Endocrine Abstracts

Introduction: Male under virilization is a rare condition mostly due to the mutations of hormones that effect male reproductive tract. One of the most important gene mutations that effect that pathway is the androgen receptor gene (AR) mutations which is located at Xq12 in individuals with 46, XX. In this report, we present the AR and SRD5A2 gene analysis of three different under-virilized patients with 47, XXY karyotype.

Methods: Chromosome analysis of the patients were assessed by standart lymphocyte karyotype, with Giemsa staining. PCRs were carried out by amplifying all the exons of related genes, and direct sequencing protocol was applied for mutation detection.

Results: One of the patients had no mutation in AR and SRD5A2 genes, but had a 23 repeat polymorphism on exon 1 of AR gene. The second had no mutation in AR gene, had a 22 and 23 repeats polymorphism, but had a homozygous p.G196S mutation in SRD5A2 gene. The third had a heterozygous mutatin in p.F891L in AR gene, with a 16 and 21 repeat polymorphism, and had no mutation in SRD5A2 gene.

Discussion: 47, XXY karyotype is a very rare condition in male virilization cases. Mutations in AR gene, in addition with SRD5A2 gene, are thought to be the common reasons of this condition. According to our results, we suggest that not only the AR gene analysis, but also SRD5A2 gene analysis and polyGLN polymorphism of the exon 1 of AR gene have important impacts for the diagnosis of male under virilization.