Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

2020/09/23 by Deborah P. Merke, Richard J. Auchus · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Sexual Differentiation and Disorders #Hormonal and reproductive studies #Urological Disorders and Treatments

paper · doi:10.1056/nejmra1909786

openalex publication_date 2020/09/23 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/04

Abstract

Congenital adrenal hyperplasia, a common autosomal recessive disorder, is potentially life-threatening in its classic form and may be asymptomatic or cause female infertility in its nonclassic form. This review focuses on CAH due to 21-hydroxylase deficiency.

Citations

• Results of Screening 1.9 Million Texas Newborns for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
• The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
• Effect of Newborn Screening for Congenital Adrenal Hyperplasia
• High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency
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• Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency
• 11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency
• Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians
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Cited by

• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency [wikipedia]