Prenatal Diagnosis of Congenital Adrenal Hyperplasia

Mabel Yau; Ahmed Khattab; Maria I New

doi:10.1016/j.ecl.2016.01.001

Prenatal Diagnosis of Congenital Adrenal Hyperplasia

Endocrinol Metab Clin North Am. 2016 Jun;45(2):267-81. doi: 10.1016/j.ecl.2016.01.001. Epub 2016 Mar 31.

Authors

Mabel Yau¹, Ahmed Khattab¹, Maria I New²

Affiliations

¹ Department of Pediatric Endocrinology, Icahn School of Medicine at Mount Sinai, One Gustave Levy Place, Box 1198, New York, NY 10029, USA.
² Department of Pediatrics, Icahn School of Medicine at Mount Sinai, One Gustave Levy Place, Box 1198, New York, NY 10029, USA. Electronic address: maria.new@mssm.edu.

PMID: 27241964
DOI: 10.1016/j.ecl.2016.01.001

Abstract

Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females.

Keywords: 21-Hydroxylase deficiency; Amniocentesis; Congenital adrenal hyperplasia; Fetal sex determination.

Publication types

Review

MeSH terms

Adrenal Hyperplasia, Congenital / diagnosis*
Dexamethasone / therapeutic use
Disorders of Sex Development / prevention & control
Female
Humans
Male
Pregnancy
Prenatal Diagnosis*

Substances

Dexamethasone

Supplementary concepts

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency