Sertoli cell-only syndrome

Sertoli cell-only syndrome
Other namesDel Castillo syndrome
SpecialtyEndocrinology, andrology 
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Sertoli cell-only syndrome (a.k.a. Del Castillo syndrome and germ cell aplasia[1] ) is a disorder characterized by male sterility without sexual abnormality. It describes a condition of the testes in which only Sertoli cells line is present in seminiferous tubules.[2]

Presentation

Sertoli cell-only syndrome patients normally have normal secondary male features and have normal or small-sized testes.

Pathophysiology

Sertoli cell-only syndrome is likely multifactorial, and is characterized by severely reduced or absent spermatogenesis despite the presence of both Sertoli and Leydig cells. A substantial subset of men with this uncommon syndrome have microdeletions in the Yq11 region of the Y chromosome, an area known as the AZF (azoospermia factor) region. In particular, sertoli cell only syndrome (SCO) correlates with AZFa microdeletions. It is possible to recognize two types of SCO: SCO type 1 shows total absence of spermatogonia because of an altered migration of primordial germ cells from yolk sac to gonadal ridges; SCO type 2 is instead due to a subsequent damage and shows the presence of rare spermatogonia in a minority of tubules.[3]

Generally, testosterone and LH levels are normal, but due to lack of inhibin, FSH levels are increased.

Diagnosis

Testicular biopsy would confirm the absence of spermatozoa. Seminal plasma protein TEX101 was proposed for differentiation of Sertoli cell-only syndrome from maturation arrest and hypospermatogenesis.[4][5] A clinical trial at Mount Sinai Hospital, Canada started testing this hypothesis in 2016.[6]

Treatment

Sertoli cell-only syndrome is like other non-obstructive azoospermia (NOA). Cases are managed by sperm retrieval through testicular sperm extraction (TESE), micro-surgical testicular sperm extraction (mTESE), or testicular biopsy.[7] On retrieval of viable sperm this could be used in Intracytoplasmic sperm injection ICSI

In 1979, Levin described germinal cell aplasia with focal spermatogenesis where a variable percentage of seminiferous tubules contain germ cells.[8] It is important to discriminate between the two types in view of ICSI.

A retrospective analysis performed in 2015 detailed the outcomes of N=148 men with non-obstructive azoospermia and diagnosed Sertoli cell-only syndrome:

  • Men with SCOS: 148
  • Testicular sperm was successfully retrieved: 35/148
  • Successful ICSI: 20/148
  • Clinical pregnancy: 4/148

This study considers the effect of FSH levels on clinical success, and it excludes abnormal karyotypes. All patients underwent MD-TESE in Iran. Ethnicity and genetic lineage may affect treatment of azoospermia.[9]

References

  1. ↑ Sertoli cell-only syndrome at eMedicine
  2. ↑ "Sertoli-Cell-Only Syndrome". 1 June 2016. Retrieved 24 August 2016..
  3. ↑ "Sertoli Cell-Only Syndrome". www.ebi.ac.uk. Retrieved 2019-12-08.
  4. ↑ Drabovich, A. P.; Dimitromanolakis, A.; Saraon, P.; Soosaipillai, A.; Batruch, I.; Mullen, B.; Jarvi, K.; Diamandis, E.P. (2013). "Differential Diagnosis of Azoospermia with Proteomic Biomarkers ECM1 and TEX101 Quantified in Seminal Plasma". Science Translational Medicine. 5 (212): 212ra160. doi:10.1126/scitranslmed.3006260. PMID 24259048. S2CID 13541504.
  5. ↑ Korbakis, D.; Schiza, C.; Brinc, D.; Soosaipillai, A.; Karakosta, T.D.; Légaré, C.; Sullivan, R.; Mullen, B.; Jarvi, K.; Diamandis, E.P.; Drabovich, A.P. (2017). "Preclinical evaluation of a TEX101 protein ELISA test for the differential diagnosis of male infertility". BMC Medicine. 15 (1): 60. doi:10.1186/s12916-017-0817-5. PMC 5363040. PMID 28330469.
  6. ↑ "Use of Semen TEX101 to Improve Sperm Retrieval Rates for Men with Non-obstructive Azoospermia". 8 March 2019. {{cite journal}}: Cite journal requires |journal= (help)
  7. ↑ Talas H, Yaman O, Aydos K (Sep 2007). "Outcome of repeated micro-surgical testicular sperm extraction in patients with non-obstructive azoospermia". Asian J. Androl. 9 (5): 668–73. doi:10.1111/J.1745-7262.2007.00273.X. PMID 17712484.
  8. ↑ Levin HS (September 1979). "Testicular biopsy in the study of male infertility: its current usefulness, histologic techniques, and prospects for the future". Hum. Pathol. 10 (5): 569–84. doi:10.1016/S0046-8177(79)80100-8. PMID 43278.
  9. ↑ Tahereh Modarresi, Hani Hosseinifar, Ali Daliri Hampa, Mohammad Chehrazi, Jalil Hosseini, Faramarz Farrahi, … Mohammad Ali Sadighi Gilani. (2017). Predictive Factors of Successful Microdissection Testicular Sperm Extraction in Patients with Presumed Sertoli Cell-Only Syndrome. Int J Fertil Steril, 9(1).
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