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5-alpha reductase deficiency (5-ARD)

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Individuals with XY chromosomes and testes produce typical levels of testosterone but lack the enzyme needed to convert testosterone into dihydrotestosterone (DHT). This affects the development of their external sex characteristics, often leading to genital differences noticeable at birth, which can include a smaller-than-typical penis, genitals that do not clearly resemble a typical penis or vulva, or a vulva, potentially leading to assignment as female at birth without the variation being identified. During adolescence, people with 5-ARD typically develop features associated with a normal testosterone puberty, such as increased muscle mass and a deeper voice, and may experience genital growth.

Sentiment MeaningNeutral - Can be used

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