Androgen receptor gene trinucleotide repeats as a marker for tracing disease in a family with intersex patients

Mutations of the androgen receptor (AR) gene give rise to a wide array of phenotypic abnormalities. Various mutations of the AR gene and expanded polyglutamine repeats (CAG) at exon 1 of the gene have 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 both CAG and GGN repeats. All affected children inherited the longer CAG and GGN repeat from their mother and all their healthy siblings inherited shorter CAG and GGN repeat. Only one girl had heterozygous situation like her mother. Our results indicated that disease locus is in linkage disequilibrium with the CAG and GGN trinucleotide repeats in the AR gene.