Skip to content

Advertisement

  • Oral presentation
  • Open Access

Diagnosis and management of rare forms of CAH

  • 1
International Journal of Pediatric Endocrinology20152015 (Suppl 1) :O6

https://doi.org/10.1186/1687-9856-2015-S1-O6

  • Published:

Keywords

  • Cortisol
  • Glucocorticoid
  • Congenital Adrenal Hyperplasia
  • Phenotypic Correlate
  • Autosomal Recessive Disorder

Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that are involved in cortisol synthesis [1]. More than 90% of cases are caused by a defect in the enzyme 21-hydroxylase. Four other enzyme deficiencies (P450scc, P450c17, P450c11β, 3βHSD) in the steroid biosynthesis pathway [24], along with one cholesterol transport protein defect (StAR) [5], and one electron-transfer protein (P450 oxidoreductase) [6] account for the remaining cases. In these rare forms of CAH, so-called “atypical CAH”, the clinical and hormonal phenotypes can be complicated, and are not well characterized. The clinical symptoms of the different forms of CAH result from the particular hormones that are deficient and those that are produced in excess. A characteristic feature of CAH is genital ambiguity or disordered sex development (DSD), and most variants are associated with glucocorticoid deficiency. This talk will focus on the diagnosis and management of the variant forms of CAH other than 21-hydroxylase so-called “atypical CAH”, including the genetic analyses, and phenotypic correlates.

Authors’ Affiliations

(1)
Chulalongkorn University, Bangkok, Thailand

References

  1. Miller WL, Auchus RJ: The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev. 2011, 32 (1): 81-151. 10.1210/er.2010-0013.PubMed CentralView ArticlePubMedGoogle Scholar
  2. Sahakitrungruang T, Tee MK, Speiser PW, Miller WL: Novel P450c17 mutation H373D causing combined 17α-hydroxylase/17,20 lyase deficiency. J Clin Endocrinol Metab. 2009, 94 (8): 3089-3092. 10.1210/jc.2009-0645.View ArticlePubMedGoogle Scholar
  3. Sahakitrungruang T, Tee MK, Blackett PR, Miller WL: Partial defect in the cholesterol side-chain cleavage enzyme, P450scc (CYP11A1) resembling non-classic congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab. 2011, 96 (3): 792-798. 10.1210/jc.2010-1828.PubMed CentralView ArticlePubMedGoogle Scholar
  4. Jeandron DD, Sahakitrungruang T: A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: An unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency. Horm Res Paediatr. 2012, 77 (5): 334-338. 10.1159/000336004.View ArticlePubMedGoogle Scholar
  5. Sahakitrungruang T, Soccio RE, Lang-Muritano M, Walker JM, Achermann JC, Miller WL: Clinical, genetic and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR). J Clin Endocrinol Metab. 2010, 95 (7): 3352-3359. 10.1210/jc.2010-0437.PubMed CentralView ArticlePubMedGoogle Scholar
  6. Sahakitrungruang T, Huang N, Tee MK, Agrawal V, Russell WE, Crock P, et al: Clinical, genetic and enzymatic characterization of P450 oxidoreductase deficiency in four patients. J Clin Endocrinol Metab. 2009, 94 (12): 4992-5000. 10.1210/jc.2009-1460.PubMed CentralView ArticlePubMedGoogle Scholar

Copyright

© Sahakitrungruang; licensee BioMed Central Ltd. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Advertisement