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Wayan Bikin Suryawan
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Health Professions Medicine & Pharmacology

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Male pseudohermaphroditism due to 5-alpha reductase type-2 deficiency in a 20-month old boy Ida Bagus Andhita; Wayan Bikin Suryawan
Paediatrica Indonesiana Vol 46 No 5 (2006): September 2006
Publisher : Indonesian Pediatric Society

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (2054.767 KB) | DOI: 10.14238/pi46.5.2006.236-40

Abstract

5-alpha-reductase (5-ARD) type 2 deficiencyis an autosomal sex-linked disorder, resulting inthe inability to convert testosterone to the morephysiological active dihydrotestosterone (DHT).DHT is the most potent androgen, bound selec-tively to the androgen receptors in genital skin andfibroblasts, making its action necessary for the de-velopment of normal male genital anatomy. SinceDHT is required for normal masculinizaton of theexternal genitalia in utero, genetic males with 5-ARD are usually born with ambiguous genitalia(male pseudohermaphroditism). The hallmarkof 5-ARD is elevated ratio of serum testosteroneto DHT. In healthy prepubertal children, thebaseline testosterone-to-DHT ratio is 1:2. Thispaper reports a 20-month old patient with malepseudohermaphroditism due to 5-alpha reductasetype-2 deficiency.
Co-Authors Ida Bagus Andhita