Spermatogenic failure, X-linked, 1

Preferred Label : Spermatogenic failure, X-linked, 1;

Symbol : SPGFX1;

CISMeF acronym : SPGFX1;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Sertoli cell-only syndrome; Germinal cell aplasia; Del castillo syndrome;

Description : In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules (Sargent et al., 1999). There is evidence that Sertoli cell-only syndrome can be caused by interstitial deletions in the 'azoospermia factor' (AZF) region on the long arm of the Y chromosome (SPGFY1; 400042). - Heterogeneity of Spermatogenic Failure Another form of X-linked spermatogenic failure (SPGFX2; 309120) is associated with defects in meiosis. For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).;

Inheritance : X-linked;

Prefixed ID : 305700;

Details

Origin ID

305700;

UMLS CUI

C1384583;

Currated CISMeF NLP mapping
- Congenital absence of germinal epithelium of testes (disorder) [SNOMED CT concept]
- Del Castillo syndrome [MedDRA LLT]
- Sertoli Cell-Only Syndrome [NCIt concept]
- Sertoli cell only syndrome [PASCAL descriptor]
- Sertoli cell-only syndrome [DO Concept]
- Sertoli-cell-only syndrome [MedDRA Preferred Term]
- X-linked spermatogenic failure 1 [DO Concept]
- congenital absence of germinal epithelium of testes [SNOMED Notion]
- sertoli Cell-Only syndrome [MeSH Descriptor]
- sertoli Cell-Only syndrome [MeSH concept]
DO Cross reference
- X-linked spermatogenic failure 1 [DO Concept]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Gynecomastia [HPO term]
- Male-limited autosomal dominant [HPO term]
- Obesity [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Male infertility with azoospermia or oligozoospermia due to single gene mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital absence of germinal epithelium of testes (disorder) [SNOMED CT concept]
- Del Castillo syndrome [MedDRA LLT]
- Sertoli Cell-Only Syndrome [NCIt concept]
- Sertoli cell only syndrome [PASCAL descriptor]
- Sertoli cell-only syndrome [DO Concept]
- Sertoli-cell-only syndrome [MedDRA Preferred Term]
- X-linked spermatogenic failure 1 [DO Concept]
- congenital absence of germinal epithelium of testes [SNOMED Notion]
- sertoli Cell-Only syndrome [MeSH Descriptor]
- sertoli Cell-Only syndrome [MeSH concept]

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