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Articles » Genital anomalies » Ambiguous genitalia
2016-11-26  Ambiguous genitalia  © Emmanuel Julien

Ambiguous genitalia
Emmanuel Julien, MD.

Case report

Following 2D, 3D and postnatal images represent a case of ambiguous genitalia diagnosed during the second and third trimester of pregnancy. There was no SRY gene in maternal blood analysis.
The geneticist opted for an amniocentesis which found a CYP21A2 mutation of the 21 hydroxylase, confirming the diagnosis of congenital adrenal hyperplasia.

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