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http://purl.uniprot.org/citations/31393570http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
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Context

Congenital adrenal hyperplasia (CAH) is a common monogenic recessive disorder. It has been suggested that CYP21A2 deficiency is common because carriers may have a survival advantage, 1 in 15,000 in most populations. Carriers of CYP21A2 mutations typically do not have clinical symptoms but have a defined phenotype with a more prompt cortisol response to ACTH.

Objective

We investigated whether the mortality was lower, and determined the cause of death in carriers and population controls.

Design

A total of 1143 obligate carriers of a CYP21A2 mutation (561 men) were identified from the Swedish National CAH Registry, encompassing >700 patients and the Multi-Generation Registry to identify their parents. The mortality and cause of death were identified through the Swedish Cause of Death Registry. The hazard ratios (HRs) and 95% CIs were calculated. The results were compared with controls from the general population, matched for sex and age.

Results

The overall mortality was lower in carriers of a CYP21A2 mutation compared with the controls (HR 0.79; 95% CI, 0.678 to 0.917; P = 0.002). The difference was more marked among carriers of a more severe mutation. Infection as the cause of death was significantly lower (HR 0.65; 95% CI, 0.48 to 0.87; P < 0.01), particularly for death in pneumonia (HR 0.22; 95% CI, 0.06 to 0.88; P = 0.03). The lower overall mortality among women compared with men in the general population was confirmed among both carriers and controls.

Conclusion

Obligate CYP21A2 carriers of a classic mutation had a reduced mortality. Specifically, a possible reduced mortality due to pneumonia was seen."xsd:string
http://purl.uniprot.org/citations/31393570http://purl.org/dc/terms/identifier"doi:10.1210/jc.2019-01199"xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/author"Svensson J."xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/author"Lajic S."xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/author"Nordenskjold A."xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/author"Frisen L."xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/author"Nordenstrom A."xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/author"Falhammar H."xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/author"Almqvist C."xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/author"Norrby C."xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/date"2019"xsd:gYear
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/name"J Clin Endocrinol Metab"xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/pages"6148-6154"xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/title"Carriers of a Classic CYP21A2 Mutation Have Reduced Mortality: A Population-Based National Cohort Study."xsd:string
http://purl.uniprot.org/citations/31393570http://purl.uniprot.org/core/volume"104"xsd:string
http://purl.uniprot.org/citations/31393570http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/31393570
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