Endocrine Abstracts

Congenital adrenal hyperplasia represents a group of autosomal recessive disorders in steroidogenesis causing deficient cortisol biosynthesis. The incidence of congenital adrenal hyperplasia in the general population of western countries is ~1 in 10 000 to 1 in 15 000 life births with about 95% of cases caused by 21-hydroxylase deficiency. Several novel forms have been discovered in recent years involving all steps in steroidogenesis. The existence of milder or non-classic sub-forms of CAH clinically presenting with atypical pattern and/ or late-onset of disease is now well established. Some forms affect only adrenal steroid hormone biosynthesis (21-hydroxylase deficiency, 11β-hydroxylase deficiency), whereas others lead to combined impairment of adrenal and gonadal steroidogenesis (deficiencies of steroidogenic acute regulatory protein, P450 side-chain cleavage enzyme, 3β-hydroxysteroid dehydrogenase type 2, 17α-hydroxylase, and P450 oxidoreductase). All conditions have a specific steroid hormone fingerprint with pathognomonic plasma hormone and urinary steroid hormone profiles. Establishing the differential diagnosis is essential, as different forms of CAH require different approaches to steroid hormone replacement. During different life spans type and dose of glucocorticoid can change. The relative mineralocorticoid dose per body surface area declines with increasing age. Replacement doses are monitored by clinical and biochemical parameters, with suppression of steroid hormones commonly indicating overtreatment. CAH has become an inborn condition affecting patients who are now well in their fifties. Comprehensive long-term data on mortality are not available. Pharmacotherapy with current approaches is challenging, with keeping the balance between glucocorticoid overexposure and androgen excess. The caring physician has to be aware on co-morbidities involving cardiovascular disease, metabolic complications, fertility problems, psychosexual and psychologic health. Patients are ideally looked after by a multi-disciplinary team. An important emerging task for paediatric health care provision in CAH is primary and secondary prevention of long-term health problems.