Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization.

P-84: Characterization of Androgen Receptor Structure and Nucleocytoplasmic Shuttling of the Rice Field Eel

Background: Androgen receptor (AR) plays a critical role in prostate cancer and male sexual differentiation.Mechanisms by which AR acts and regulations of AR nucleocytoplasmic shuttling are not understood well. Materials and Methods: Degenerate PCR and RACE Cloning of AR Gene; Phylogenetic Analysis and Molecular Modeling;Real-time Fluorescent Quantitative RT-PCR; Northern Blot Hybridization;In ...

Complete Androgen Insensitivity Syndrome in Three Sisters

Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.

Mutations in the X-linked androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity (CAIS) produces a female external phenotype, whereas cases with partial androgen insensitivity (PAIS) have various ambiguities of the genitalia. Mild androgen insensitivity (MAIS) is charac...

P-231: Androgen Receptor Gene Expression in Azoospermia Men

Background: Androgens are critical steroid hormones in progression of spermatogenesis process and determine the male phenotype that their actions are mediated by the androgen receptor (AR), a member of the nuclear receptor superfamily. In the Androgen receptor, transactivation domain encoded by exon 1, DNA binding domain encoded by exons 2 and 3, hinge region encoded by part of exon 4, and C-te...

L859F mutation in androgen receptor gene results in complete loss of androgen binding to the receptor.

Androgens drive male secondary sexual differentiation and maturation. Mutations in the androgen receptor (AR) gene cause an array of abnormal sex differentiation phenotypes in humans, ranging from mild through partial to complete androgen insensitivity. Earlier, we reported a C3693T missense mutation in the AR gene in a familial case of complete androgen insensitivity syndrome (CAIS), resulting...