Policlínico Docente Federico Capdevilla, La Habana, Cuba
Hospital Ginecobstétrico Ramón González Coro, La Habana, Cuba
Hospital Materno Infantil Manuel Piti Fajardo, Mayabeque, Cuba
Centro Nacional de Genética Médica, La Habana, Cuba
Introduction: Congenital adrenal hyperplasia (CAH) includes a group of autosomal recessive disorders affecting cortisol biosynthesis, where affected males do not have sexual ambiguity.
Aim: To describe the diagnostic sequence of prenatal diagnosis of congenital adrenal hyperplasia in a male fetus with ambiguous genitalia.
Case report: 26-year-old primiparous pregnant woman, who at the end of the second trimester during ultrasound study describes fetal growth restriction, alterations at the level of the central nervous system and genitalia with empty scrotal pouches and genital peduncle parallel to the spine, suspecting a female fetus with ambiguous genitalia. Molecular study of congenital adrenal hyperplasia by amniocentesis and molecular diagnosis of sex is indicated.
Discussion: The molecular study allowed the prenatal diagnosis of the disease in a male fetus, the latter condition being an unexpected finding given the appearance of ambiguous genitalia in the ultrasound that suggested a female fetus.
Conclusions: The diagnostic suspicion of congenital adrenal hyperplasia in the presence of undifferentiated genitalia is important in the interest of early diagnosis for adequate genetic counseling and management of the disease.
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