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
Maria I. New, M.D., Zev Rosenwaks, M.D.
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.