Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB.
Domenice S, et al.
Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145.
Birth Defects Res C Embryo Today. 2016.
PMID: 28033660
Free PMC article.
Review.
In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). ...Notably, an undervir …
In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,X …