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Diagnosis of Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH) is a disease of multiple hormonal imbalances. Mutations in CYP21A2 (the gene encoding 21-hydroxylase, a cytochrome P-450 enzyme) result in lack of 21-hydroxylase, which is required for the production of cortisol and aldosterone in the adrenal cortex. A deficiency of this enzyme has cascading effects. Reduced cortisol leads to overproduction of pituitary corticotropin, which stimulates the accumulation of cortisol precursors and their subsequent diversion through the steroid pathways that produce adrenal androgens. Today, the classic form is the most common cause of atypical genitalia in 46,XX newborns and of primary adrenal insufficiency during childhood. Continue reading “Diagnosis of Congenital Adrenal Hyperplasia”

Features of Congenital Zika Syndrome

The majority (50 to 80%) of Zika virus (ZIKV) infections are asymptomatic. Symptomatic ZIKV infection has an incubation period of 3 to 14 days and is a mild illness, with a duration of up to 1 week, that manifests as a rash, low-grade fever, arthralgia and myalgia, and conjunctivitis. Complications are infrequent, but when they occur, they are severe and may be fatal. Continue reading “Features of Congenital Zika Syndrome”

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