Discussion :
Congenital adrenal hyperplasia. There is ambiguous genitalia in form of clitoromegaly with rugosity of fused labia majora. Testes were not seen and gonads are hyperpigmented. Patients present classically with salt wasting and with vomiting, diarrhea, dehydration, failure to thrive and adrenal crisis may manifest within first 3-4 weeks of life. Diagnosis is by estimation of serum 17 hydroxy progesterone which is elevated (usually > 20 ng/ml) and increased testosterone in females. Treatment consists of life long synthetic glucocorticoid supplementation to replace deficient cortisol. |
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Last Shown : Jan 2005
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