Abstract

46,XY DISORDER OF SEX DEVELOPMENT: PRENATAL ULTRASOUND IMAGING AND GENETIC TESTING

Dinu-Florin Albu, Adriana Vasilache, Stefan-Dimitrie Albu and Cristina-Crenguta Albu*

Abstract

Disorders of sex development are congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical. We are presenting here a phenotypic variety of a rare case of 46, XY disorder of sex development, successfully detected prenatally by fetal DNA testing and ultrasound examination at 25 weeks of gestation and postnatally confirmed. The case report highlights the crucial role of prenatal sonography and genetic testing in the early diagnosis and specific management of severe cases of ambiguous genitalia.

Keywords: disorder of sex development, ambiguous genitalia, ultrasound examination, prenatal diagnosis.