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...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2021-01-01
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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 |