Molecular, Cytogenetic, Hormonal and Clinical Characterization of Ten XX Males Including Genetic Counseling

Abstract

Genetic counseling is not easy for patients with sexual chromosomal abnormalities. In patients in whom there is no correlation between phenotype and karyotype it is even more difficult. We present seven adults and three prepubertal males with an XX chromosomal constitution. Clinical, hormonal, cytogenetic and molecular aspects were evaluated including psychological status. All patients were phenotypic males and presented azoospermia. The SRY gene was positive in all patients. In most of them, testosterone levels were in the normal range. Gonadotropins were not always elevated. In adults, the psychological impact of the diagnosis was evident in the patients' questioning of their sexual identity and in the depression caused by the confirmed sterility. Children's parents were concerned about secondary sexual development and phenotypic stigmata. The aim of this report is to delineate some aspects of genetic counseling for sexual chromosomal abnormalities and to highlight the need of a multidisciplinary team to be especially sensitive to the true sexual identity (phenotypic and psychosocial) that is more relevant than chromosomal sex.