrome (SCO syndrome) is typically suspected in men who present with infertility despite having normal testosterone levels. Tests to confirm the diagnosis include a determination of azoospermia (no sperm production) and increased FSH (follicle-stimulating hormone) levels. The diagnosis is typically confirmed by a biopsy of the testicles showing no sperm production.[1]

Treatment

There is currently no available treatment for Sertoli cell-only syndrome (SCO syndrome). In some cases, men with SCO syndrome have very low levels of sperm production. In these situations, a procedure called testicular sperm extraction (TESE) can take place in order to remove sperm from the man’s testicles. The sperm can then be injected directly into a woman’s egg in a procedure called intracytoplasmic sperm injection (ICSI).[1]

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 testes, and many men with SCO syndrome may have complete absence of sperm cells.[5] The success of the procedure may be better at centers that specialize in treating men with infertility, including men with SCO syndrome.[1] In cases where TESE-ICSI is used, genetic testing is recommended beforehand for more information about whether or not the syndrome could be passed on to his children.[2][3]

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

    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

      1. 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.
      2. Behre HM, Bergmann M, Simoni M and Tuttelman F. Primary Testicular Failure. Endotext. August 30, 2015; https://www.ncbi.nlm.nih.gov/books/NBK279076/.
      3. 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/.
      4. 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.
      5. 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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