A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant | Zendy

Jonathan M. Swartz | Zendy; Ryan Ciarlo | Zendy; Michael H. Guo | Zendy; Aser Abrha | Zendy; Benjamin Weaver | Zendy; David A. Diamond | Zendy; Yee-Ming Chan | Zendy; Joel N. Hirschhorn | Zendy

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A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant

Author(s) -

Jonathan M. Swartz,

Ryan Ciarlo,

Michael H. Guo,

Aser Abrha,

Benjamin Weaver,

David A. Diamond,

Yee-Ming Chan,

Joel N. Hirschhorn

Publication year - 2016

Publication title -

hormone research in paediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.816

H-Index - 89

eISSN - 1663-2826

pISSN - 1663-2818

DOI - 10.1159/000452888

Subject(s) - steroidogenic factor 1 , gonadal dysgenesis , proband , disorders of sex development , biology , exome sequencing , phenotype , true hermaphroditism , genetics , gonad , endocrinology , mutation , medicine , gene , transcription factor , karyotype , nuclear receptor , chromosome

A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways.

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