Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology and Child Health
Reference33 articles.
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2. Etiology of primary adrenal insufficiency in children: a 29-year single-center experience;Wijaya;J Pediatr Endocrinol Metab.,2019
3. Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene;Raisingani;J Pediatr Endocrinol Metab.,2016
4. A missense mutation at Ile172—Asn or Arg356—Trp causes steroid 21-hydroxylase deficiency;Chiou;J Biol Chem.,1990
5. Gonadotropin- and adrenocorticotropic hormone independent precocious puberty of gonadal origin in a patient with adrenal hypoplasia congenita due to DAX1 gene mutation – a case report and review of the literature: implications for the pathomechanism;Nagel;Horm Res Paediatr.,2019
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1. Steroidogenesis of Corticosteroids, Genetic Mutation, and Endocrine Disruption Leading to Adrenal Insufficiency;Cortisol - Between Physiology and Pathology [Working Title];2023-11-13
2. A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate;Molecular Syndromology;2023-10-02
3. Cortisol deficiency;Steroids in the Laboratory and Clinical Practice;2023
4. Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency;Frontiers in Pediatrics;2021-11-11
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