Open AccessTwo Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing
Author(s) -
Jonathan M. Swartz,
Ryan Ciarlo,
Michael H. Guo,
Aser Abrha,
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 - 10.1159/000448754
Subject(s) - exome sequencing , frameshift mutation , genetics , exon , biology , scrotum , exome , mutation , gene
Undervirilized 46,XY males with bifid scrotum often pose a diagnostic challenge, and the majority of cases typically do not receive a genetic diagnosis. NR5A1 mutations can be seen in 10-20% of the cases and are a relatively common cause of undervirilization.