Sertoli cell-only syndrome
| Sertoli cell-only syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 305700 400042 |
| DiseasesDB | 31907 |
| eMedicine | med/2104 |
| Patient UK | Sertoli cell-only syndrome |
| 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
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 . Seminal plasma protein TEX101 was proposed for differentiation of Sertoli cell-only syndrome from maturation arrest and hypospermatogenesis.[3]
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.[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.
