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Relationship between androgen receptor gene structure and protein function. Structural gene defects that promote androgen insensitivity in man Estructura del gen del receptor de andrógeno y función de la proteína. Defectos estructurales del gen que determ
(1996)
The human androgen receptor is a member of the superfamily of steroid hormone receptors and contains three functional domains: an amino-terminal region involved in the expression of androgen regulated genes, a central ...
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism
(Associação Brasileira de Divulgação Científica, 1998)
S??ndrome da Insensibilidade Androg??nica: perfil cl??nico e epidemiol??gico de uma s??rie de casos
(Revista de Ci??ncias M??dicas e Biol??gicas, 2012)
Androgen insensitivity syndrome at prepuberty: Marked loss of spermatogonial cells at early childhood and presence of gonocytes up to puberty
(Karger, 2018-02)
Androgen insensitivity syndrome (AIS) is a hereditary condition in patients with a 46,XY karyotype in which loss-of-function mutations of the androgen receptor (AR) gene are responsible for defects in virilization. The aim ...
Androgen insensitivity syndrome: Clinical phenotype and molecular analysis in a single tertiary center cohort
(Galenos Yayincilik, 2019-03)
Objective: The aim of this study was the molecular characterization of the AR gene as the cause of 46,XY disorder in our population. Methods: We studied 41, non related, 46,XY disorder of sexual differentiation index cases, ...
Late Diagnosis of Partial Androgen Insensitivity Syndrome in a Peruvian Child
(Consejo editorialPE, 2021)
Los trastornos de la diferenciación sexual son patologías congénitas caracterizadas por un desarrollo atípico del sexo genético, gonadal o fenotípico. Estos son causados por la alteración de cualquiera de las fases ...
Diagnosis of 5 alpha-reductase type 2 deficiency: Contribution of anti-Mullerian hormone evaluation
(Walter De Gruyter Gmbh, 2005-01-01)
Aim: To evaluate anti-Mullerian hormone (AMH) levels in patients with clinical and molecular diagnosis of 5 alpha-reductase 2 deficiency. Patients and Methods: Data from 14 patients whose age ranged from 21 days to 29 years ...