Assessing the risk of having a child with classic 21-hydroxylase deficiency: a new paradigm

Jacob Ilany*, Ohad Cohen

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a complicated condition genetically, clinically, and treatment wise. Genetically, there are numerus mutations with different effect on enzyme activity that make genetic diagnosis a challenge. Clinically, there are a wide range of presentations from asymptomatic patients to the severe life-threatening classic CAH. Both an asymptomatic heterozygote and a mildly affected non-classical patient can carry a ‘severe’ mutation and endow it to their offspring. We present a case of non-classic CAH and discuss the problematic relations between biochemical and genetic diagnosis. By integrating the seemingly contradicting literature, we provide a new simple tool to assess the risk of such patients to give birth to a child with classic CAH.

Original languageEnglish
Pages (from-to)423-432
Number of pages10
JournalTrends in Endocrinology and Metabolism
Volume32
Issue number7
DOIs
StatePublished - Jul 2021

Keywords

  • 21-hydroxylase
  • congenital adrenal hyperplasia
  • genetics

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