[Inguinal hernia in a young girl; sporadic manifestation of testicular feminization].
Examination of a woman aged 17 years with primary amenorrhoea revealed normal breasts and external genital organs, hardly any axillary or pubic hair growth, a blind vaginal pouch and no palpable uterus or adnexa. At additional examination, uterus and adnexa proved to be absent, the serum testosterone concentration was substantially increased and the karyotype was 46,XY. The diagnosis was 'testicular feminization' (androgen insensitivity syndrome). The patient in childhood had undergone a bilateral inguinal hernia operation, at which 'ovaries' were found in the hernial sacs. It might have been interpreted as the first sign of the syndrome; such a finding necessitates further examination. Most patients with testicular feminization seek medical advice because of primary amenorrhoea. Early diagnosis is important because the risk of malignant degeneration of the intra-abdominal testes increases with advancing age (sometimes also in relatives). Also it makes it possible gradually to prepare the child for her future.
Ubachs
J M
JM
Afd. Gynaecologie, Stichting Gezondheidszorg Oostelijk Zuid-Limburg, Heerlen.
Brink
P R
PR
D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006552:Hernia, Inguinal / Q000150:complications* / Q000601:surgery; D006801:Humans; D007621:Karyotyping; D008297:Male