Androgen Insensitivity Syndrome

Recent findings in androgen-insensitivity syndrome described by Y.W. Jeske and colleagues

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"AR defects were found in 66.7% (6/9) of patients with complete AIS (CAIS) and 13.6% (3/22) of patients with partial AIS (PAIS). A novel deletion (N858delG) leading to a premature stop codon was found in CAIS patient P1. CAIS patient P2 has a novel deletion (N2676delGAGT) resulting in a stop at codon 787. These mutations would result in inactivation of AR protein. A novel insertion of a cysteine residue in the first zinc finger of the AR DNA-binding domain (N2045_2047dupCTG) was found in CAIS patient P3. PAIS patient P4 has a novel amino acid substitution (Arg760Ser) in the AR ligand binding domain, which may impair ligand binding," wrote Y.W. Jeske and colleagues, .

The researchers concluded: "Five patients were found to have previously reported AR mutations and no mutations were identified in the remaining patients."

Jeske and colleagues published their study in the Journal of Pediatric Endocrinology & Metabolism (Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations. Journal of Pediatric Endocrinology & Metabolism, 2007;20(8):893-908).

For additional information, contact Y.W. Jeske, Mater Hospitals, Brisbane, QLD, Australia.

The publisher of the Journal of Pediatric Endocrinology & Metabolism can be contacted at: Freund Publishing House Ltd., Ste. 500, Chesham House, 150 Regent St., London W1R 5FA, England.

Keywords: Australia, Brisbane, Androgen Insensitivity Syndrome, Androgen-insensitivity Syndrome, Endocrinology, Genetics, Metabolism, Pediatric.

This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.