(First of Two Parts) CONGENITAL adrenal hyperplasia results from an inherited defect in any
of the five enzymatic steps required to synthesize Cortisol from cholesterol. A defect in a …

Dr. Alfred m. Bongiovanni is a young man who started research work as an investigator at
the Marine Biological Laboratory, Woods Hole, Massachusetts, even before he received his …

The simplified scheme of adrenal steroidogenesis (Fig. 1) shows the series of enzymatic
steps required for the synthesis of aldosterone, cortisol, and the sex steroids. Decreased …

In 1950, Lawson Wilkins (1) showed that the elevated 17-keto-steroids in children with
congenital adrenal hyperplasia (CAH) could be dramatically reduced by suppressing the …

C ONGENITAL adrenal hyperplasia causes pseudohermaphrodism in females and
macrogenitosomia precox in males. The differentiation of these conditions from other types …

Congenital adrenal hyperplasia is a family of inborn errors of steroidogenesis, each
characterized by a specific enzyme deficiency that impairs cortisol production by the adrenal …

Congenital adrenal hyperplasia (CAH) is a family of inherited disorders of adrenal
steroidogenesis. Each of these disorders results from a deficiency in one of the several …

The study of human disease has often rendered information bearing on certain basic
mechanisms inaccessible to more direct exploration in man. In 1657 William Harvey stated …

METHOD With the exception of the long-term studies which are still in progress (vide infra)
all studies were carried out 1 Reported in part at the Proceedings of American Society for …

Our research team and laboratories have concentrated on two inherited endocrine
disorders, congenital adrenal hyperplasia (CAH) and apparent mineralocorticoid excess, in …