Medicinski vjesnik, Vol. 39 No. (1-4), 2007.
Review article
Complete androgen insensitivity syndrome
Jasenka Wagner
Ivana Škrlec
Sanela Štibi
Barbara Viljetić
Silvija Pušeljić
Feodora Stipoljev
Marija Heffer-Lauc
Abstract
Complete Androgen Insensitivity Syndrome is found in adolescent girls with the absence of menarche or in younger girls with inguinal hernia. The absence of structures that develop from Müllerian ducts (uterus, oviducts and upper part of vagina) was found during gynecological examination. Phenotypically they are female, but with a male genotype (46, XY). Classical karyogram is supplemented with FISH SRY probe. SRY gene functions normally in these girls, so that they have normal male gonads situated intraabdominally or inguinally. Syndrome is caused by the mutation of androgen receptor that is inherited X-linked recessively and confirmed by molecular genetic analysis. Although they are completely healthy persons, their diagnosis has psychosocial consequences that require a multi-disciplinary approach.
Keywords
Androgen insensitivity syndrome, complete; Sex chromosomes; Chromosomes, human, X; Chromosomes, human, Y; In situ hybridization, fluorescence; Genes, sry; Receptors, androgen
Hrčak ID:
191452
URI
Publication date:
1.12.2007.
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