Sertoli cell-only syndrome

Title

Other Names:

Germinal cell aplasia; Del Castillo syndrome

Categories:

Male Reproductive Diseases

Summary 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 Y-chromosome. 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]

Last updated: 8/30/2017

Symptoms 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]

Last updated: 8/30/2017

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of metabolism/homeostasis	-
Abnormality of the thorax	-
Gynecomastia	-
Obesity	-

Last updated: 9/1/2017

Cause 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

Last updated: 8/30/2017

Inheritance Inheritance

In some cases, Sertoli cell-only syndrome (SCO syndrome) may be caused by a genetic change (mutation). One possible example of genetic causes of Sertoli cell-only syndrome include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of the Y-chromosome.^[1]

If SCO syndrome is caused by a genetic change in a particular individual, it is unlikely that this change was inherited. This is because most genetic causes of SCO syndrome are caused by mutations of the Y chromosome. A male’s Y chromosome is inherited from his father, and men who have SCO syndrome are typically not able to have children unless they use specific reproductive technologies. Therefore, it would be unlikely for a person to have inherited the cause of SCO syndrome from his father. In some cases, though, a genetic change causing SCO syndrome may occur on another chromosome. In these cases, it is possible for SCO syndrome to run in families.^[3] More information about reproductive technologies that may allow a man with SCO syndrome to have children is included below.

Last updated: 8/30/2017

Diagnosis 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]

Last updated: 8/30/2017

Treatment 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]

Last updated: 8/31/2017

Prognosis Prognosis

Men with Sertoli cell-only syndrome (SCO syndrome) who wish to have children have a number of options. Other than the reproductive technology options mentioned above, men with SCO syndrome can choose to pursue adoption or their partners can choose to have their eggs inseminated with a donor sperm.^[1]

Men with SCO syndrome have been reported to have about a 10.5% risk to develop testicular cancer in their lifetimes. It is important to discuss this risk with your doctor and discuss methods of looking for testicular cancer such as clinical evaluations, ultrasonography, or MRI.^[1]

Last updated: 8/31/2017

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Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Organizations 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: info@resolve.org
Website: http://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: INCIIDinfo@inciid.org
Website: http://www.inciid.org

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
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August 10, 2017

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My son has been diagnosed some time ago with this syndrome and there is now a question over cancer. How likely is this to occur? See answer
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References References

Kim ED, Mobley III JD, Stewart AF, and Moss J. Sertoli-Cell-Only Syndrome. Medscape Reference. April 17, 2015; http://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. http://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/.