Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Mar;10(1):57-62.
doi: 10.1055/s-0040-1705110. Epub 2020 Mar 9.

A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

Maria Laura Iezzi  1 , Gaia Varriale  2 , Luca Zagaroli  2 , Stefania Lasorella  2 , Marco Greco  2 , Giulia Iapadre  2 , Alberto Verrotti  2
Affiliations
Case Reports

A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

Maria Laura Iezzi et al. J Pediatr Genet. 2021 Mar.

Abstract

Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype-phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH.

Keywords: CYP21A2 mutation; Q318X; R356W; R369Q; homozygous; salt-wasting CAH.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest None declared.

References

    1. Merke D P, Bornstein S R.Congenital adrenal hyperplasia Lancet 2005365(9477):2125–2136. - PubMed
    1. Pang S, Clark A, Neto E C.Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder Screening 19932(2–3):105–139.
    1. Grumbach M M, Shaw E B.Further studies on the treatment of congenital adrenal hyperplasia with cortisone: IV. Effect of cortisone and compound B in infants with disturbed electrolyte metabolism, by John F. Crigler Jr, MD, Samuel H. Silverman, MD, and Lawson Wilkins, MD, Pediatrics, 1952;10:397-413 Pediatrics 1998102(1 Pt 2):215–221. - PubMed
    1. Therrell B L. Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2001;30(01):15–30. - PubMed
    1. Oelkers W K. Effects of estrogens and progestogens on the renin-aldosterone system and blood pressure. Steroids. 1996;61(04):166–171. - PubMed

Publication types