Introduction: Contemporary perspectives on congenital adrenal hyperplasia: impacts on reproduction

Maria I. New, Zev Rosenwaks

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish
Pages (from-to)4-6
Number of pages3
JournalFertility and Sterility
Issue number1
StatePublished - Jan 2019


  • 21-hydroxylase deficiency
  • Congenital adrenal hyperplasia
  • reproductive disorders
  • steroidogenesis


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