Endocrine Abstracts

Congenital adrenal hyperplasia represents a group of autosomal recessive disorders in steroidogenesis causing deficient cortisol biosynthesis. Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to being recognized as a lifelong, chronic condition affecting patients of all age groups. Increasing evidence suggests that patients with CAH have an increased risk to develop health problems during adult life, with signs and symptoms of forerunner conditions of adult disease already emerging during the time of paediatric care. Recent data from a prospective cross-sectional study of adults with CAH attending specialized endocrine centres across the United Kingdom suggested an impaired health status of adults with CAH. Glucocorticoid replacement was generally nonphysiological, and androgen levels were poorly controlled. As reported in other outcome studies CAH patients were significantly shorter and had a higher body mass index. Blood pressure was not grossly altered. Only women with classic CAH had increased diastolic blood pressure. However metabolic abnormalities were common, including obesity (41%), hypercholesterolaemia (46%), insulin resistance (29%), osteopaenia (40%), and osteoporosis (7%). Overall fertility was compromised and subjective health status was significantly impaired. A very good genotype-phenotype correlation is well established in early life. However, the severity of genetic alteration did not correlate with the outcome in adult CAH patients. Currently, a minority of adult United Kingdom CAH patients appear to be under endocrine specialist care. Improvements in the clinical management of adults with CAH are required. Comprehensive data on the general health status during childhood and adolescence do not exists. These are warranted to identify the onset of co-morbidities and develop paediatric preventive health care provision strategies in CAH to improve primary and secondary prevention of long-term health problems.