Article
[Complete androgen insensitivity syndrome: a novel mutation in a Tunisian family].
Annales d'endocrinologie - 1 Jun 2008
Bel Hadj Youssef D, Kacem M, Khochtali I, Moussa A, Saidani Z, Denguezli W, Faleh R, Sakouhi M, Zakhama A, Mahjoub S, Paris F, Sultan C
Abstract excerpt
INTRODUCTION: Complete androgen insensitivity is a rare syndrome. It is caused by a mutation in the androgen receptor gene. We describe a novel mutation in exon 1. MATERIALS AND METHODS: We report the case of a 29 year-old girl with complete androgen insensitivity syndrome discovered during the exploration of a primary amenorrhoea. The family investigation revealed two other cases. RESULTS: The diagnosis was...
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