[Complete androgen insensitivity syndrome: a novel mutation in a Tunisian family]. / Syndrome de résistance complète aux androgènes: nouvelle mutation chez une famille tunisienne.
Ann Endocrinol (Paris)
; 69(3): 218-26, 2008 Jun.
Article
em Fr
| MEDLINE
| ID: mdl-18462702
ABSTRACT
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 ANDMETHODS:
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Resistência a Andrógenos
/
Receptores Androgênicos
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
Africa
Idioma:
Fr
Ano de publicação:
2008
Tipo de documento:
Article