eMedicine Specialties > Urology > Male Infertility

Sertoli-Cell-Only Syndrome

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
Coauthor(s): Joe D Mobley III, MD, MPH, Chief Resident Physician, Department of Surgery, Division of Urology, University of Tennessee Graduate School of Medicine/University of Tennessee Medical Center
Contributor Information and Disclosures

Updated: Aug 14, 2009

Introduction

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. 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.

This hematoxylin and eosin section of a testis bi...

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.

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This hematoxylin and eosin section of a testis bi...

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.

Pathophysiology

SCO syndrome is a condition of the testes. 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.

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.

Clinical

History

  • The most common presentation involving Sertoli-cell-only (SCO) syndrome is a young man seeking evaluation for infertility.
    • His semen analysis has demonstrated azoospermia.
    • Azoospermia may be due to spermatogenic failure or obstruction. Examples of causes of spermatogenic failure include genetic factors, hormonal factors, idiopathic factors, toxin exposure, history of radiation therapy, and history of severe trauma. These conditions may be associated with SCO syndrome. Obstruction would not be associated with SCO.
    • Less commonly, these men may have severely decreased sperm densities of less than 1 million sperm per mL. In this latter situation, the testes have foci of SCO syndrome and hypospermatogenesis.
  • SCO syndrome is diagnosed with testicular biopsy.
    • Sperm production may be patchy and heterogenous within and between the testes.
    • In its purest sense, SCO syndrome must present as azoospermia; however, a minority of men with the syndrome have foci of spermatogenesis in a testis that is predominantly SCO.

Physical

  • In men with SCO syndrome, the testes are usually small to normal in size, with a normal shape and consistency.
  • The testes may present with marked atrophy.
  • Patients with SCO syndrome exhibit normal virilization without gynecomastia.
  • The remaining physical examination findings are typically unrevealing.

Causes

  • Most causes of SCO syndrome are idiopathic. A congenital absence of germ cells due to failure of migration of gonocytes is theoretically possible.
  • 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. Five deletions arose from nonallelic homologous recombination between palindromes P5 and P1 and two between P4 and P1. In addition, 2 deletions were found at novel proximal breakpoints in the interval region between P4 and P3.1 Y-chromosome microdeletions are also occasionally identified as a cause of SCO syndrome.2 As research continues, more genetic and chromosomal abnormalities associated with SCO may be found.
  • Expression of Fas, FasL, and active caspase-3 has been detected in Sertoli cells and hyperplastic interstitial cells. This may be associated with apoptotic elimination or altered maturation of Fas-expressing germ cells through the activation of caspase-3.3
  • Exposure to chemicals and toxins may cause SCO; however, direct cause-and-effect relationships in humans have been difficult to document.
  • Klinefelter syndrome, 47 XXY, results in a characteristic biopsy appearance of SCO and Leydig cell hyperplasia.
  • Attempting to distinguish between primary (congenital) and secondary (acquired) SCO syndrome is of no prognostic significance.

More on Sertoli-Cell-Only Syndrome

Overview: Sertoli-Cell-Only Syndrome
Differential Diagnoses & Workup: Sertoli-Cell-Only Syndrome
Treatment & Medication: Sertoli-Cell-Only Syndrome
Follow-up: Sertoli-Cell-Only Syndrome
Multimedia: Sertoli-Cell-Only Syndrome
References
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References

  1. Yang Y, Ma MY, Xiao CY, Li L, Li SW, Zhang SZ. Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. Int J Androl. Dec 2008;31(6):573-8. [Medline].

  2. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, et al. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab. Mar 2007;92(3):762-70. [Medline].

  3. Kim SK, Yoon YD, Park YS, Seo JT, Kim JH. Involvement of the Fas-Fas ligand system and active caspase-3 in abnormal apoptosis in human testes with maturation arrest and Sertoli cell-only syndrome. Fertil Steril. Mar 2007;87(3):547-53. [Medline].

  4. Mancini M, Carmignani L, Gazzano G, Sagone P, Gadda F, Bosari S, et al. High prevalence of testicular cancer in azoospermic men without spermatogenesis. Hum Reprod. Apr 2007;22(4):1042-6. [Medline].

  5. Amer M, Haggar SE, Moustafa T. Testicular sperm extraction: impact of testicular histology on outcome, number of biopsies to be performed and optimal time for repetition. Hum Reprod. Dec 1999;14(12):3030-4. [Medline].

  6. Anniballo R, Ubaldi F, Cobellis L, et al. Criteria predicting the absence of spermatozoa in the Sertoli cell-only syndrome can be used to improve success rates of sperm retrieval. Hum Reprod. Nov 2000;15(11):2269-77. [Medline].

  7. Bettella A, Ferlin A, Menegazzo M, Ferigo M, Tavolini IM, Bassi PF, et al. Testicular fine needle aspiration as a diagnostic tool in non-obstructive azoospermia. Asian J Androl. Sep 2005;7(3):289-94. [Medline].

  8. Colpi GM, Piediferro G, Nerva F, Giacchetta D, Colpi EM, Piatti E. Sperm retrieval for intra-cytoplasmic sperm injection in non-obstructive azoospermia. Minerva Urol Nefrol. Jun 2005;57(2):99-107. [Medline].

  9. 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. Oct 2004;10(10):755-61. [Medline].

  10. 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. Mar-Apr 2007;53(2):63-5. [Medline].

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

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

  13. Schlegel PN, Palermo GD, Goldstein M. Testicular sperm extraction with intracytoplasmic sperm injection for nonobstructive azoospermia. Urology. Mar 1997;49(3):435-40. [Medline].

  14. 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. Jun 2003;125(6):769-84. [Medline].

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

  16. Tournaye H, Liu J, Nagy PZ. Correlation between testicular histology and outcome after intracytoplasmic sperm injection using testicular spermatozoa. Hum Reprod. Jan 1996;11(1):127-32. [Medline].

  17. Weller O, Yogev L, Yavetz H, Paz G, Kleiman S, Hauser R. Differentiating between primary and secondary Sertoli-cell-only syndrome by histologic and hormonal parameters. Fertil Steril. Jun 2005;83(6):1856-8. [Medline].

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Further Reading

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Keywords

Sertoli-cell-only syndrome, germinal cell aplasia, germ cell aplasia, SCO syndrome, infertility, azoospermatism, azoospermic, Klinefelter syndrome, azoospermia, spermatogenic failure, spermatogenic obstruction

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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, American Society for Reproductive Medicine, American Society of Andrology, American Urological Association, and Tennessee Medical Association
Disclosure: Lilly Consulting fee Consulting; Astellas Consulting fee Speaking and teaching; Indevus Consulting fee Speaking and teaching

Coauthor(s)

Joe D Mobley III, MD, MPH, Chief Resident Physician, Department of Surgery, Division of Urology, University of Tennessee Graduate School of Medicine/University of Tennessee Medical Center
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, and Tennessee Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Erik T Goluboff, MD, Professor, Department of Urology, College of Physicians and Surgeons, Columbia University; 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, and Society for Basic Urologic Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

CME Editor

J Stuart Wolf Jr, MD, FACS, David A Bloom Professor of Urology, Director of Division of Minimally Invasive Urology, Department of Urology, University of Michigan
J Stuart Wolf Jr, MD, FACS is a member of the following medical societies: American College of Surgeons, American Urological Association, Catholic Medical Association, Endourological Society, Society for Urology and Engineering, Society of Laparoendoscopic Surgeons, Society of University Urologists, and Society of Urologic Oncology
Disclosure: Terumo Corporation Consulting fee Consulting; Omeros Corporation Consulting fee Consulting

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, American Urological Association, Association of Military Osteopathic Physicians and Surgeons, Endourological Society, Society of Laparoendoscopic Surgeons, and Society of University Urologists
Disclosure: Nothing to disclose.

 
 
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