Clinical, Hormonal and Genetics Features in patients with Androgen Insensitivity Syndrome in Cytogenetic Laboratories in Semarang

Abstract

Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by impaired Androgen Receptor (AR) which is encoded in Xq 11-12. In this condition, although the androgen is produced sufficiently, but the peripheral masculinizing effect is blocked, therefore sexual ambiguity occurred. Lack of information and knowledge of both medical personnel and community made AIS frequently misdiagnose and mismanagement. This was a descriptive retrospective and prospective study following the clinical, hormonal, cytogenetic, and molecular study from subjects with suspected AIS from the molecular and cytogenetic laboratories in Semarang during April 2004 to April 2005. Medical record was obtained from Molecular and Cytogenetic Unit in Medical Faculty of Diponegoro University and Cytogenetic Laboratory of Telogorejo Hospital. Quigley stage measurement in 46 PAIS cases were found in stage 3 for 18 (39,1%); in stage 2 for 16 cases (34,8%); in stage 4 for 6 cases (13%); in stage 6 for 3 cases (6,5%); in stage 1 for 2 cases (4,3%) and in stage 5 for 1 case (2,2%). Twelve individuals were raised as female whose 2 of them had been operated for gender adjustment to male. There were two large families with familial PAIS suggested an X-linked inheritance. Eight subjects (16,33%) showed the characteristic of PAIS hormone. Four out of nine subjects who had been examined using molecular analysis showed missense mutation R840H and I603N. The diagnosis of PAIS need a complex assessment, not only based on physical examination but also should be considered using hormonal, cytogenetic and molecular analysis. The majority of patients came from low socioeconomic background, expensive cost and the availability of hormonal and molecular analysis in Indonesia is the main constraint in establishing the diagnosis. Keywords : Androgen Insensitivity Syndrome, clinical features, hormones, AR-gene mutations.