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Congenital Adrenal Hyperplasia

Case Detail

Anatomy: Genitourinary
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 11 years ago
Updated: over 11 years ago
Tags: PEDS
Modality/Study Types: US
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Newborn female with clitoromegaly.

Case Images


Congenital Adrenal Hyperplasia

Clinical Notes

17 hydroxyprogesterone 37,400 ng/dL (<630 ng/dL)


“Cerebriform” appearance of bilaterally enlarged adrenal glands. Normal corticomedullary differentiation maintained.


Congenital adrenal hyperplasia represents a group of autosomal recessive disorders of cortisol and/or aldosterone synthesis. Females usually present with ambiguous genitalia or precocious sexual development secondary to excess adrenal androgens and hyperpigmentation secondary to increase in corticotropic hormone (ACTH). Males usually present with failure to thrive, vomiting, dehydration, hypotension and/or electrolyte imbalance secondary to disturbed mineral corticoid production (often clinically confused with pyloric stenosis). Ultrasound is necessary to evaluate the internal genitalia and adrenal glands. Adrenal glands greater than 20 mm in length, 4 mm in thickness and/or a cerebriform morphology are considered abnormal.


-Avni EF, et al. Sonographic Demonstration of CAH in the Neonate: The Cerebriform Pattern. Pediatric Radiology 1993; 23:88-90.
-Sivit CJ, et al. Sonography in Neonatal Adrenal Hyperplasia. AJR 1991; 156:141-143.

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