[Complete androgen insensitivity syndrome: a novel mutation in a Tunisian family].
BACKGROUND
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.


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.


CONCLUSIONS
Through these cases, clinical, hormonal and histological particularities were analysed.
Bel Hadj Youssef
D
D
Service de médecine interne et d'endocrinologie, hôpital Fattouma-Bourguiba, CHU de Monastir, 5000 Monastir, Tunisie. dorsaf_bhy@yahoo.fr
Kacem
M
M
Khochtali
I
I
Moussa
A
A
Saidani
Z
Z
Denguezli
W
W
Faleh
R
R
Sakouhi
M
M
Zakhama
A
A
Mahjoub
S
S
Paris
F
F
Sultan
C
C
D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D009154:Mutation; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics*; D017384:Sequence Deletion; D013737:Testis / Q000473:pathology; D014416:Tunisia
D011944:Receptors, Androgen