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External genitalia

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Various abnormalities of the vulva are caused by disturbances of sexual differentiation, leading to an ambiguous appearance of the external genitalia. Other developmental defects, such as duplication, often occur in association with abnormalities of the upper reproductive tract and urinary system.

The clitoris may be absent [63], probably as a result of the genital tubercles remaining hypoplastic or failing to fuse. A penis‐like clitoris in 46,XX DSD is described which is likely to be due to abnormality in the development of the cloacal membrane [64]. Clitoral enlargement occurs in several genetic syndromes (see Chapter 51).

Agenesis of the labia minora and clitoris has been described in isolation [65]. Hypertrophy and/or marked asymmetry of the labia minora may occur without any underlying problem. True hypoplasia of the labia minora occurs infrequently and may be a sign of defective steroidogenesis. Fusion of the labia minora may occur in association with defective sexual differentiation and should not be confused with the superficial labial adhesions seen in the neonatal period or in infancy as a result of an inflammatory condition.

Ridley's The Vulva

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