title: Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
abstract: BACKGROUND
  Reports on mortality in patients with congenital adrenal hyperplasia (CAH) are lacking.
  
  
  OBJECTIVE
  This study sought to study mortality and causes of death in CAH.
  
  
  METHODS
  We studied patients with CAH (21-hydroxylase deficiency, n = 588; CYP21A2 mutations known, >80%), and compared them with controls (n = 58 800). Data were derived through linkage of national population-based registers.
  
  
  METHODS
  Mortality and causes of death.
  
  
  RESULTS
  Mean age of death was 41.2 ± 26.9 years in patients with CAH and 47.7 ± 27.7 years in controls (P < .001). Among patients with CAH, 23 (3.9%) had deceased compared with 942 (1.6%) of controls. The hazard ratio (and 95% confidence interval) of death was 2.3 (1.2-4.3) in CAH males and 3.5 (2.0-6.0) in CAH females. Including only patients born 1952-2009, gave similar total results but only patients with salt wasting (SW) or with unclear phenotype had an increased mortality. The causes of death in patients with CAH were adrenal crisis (42%), cardiovascular (32%), cancer (16%), and suicide (10%). There were seven additional deaths in CAH individuals with incomplete or reused personal identification number that could not be analyzed using linkage of registers. Of the latter, all except one were deceased before the introduction of neonatal screening in 1986, and most of them in the first weeks of life, probably in an adrenal crisis.
  
  
  CONCLUSIONS
  CAH is a potentially lethal condition and was associated with excess mortality due to adrenal crisis. The SW phenotype also seemed to have worse outcome in children and adults due to adrenal crisis and not only before the introduction of neonatal screening.
authors.affiliation: Department of Endocrinology, Metabolism and Diabetes (H.F.), Department of Obstetrics and Gynecology (A.L.H.), Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery (H.F.), Department of Clinical Neuroscience (L.F.), Department of Medical Epidemiology and Biostatistics (C.N., C.A.), Department of Women's and Children's Health (A.L.H., Ag.N., An.N.), Karolinska Institutet, 171 76 Stockholm, Sweden; Child and Adolescent Psychiatry Research Center (L.F.), Stockholm, SE-11330, Sweden; and Lung and Allergy Unit, (C.A.), Department of Paediatric Surgery (Ag.N), Department of Paediatric Endocrinology (An.N.), Astrid Lindgren Children's Hospital, Karolinska Institutet, 171 76 Solna, Sweden.
authors.forename: Henrik
authors.initials: H
authors.lastname: Falhammar
authors.forename: Louise
authors.initials: L
authors.lastname: Frisén
authors.forename: Christina
authors.initials: C
authors.lastname: Norrby
authors.forename: Angelica Lindén
authors.initials: AL
authors.lastname: Hirschberg
authors.forename: Catarina
authors.initials: C
authors.lastname: Almqvist
authors.forename: Agneta
authors.initials: A
authors.lastname: Nordenskjöld
authors.forename: Anna
authors.initials: A
authors.lastname: Nordenström
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000401:mortality*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D012042:Registries; D016019:Survival Analysis; D013548:Sweden / Q000453:epidemiology; D055815:Young Adult