Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.

ABSTRACT:

Background

One in 4500 children is born with ambiguous genitalia, milder phenotypes occur in one in 300 newborns. Conventional time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20-40% of 46,XY cases with ambiguous genitalia. All others remain without a definitive diagnosis. The investigation of milder cases, as suggested by recent reports remains controversial.

Methods

Integrated clinical, hormonal and genetic screening was performed in a sequential series of 46, XY children, sex-assigned male, who were referred to our pediatric endocrine service for atypical genitalia (2007-2013).

Results

A consecutive cohort of undervirilized 46,XY children with external masculinization score (EMS) 2-12, was extensively investigated. In four patients

SUBMITTER: Baetens D 

PROVIDER: S-EPMC4271496 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature