Increased Mortality in Patients With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency (original) (raw)
2014, The Journal of Clinical Endocrinology & Metabolism
Context: Reports on mortality in patients with congenital adrenal hyperplasia (CAH) are lacking. Objective: To study mortality and causes of death in CAH. Design, Setting and Participants: We studied patients with CAH (21-hydroxylase deficiency, nϭ588; CYP21A2 mutations known, Ͼ80%), and compared them with controls (nϭ58800). Data were derived through linkage of national population-based registers. Main Outcome Measures: Mortality and causes of death. Results: The mean age of death was 41.2Ϯ26.9 years in CAH patients and 47.7Ϯ27.7 years in controls (PϽ0.001). Among CAH patients 23 (3.9%) had deceased compared to 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 or with unclear phenotype had an increased mortality. The causes of death in CAH patients 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 salt-wasting phenotype seemed to have worse outcome also in children and adults due to adrenal crisis and not only before the introduction of neonatal screening. C ongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting one of the enzymes necessary for the adrenal synthesis of cortisol. More than 95% of all CAH cases have 21-hydroxylase deficiency, characterized by decreased cortisol and aldosterone levels and simultaneously increased production of adrenal androgens and steroid precursors (1-3). Untreated the condition is lethal in severe cases due to salt crisis and hypo
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