- 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 is the result of absent seminiferous tubules in the testes of germinal epithelium, while Sertoli cells are present.[2]
Contents
Features
The Sertoli cell-only syndrome patients normally have normal secondary male features and have normal- or small-sized testes.
Diagnosis
Testicular biopsy would confirm the absence of spermatozoa .
Pathophysiology
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
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.[3] On retrieval of viable sperms 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.[4] It is important to discriminate between both in view of ICSI.
References
- ^ Sertoli cell-only syndrome at eMedicine
- ^ Online Medical Dictionary.
- ^ 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.
- ^ 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.
Male congenital anomalies of the genitalia, including Intersex and DSD: (Q53–Q56 · 752.5–752.7) Internal OtherExternal OtherCategories:- Endocrine gonad disorders
- Syndromes
- Genetic disorders
- Congenital disorders of male genital organs
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