Introduction: Contemporary perspectives on congenital adrenal hyperplasia: impacts on reproduction
In this Views and Reviews, we present four perspectives on current diagnostic approaches and treatments for congenital adrenal hyperplasia.
Volume 111, Issue 1, Pages 4–6
Authors:
Maria I. New, M.D., Zev Rosenwaks, M.D.
Abstract:
Congenital adrenal hyperplasia, an endocrine autosomal recessive disorder caused by several deficiencies of enzymes and/or proteins involved in adrenal cortisol biosynthesis, is often associated with reproductive dysfunction. While the most common disorder is due to 21-hydroxylase deficiency, several other enzymes in the steroidogenesis pathway have been described, all of which can result in a range of reproductive disorders in both males and females. Although for many enzymes the phenotypic presentation is associated with a particular genotype, the severity of disease cannot always be predicted.
