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Updated: Jul 5, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
[Complete androgen insensitivity syndrome: a novel mutation in a Tunisian family]
D Bel Hadj Youssef1, M Kacem, I Khochtali
1Service de médecine interne et d'endocrinologie, hôpital Fattouma-Bourguiba, CHU de Monastir, 5000 Monastir, Tunisie. dorsaf_bhy@yahoo.fr
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.
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