Sertoli cell-only syndrome

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Sertoli cell-only syndrome
Classification and external resources
OMIM 305700 400042
DiseasesDB 31907
eMedicine med/2104
MeSH D054331

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 the seminiferous tubules.[2]

Features[edit]

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

Diagnosis[edit]

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.[3]

Pathophysiology[edit]

Sertoli cell only syndrome is likely multifactorial, and 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. Generally speaking, testosterone and LH levels are normal, but due to lack of inhibin, FSH levels are increased.

Treatment[edit]

Sertoli cell only syndrome is like other non-obstructive azoospermia (NOA) cases are managed by sperm retrieval through testicular sperm extraction (mTESE), micro-surgical testicular sperm extraction (mTESE), or testicular biopsy.[4] 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.[5] It is important to discriminate between both in view of ICSI.

References[edit]

  1. ^ Sertoli cell-only syndrome at eMedicine
  2. ^ [1].
  3. ^ Drabovich, A. P.; Dimitromanolakis, A.; Saraon, P.; Soosaipillai, A.; Batruch, I.; Mullen, B.; 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. 
  4. ^ 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.1745-7262.2007.273.x. PMID 17712484. 
  5. ^ 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.