5-alpha-reductase deficiency physical examination

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5-alpha-reductase deficiency Microchapters

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Differentiating 5-alpha-reductase deficiency from other Diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Physical Examination

In individuals with feminised or ambiguous genitalia, there is a tendency towards an enlarged clitoris, or microphallus, and the urethra may attach to the phallus. This structure may be capable of erections as well as ejaculations. Individuals with 5-ARD are generally capable of producing viable sperm, however artificial insemination techniques or in-vitro fertilisation are necessary.

At puberty, individuals often have primary amenorrhoea, and may experience virilisation. This may include descending of the testes, hirsuitism and deepening of the voice. In adulthood, individuals do not experience male-pattern baldness.[1]

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