Adrenal crises in 21-OHD patients

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal, recessive metabolic disorder resulting in a lack of cortisol, an excess of adrenal androgens, and additionally diminished aldosterone secretion in the salt-wasting (SW) form. The unrecognised and thus untreated disease may lead to life-threatening SW crisis in the newborn period. Neonatal screening for classical 21-OHD, which is now routinely performed in most western countries, has significantly reduced the number of SW crises in neonates and thereby mortality rates during infancy. However, patients with classical CAH are at risk of life-threatening adrenal crisis (AC) during their entire life.

To gather further evidence on the clinical features of AC in CAH, as well as age-dependent risk factors for AC, Reisch et al. performed a cross-sectional study with detailed retrospective assessment of AC incidence in a cohort of 122 patients using a questionnaire and in 67 patients by investigation of patient charts.

Their data show that AC is a clinically relevant problem in classical 21-OHD throughout lifetime and particularly during infancy and childhood. Underlying causes of AC are mainly infectious diseases with age-specific patterns. The study also shows that raising awareness for the risk of AC and providing education on early prevention strategies of AC not only among patients and their relatives but also among primary care physicians could contribute to further reduction in the frequency of AC and associated hospital admissions. Reisch et al. (2012) European Journal of Endocrinology 167 35-42.

Read full article at DOI: 10.1530/EJE-12-0161