چكيده لاتين :
Mutations of the androgen receptor (AR) gene give rise to a wide array of phenotypic abnormalities.
Various mutations of the AR geneand expanded polyglutamine repeats (CAG) at exon 1 of the genehave
been reported in patients with infertility and neurodegenerative diseases. However, the role of the AR
gene trinucleotides repeats has not been systemically studied in those with hypospadias or genital
ambiguity. In this study it was tried to find out the potential association between these repeats and sexual
development in a family consisted of 10 persons including one girl with primary amenorrhea and two
boys with severe hypospadias.
Mother was heterozygote for bothCAG andGGN repeats. All affected children inherited the longer CAG
and GGN repeat from their mother and all their healthy siblings inherited shorter CAG andGGN repeat.
Onlyone girl had heterozygous situation likeher mother.
Our results indicated that disease locus is in linkage disequilibrium with the CAG and GGN trinucleotide
repeats in theAR gene.