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Freibergs Infraction
Heather Borders, MD
over 7 years ago
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Case History


Newborn female with clitoromegaly.


Case Detail

Anatomy: Genitourinary
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Metabolic
Created: over 8 years ago
Updated: over 8 years ago
Tags: PEDS
Modality/Study Types: US
Activities:
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Reveal Clinical Notes

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

Reveal Findings

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

Reveal Discussion

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.

Reveal Diagnosis

Congenital Adrenal Hyperplasia

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