Article
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
The Journal of clinical endocrinology and metabolism - 1 Apr 2010
Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu M A, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada M L, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena M J, Del Valle J, García E, Gracia-Bouthelier R, Lapunzina P, Mayayo E, Labarta J I, Lledó G, Sánchez Del Pozo J, Arroyo J, Pérez-Aytes A, Beneyto M, Segura A, Borrás V, Gabau E, Caimarí M, Rodríguez A, Martínez-Aedo M J, Carrera M, Castaño L, Andrade M, Bermúdez de la Vega J A
Abstract excerpt
BACKGROUND: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partia...
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