Annales d'endocrinologie · 2008
[Complete androgen insensitivity syndrome: a novel mutation in a Tunisian family].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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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
Аннотация
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 oriented by the clinical and the biological features and confirmed by the molecular study. A new mutation of the androgen receptor gene, as a deletion in exon 1 not described previously, was identified.
CONCLUSION: Through these cases, clinical, hormonal and histological particularities were analysed.
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 oriented by the clinical and the biological features and confirmed by the molecular study. A new mutation of the androgen receptor gene, as a deletion in exon 1 not described previously, was identified.
CONCLUSION: Through these cases, clinical, hormonal and histological particularities were analysed.