Sertoli cell-only syndrome

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]

Sertoli cell-only syndrome
Other namesDel Castillo syndrome
SpecialtyEndocrinology, andrology 

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]

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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