Clinical and Biochemical Profile of Patients with 46, XY Disorders of Sex Development

Abstract

he term disorders of sex development (DSD) encompasses a spectrum of phenotypes that include three main groups: sex chromosome DSD, 46, XX DSD, and 46, XY DSD. The overall incidence of DSD is not precisely detected, owing to the difficulties of achieving accurate clinical diagnosis and the lack of diagnosis of many patients until late childhood. DSD represent a complex emotional and social problem for the patients and their families, especially in Middle Eastern/African countries. It also constitutes a great burden on public health services due to its sophisticated management options, lack of professional counselors, and long-term surgical decisions. Various forms of fetal genital abnormalities and syndromes with sex chromosomal aneuploidy could be prenatally diagnosed. The prognosis and pregnancy outcome are highly variable depending on the type of aneuploidy and the association of somatic malformations. Early and precise prenatal diagnosis can pose a great impact on prenatal counseling and subsequent elective termination.