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Prenatal diagnosis of congenital adrenal hyperplasia: a case report

By
Nelvis Delgado Zayas ,
Nelvis Delgado Zayas

Policlínico Docente Federico Capdevilla, La Habana, Cuba

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Yovany Enrique Vázquez Martínez ,
Yovany Enrique Vázquez Martínez

Hospital Ginecobstétrico Ramón González Coro, La Habana, Cuba

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Daniel Quintana Hernández ,
Daniel Quintana Hernández

Hospital Materno Infantil Manuel Piti Fajardo, Mayabeque, Cuba

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Maidalys Bravo Ramírez ,
Maidalys Bravo Ramírez

Centro Nacional de Genética Médica, La Habana, Cuba

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Abstract

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.

How to Cite

1.
Delgado Zayas N, Vázquez Martínez YE, Quintana Hernández D, Bravo Ramírez M. Prenatal diagnosis of congenital adrenal hyperplasia: a case report. Salud, Ciencia y Tecnología - Serie de Conferencias [Internet]. 2023 May 8 [cited 2024 Mar. 28];2:164. Available from: https://conferencias.saludcyt.ar/index.php/sctconf/article/view/164

The article is distributed under the Creative Commons Attribution 4.0 License. Unless otherwise stated, associated published material is distributed under the same licence.

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