Presentation
Neonate presenting with ambiguous genitalia.
Patient Data
Age: 1 month
Gender: Unknown
From the case:
Congenital adrenal hyperplasia
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Ultrasound shows bilaterally enlarged adrenal glands showing lobulated margins and cerebriform appearance. Pelvic examination reveals the presence of a uterus.
Case Discussion
A case of a neonate presenting with ambiguous genitalia. Ultrasound shows enlarged, lobulated adrenal glands bilaterally with the characteristic cerebriform appearance suggestive of congenital adrenal hyperplasia. Pelvic ultrasound reveals the presence of a uterus suggesting a case of female pseudohermaphroditism with virilization. The diagnosis was confirmed with karyotyping of 46xx and high levels of 17-OH progesterone laboratory values.