Biochemical and genetic diagnosis of 21-hydroxylase deficiency

Endocrine
Henrik FalhammarAnna Nordenström

Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene and is often fatal in its classic forms if not treated with glucocorticoids. In contrast, non-classic CAH (NCCAH), with a prevalence from 0.1 % up to a few percentages in certain ethnic groups, only results in mild partial cortisol insufficiency and patients survive without treatment. Most NCCAH cases are never identified, but unnecessary suffering due to hyperandrogenism, especially in females, can be avoided by a correct diagnosis. A 17-hydroprogesterone (17OHP) level above 300 nmol/L indicates classic CAH while 30-300 nmol/L in adult males or females (follicular phase or if anovulatoric) indicates NCCAH. The gold standard for diagnosing NCCAH is the ACTH stimulation test. Deletion, large gene conversions, and nine microconversion-derived mutations are the most common CYP21A2 mutations. However, almost 200 rare mutations have been described. Since there is a good genotype-phenotype relationship, genotyping provides valuable diagnostic, as well as prognostic information. Neonatal screening for CAH is now performed in an increasing number of countries with the main goal of reducing mortality and morbidity due to salt...Continue Reading

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Citations

Jan 2, 2016·Journal of Tropical Pediatrics·Thomas HoehnSaysanasongkham Bounnack
Feb 27, 2016·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Henrik Falhammar, David J Torpy
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Jan 14, 2020·The Journal of Clinical Endocrinology and Metabolism·Valeria MessinaSvetlana Lajic
Jun 12, 2020·The Journal of Clinical Endocrinology and Metabolism·Michael R LasarevPatrice K Held
Jun 13, 2019·Journal of the Endocrine Society·Emma Whittle, Henrik Falhammar
Aug 9, 2019·The Journal of Clinical Endocrinology and Metabolism·Anna NordenströmHenrik Falhammar
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Jan 21, 2021·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Ingrid Nermoen, Henrik Falhammar
Feb 20, 2021·Clinical Endocrinology·Mirjana KocovaHenrik Falhammar
Feb 20, 2021·Molecular Genetics and Metabolism Reports·Andrés Umaña-CalderónFred Cavallo-Aita
Nov 27, 2020·International Journal of Neonatal Screening·Patrice K HeldNatasha L Heather
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Mar 21, 2021·Current Opinion in Endocrinology, Diabetes, and Obesity·Anna NordenströmHenrik Falhammar
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Oct 4, 2021·The Journal of Clinical Endocrinology and Metabolism·Henrik FalhammarAnna Nordenström

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