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.

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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.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.