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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom