Article
Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing.
Hormone research in paediatrics - 1 Jan 2017
Swartz Jonathan M, Ciarlo Ryan, Guo Michael H, Abrha Aser, Diamond David A, Chan Yee-Ming, Hirschhorn Joel N
Abstract excerpt
BACKGROUND: 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. METHODS: Whole-exome sequencing was utilized to study 10 undervirilized 46,XY subjects with bifid scrotum. RESULTS: Exome sequencing identified...
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