P450c17 deficiency caused by compound heterozygosity for two novel mutations presenting as hypotension in early infancy.

Abstract excerpt

BACKGROUND/AIMS: P450c17 deficiency is an uncommon steroidogenic disorder that typically presents as a sexually infantile adolescent phenotypic female with hypertension and hypokalemia. Although cortisol synthesis is impaired, elevated corticosterone and deoxycorticosterone ordinarily prevent adrenal insufficiency. Thus, diagnosis prior to puberty is rare. We report novel clinical features of an infant with...

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