Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome.

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...

Complete Androgen Insensitivity Syndrome in Three Sisters

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...

Male sex steroids (androgens) sculpture the human embryo resulting in development of the male internal and external genitalia. At puberty, a surge of androgens leads to the in- itiation of spermatogenesis and growth of accessory sex organs,

Male sex steroids (androgens) sculpture the human embryo resulting in development of the male internal and external genitalia. At puberty, a surge of androgens leads to the initiation of spermatogenesis and growth of accessory sex organs, including the prostate gland. Sperm production is highly dependent on androgens (Zirkin et al., 1989) and it has long been suspected that suboptimal androgen ...

Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family.

We studied a family with two cousins who were diagnosed with complete androgen insensitivity syndrome, an X-linked disorder caused by mutations in the androgen receptor gene. A pedigree analysis and a molecular study using PCR and DNA sequencing clarified each female family member's androgen receptor status and revealed a mutation consisting of the deletion of exon 2 and surrounding introns of ...