Androgen insensitivity syndrome
: clinical features and molecular defects.
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome
. J Clin Endocrinol Metab 2000;85:658-665.
Most of 46 XX CAH patients, even if markedly virilised, and 46 XY complete androgen insensitivity syndrome
are raised as females.26,27 Surgery include clitorplasty, labioplasty and vaginoplasty28 but almost 90% will only require vaginoplasty.29 Patients of 5-[alpha] reductase deficiency30 and 17-[beta] hydroxysteroid dehydrogenase deficiency31 are assigned to the male gender.
Two of them were reported to have complete androgen insensitivity syndrome
whereas the other one had partial androgen insensitivity syndrome
Among those with 46XY DSD, the largest group studied has partial androgen insensitivity syndrome
Phenotypic features, androgen receptor binding and mutational analysis of 278 clinical cases reported as Androgen Insensitivity Syndrome
. Clin Endocrinol Metab 2000;85:658-65.
The women were all born with androgen insensitivity syndrome
(AIS), which means they have XY, or male, chromosomes, but are either partially or completely insensitive to the sex hormone testosterone.
Patients with complete androgen insensitivity syndrome
were advised female gender.
He discusses (and shows home pages) from such sites as Organisation Intersex International and Androgen Insensitivity Syndrome
TORONTO-- Teenagers with complete androgen insensitivity syndrome
need to be told that they are at high risk for sexual dysfunction, Dr.
Clinical evidence can be derived from patients who have the androgen insensitivity syndrome
as a result of inactivating mutations in the androgen receptor gene.
Mutations in AR gene disrupt function of Androgen receptor, such as missense amino acid substitutions, leading to diminished spermatogenesis and enhanced feminization of individual, resulting in complete androgen insensitivity syndrome