XX male: 3 case reports during childhood

Abstract

We report on three patients with the clinical condition known as "XX male", which is uncommon in the pediatric age group. Patients have a male phenotype (usually without ambiguous genitalia) and testes; however, the karyotype is 46,XX. The diagnosis is usually made in adult life due to infertility; it may also be done by the pediatrician when there is ambiguous genitalia or gynecomastia. The SRY gene (Sex-determining Region of the Y chromosome) is detected in most cases, thus explaining the origin of testicular development; however, it is absent in 20% of the cases, thus indicating that gonadal determination is a complex process which depends on the interaction of many genes and transcription factors. The finding of only 3 cases in two reference services in a 30-year period indicates the rarity of this disorder among intersex cases.