clinical features

Last reviewed 07/2021

The external genitalia are feminine, but because the Mullerian duct has failed to develop, the vagina is blind ending. Ovaries and uterus are absent.

The testes fail to descend and may be found in the groin or less commonly, intra-abdominally.

At puberty, breast development occurs and female contours form but there is little or no pubic or axillary hair. Adults present with primary amenorrhoea.

Incomplete testicular feminisation may result in micropenis, bifid scrotum and perineal hypospadias.