Androgen insensitivity syndrome: do trinucleotide repeats in androgen receptor gene have any role?

P-119: Survey of Genetic Alterations in Exon1 of Androgen Receptor Gene in Azoospermic Patients

Background Androgen receptor (AR) mediates androgen actions such as initiation and promotion of spermatogenesis and growth of accessory sex organs. There are two trinucleotide polymorphisms (CAG and GGN repeats) in exon1 of AR gene that are vary in length in population. The CAG and GGN repeats association with infertility is still unknown and this study is planned to assess the distribution of ...

P-91: Androgen Associated Gene Polymorphism(s) in Women with Polycystic Ovary Syndrome from South Indian Population

Background: Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder affecting 4-12% of reproductive women worldwide; characterized by chronic anovulation, clinical and/or biochemical hyperandrogenism, and polycystic ovaries on ultrasound scan. Ovarian androgen overproduction is the key pathophysiologic feature of PCOS. A number of genes encoding major enzymes of the androgen meta...

P-118: Triplet Nucleotide Repeats Expansion (CAG and GGN) of Androgen Receptor Gene in Infertile Patients with Abnormal Spermogram

Background s:648:"The infertility has recently been estimated to affect approximately 9% of couples worldwide. Androgens and a functional androgen receptor (AR) are essential for normal development of the male gender, and for maintenance of spermatogenesis throughout the life. Two polymorphic trinucleotide repeats, CAG and GGN, encoding for the amino acids glutamine and glycine, respectively ar...

Complete Androgen Insensitivity Syndrome in Three Sisters

Androgen receptor gene and male infertility.

Androgens are critical steroid hormones that determine the expression of the male phenotype. Their actions are mediated by a single androgen receptor (AR) which, upon ligand binding, translocates to the nucleus to regulate the expression of androgen-responsive genes. Mutations that disrupt AR function totally result in the complete feminization of 46 XY individuals and the complete androgen ins...