A young girl presents with primary amenorrhoea, grade V thelarche, grade II pubarche and no axillary hair. The most probable diagnosis is
Testicular feminization syndrome - complete androgen resistance, presents as phenotypic young woman without sexual hair but with normal breast development and primary amenorrhoea Complete testicular feminization is a common form of male pseudohermaphroditism. It is the 3rd most common cause of primary amenorrhea after gonadal dysgenesis and congenital absence of the vagina. The features are characteristic. Namely, a ''woman" is asceained either because of inguinal hernia (prepubeal) or primary amenorrhea (postpubeal). The development of the breasts, the habitus, and the distribution of body fat are female in character so that most have a ''truly" feminine appearance. Axillary and pubic hairs are absent or scanty, but some vulval hairs are usually present. Scalp hairs are that of a normal woman, and facial hairs are absent. The external genitalia are unambiguously female, and the clitoris is normal. The vagina is sho and blind-ending and may be absent or rudimentary. All internal genitalia are absent except for testes that contain normal Leydig cells and seminiferous tubules without spermatogenesis. The testes may be located in the abdomen, along the course of the inguinal canal, or in the labia majora.
Testicular feminization
Mullerian agenesis
Turner syndrome
Gonadal dysgenesis