5-Alpha-Reductase Deficiency in a Saudi Girl

November 1995 in “ Postgraduate medical journal ”

John Punnose, K. Sukanya Mathew, Haroon Ahmed

5-alpha-reductase deficiency testosterone dihydrotestosterone ambiguous genitalia genetic disorder DHT

TLDR A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.

The document discussed a case of 5-alpha-reductase deficiency in a Saudi individual who was initially identified as a girl. This condition, which affects the conversion of testosterone to dihydrotestosterone, led to ambiguous genitalia at birth. The case highlighted the importance of recognizing and diagnosing this genetic disorder, which can significantly impact gender identity and development. The study underscored the need for awareness and appropriate medical intervention in such cases.

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