Open AccessA 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.