Phenotype variation among siblings with 5-alpha reductase deficiency: A case series

Steroid 5α-reductase deficiency (5ARD) is a rare autosomal recessive disorder caused by mutation in the 5α-reductase type 2 gene (SRD5A2). 5ARD results in the impaired conversion of testosterone (T) to dihydrotestosterone (DHT) and is characterized by undervirilization in 46XY individuals. We report...

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Bibliographic Details
Main Authors: D Sandeep Reddy, Vijay Sheker Reddy Danda, Srinivas Rao Paidipally
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Indian Journal of Urology
Online Access:http://www.indianjurol.com/article.asp?issn=0970-1591;year=2021;volume=37;issue=2;spage=183;epage=186;aulast=Reddy