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Iezzi ML, Varriale G, Zagaroli L, et al. A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature. J Pediatr Genet. 2020;10(1):57-62doi: 10.1055/s-0040-1705110.
Iezzi, M. L., Varriale, G., Zagaroli, L., Lasorella, S., Greco, M., Iapadre, G., & Verrotti, A. (2021). A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature. Journal of pediatric genetics, 10(1), 57-62. https://doi.org/10.1055/s-0040-1705110
Iezzi, Maria Laura, et al. "A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature." Journal of pediatric genetics vol. 10,1 (2021): 57-62. doi: https://doi.org/10.1055/s-0040-1705110
Iezzi ML, Varriale G, Zagaroli L, Lasorella S, Greco M, Iapadre G, Verrotti A. A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature. J Pediatr Genet. 2021 Mar;10(1):57-62. doi: 10.1055/s-0040-1705110. Epub 2020 Mar 09. PMID: 33552641; PMCID: PMC7853915.
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J Pediatr Genet. 2021 Mar;10(1):57-62. doi: 10.1055/s-0040-1705110. Epub 2020 Mar 09.

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

Journal of pediatric genetics

Maria Laura Iezzi, Gaia Varriale, Luca Zagaroli, Stefania Lasorella, Marco Greco, Giulia Iapadre, Alberto Verrotti

Affiliations

  1. Department of Pediatrics, Ospedale Civile San Salvatore, L'Aquila, Italy.
  2. Department of Pediatrics, University of L'Aquila, L'Aquila, Italy.

PMID: 33552641 PMCID: PMC7853915 DOI: 10.1055/s-0040-1705110

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.

Thieme. All rights reserved.

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

Conflict of interest statement

Conflict of Interest None declared.

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