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 (PAIS) [8].
Phenotypic features, androgen receptor binding and mutational analysis of 278 clinical cases reported as
Androgen Insensitivity Syndrome. Clin Endocrinol Metab 2000;85:658-65.
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 Support Group.
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.4