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Sertoli-Cell-Only Syndrome

  • Author: Edward David Kim, MD, FACS; Chief Editor: Bradley Fields Schwartz, DO, FACS  more...
 
Updated: Apr 17, 2015
 

Background

Sertoli-cell-only (SCO) syndrome, also called germ cell aplasia, describes a condition of the testes in which only Sertoli cells line the seminiferous tubules. Sertoli cells help to make up the blood-testis barrier and are responsible assisting with sperm production. These cells respond to follicle-stimulating hormone (FSH) released by the hypothalamus, which helps to promote spermatogenesis. 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.

The physical examination findings are often unremarkable, and the diagnosis is made based on testicular biopsy findings. While investigation to identify a cause of SCO syndrome is ongoing, the etiology and mechanism of this process are currently unknown. No known effective treatment exists, but these men may be able to reproduce with assisted reproductive technology.

See the image below.

This hematoxylin and eosin section of a testis bioThis hematoxylin and eosin section of a testis biopsy (400X) demonstrates an individual tubule lined only with Sertoli cells (Sertoli-cell-only [SCO] syndrome). The Sertoli cells line the seminiferous tubule.
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Pathophysiology

Sertoli cells have in general have several functions. They provide support to the developing spermatogonia and secrete a number of substances that aid in fetal development. For example, Sertoli cells secrete anti-müllerian hormone (AMH), which helps to ensure regression of müllerian ducts as a fetus develops into a male. They also secrete inhibin and activin, which help to regulate FSH secretion by the hypothalamus.[1] Activin has a positive feedback on the hypothalamus, causing increased levels of FSH necessary for sperm production. Inhibin has a negative feedback on the hypothalamus and helps to maintain testicular homeostasis. See the image below.

Interaction between the hypothalamus and the testeInteraction between the hypothalamus and the testes. Courtesy of Wikispaces at https://malereprobio12.wikispaces.com/.

Involvement of other organ systems is rare, but is secondary to the underlying condition causing SCO syndrome. As an example, Klinefelter syndrome is characterized by SCO and Leydig cell hyperplasia.

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Epidemiology

Frequency

United States

The prevalence of SCO syndrome in the overall population is extremely low. Approximately 10% of US couples are affected by infertility. Of these couples, approximately 30% have a pure male factor as the underlying cause, and another 20% have a combined male and female factor. Although precise figures are difficult to obtain, less than 5%-10% of these infertile men have SCO syndrome.

Mortality/Morbidity

SCO syndrome presents during the evaluation of azoospermia in couples having difficulty in initiating a pregnancy. These men typically present with infertility as the only symptom.

Race

SCO syndrome has no known racial predilection; however, SCO is more common in white men. In most series, most couples who present for evaluation of male infertility are white.

Sex

SCO syndrome affects only phenotypic men.

Age

The most common age at presentation is 20-40 years. These age groups represent most men who are trying to initiate a pregnancy.

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Contributor Information and Disclosures
Author

Edward David Kim, MD, FACS Professor of Surgery, Division of Urology, University of Tennessee Graduate School of Medicine; Consulting Staff, University of Tennessee Medical Center

Edward David Kim, MD, FACS is a member of the following medical societies: American College of Surgeons, Tennessee Medical Association, Sexual Medicine Society of North America, American Society for Reproductive Medicine, American Society of Andrology, American Urological Association

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Repros.

Coauthor(s)

Joe D Mobley, III, MD, MPH Urologist, Kentucky Lake Urology Clinic

Joe D Mobley, III, MD, MPH is a member of the following medical societies: American College of Surgeons, American Medical Association, American Urological Association, Endourological Society, Tennessee Medical Association

Disclosure: Nothing to disclose.

Adam F Stewart, MD Resident Physician, Department of Surgery, Division of Urology, University of Tennessee Medical Center, University of Tennessee Graduate School of Medicine

Disclosure: Nothing to disclose.

Jared Moss, MD Resident Physician, Division of Urology, University of Tennessee Graduate School of Medicine

Jared Moss, MD is a member of the following medical societies: Alpha Omega Alpha, American Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Bradley Fields Schwartz, DO, FACS Professor of Urology, Director, Center for Laparoscopy and Endourology, Department of Surgery, Southern Illinois University School of Medicine

Bradley Fields Schwartz, DO, FACS is a member of the following medical societies: American College of Surgeons, Society of Laparoendoscopic Surgeons, Society of University Urologists, Association of Military Osteopathic Physicians and Surgeons, American Urological Association, Endourological Society

Disclosure: Nothing to disclose.

Additional Contributors

Erik T Goluboff, MD Professor, Department of Urology, College of Physicians and Surgeons, Columbia University College of Physicians and Surgeons; Director of Urology, Allen Pavilion, New York Presbyterian Hospital

Erik T Goluboff, MD is a member of the following medical societies: Alpha Omega Alpha, American Medical Association, American Urological Association, Medical Society of the State of New York, New York Academy of Medicine, Phi Beta Kappa, Society for Basic Urologic Research

Disclosure: Nothing to disclose.

References
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  2. Miyamoto T, Koh E, Tsujimura A, Miyagawa Y, Saijo Y, Namiki M, et al. Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. Andrologia. 2013 Feb 28. [Medline].

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  12. Ferras C, Fernandes S, Marques CJ, et al. AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome. Mol Hum Reprod. 2004 Oct. 10(10):755-61. [Medline].

  13. Hibi H, Ohori T, Yamada Y, Honda N, Hashiba Y, Asada Y. Testicular sperm extraction and ICSI in patients with post-chemotherapy non-obstructive azoospermia. Arch Androl. 2007 Mar-Apr. 53(2):63-5. [Medline].

  14. Nistal M, Jimenez F, Paniagua R. Sertoli cell types in the Sertoli-cell-only syndrome: relationships between Sertoli cell morphology and aetiology. Histopathology. 1990 Feb. 16(2):173-80. [Medline].

  15. Okada H, Dobashi M, Yamazaki T, et al. Conventional versus microdissection testicular sperm extraction for nonobstructive azoospermia. J Urol. 2002 Sep. 168(3):1063-7. [Medline].

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  17. Sharpe RM, McKinnell C, Kivlin C, Fisher JS. Proliferation and functional maturation of Sertoli cells, and their relevance to disorders of testis function in adulthood. Reproduction. 2003 Jun. 125(6):769-84. [Medline].

  18. Silber SJ. Sertoli cell only syndrome. Hum Reprod. 1996 Jan. 11(1):229. [Medline].

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This hematoxylin and eosin section of a testis biopsy (400X) demonstrates an individual tubule lined only with Sertoli cells (Sertoli-cell-only [SCO] syndrome). The Sertoli cells line the seminiferous tubule.
Interaction between the hypothalamus and the testes. Courtesy of Wikispaces at https://malereprobio12.wikispaces.com/.
 
 
 
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