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Objective There is limited knowledge on the onset of comorbidities in congenital adrenal hyperplasia (CAH) during childhood. We aimed to establish the health status of children with CAH in the UK. Design and methods This cross-sectional multicentre study involved 14 tertiary endocrine UK units, recruiting 101 patients aged 8–18 years with classic 21-hydroxylase deficiency and 83 controls. We analysed demographic, clinical and metabolic data, as well as psychological questionnaires (Strengths and Difficulties (SDQ), Paediatric Quality of Life (PedsQL)). Results Patient height SDS in relation to mid-parental height decreased with age, indicating the discrepancy between height achieved and genetic potential height. Bone age was advanced in 40.5% patients, with a mean difference from the chronological age of 1.8 (±2.3) years. Patients were more frequently overweight (27%) or obese (22%) compared to controls (10.8% and 10.8%, respectively, P < 0.001). No consistent relationship between glucocorticoid dose and anthropometric measurements or hormonal biomarkers was detected. A small number of patients had raised total cholesterol (3.0%), low HDL (3.0%), raised LDL (7.0%) and triglycerides (5.0%). SDQ scores were within the ‘high’ and ‘very high’ categories of concern for 16.3% of patients. ‘School functioning’ was the lowest PedsQL scoring dimension with a median (interquartile range) of 70 (55–80), followed by ‘emotional functioning’ with a median of 75 (65–85). Conclusions Our results show an increased prevalence of problems with growth and weight gain in CAH children and suggest reduced quality of life. This highlights the urgent need to optimise management and monitoring strategies to improve long-term health outcomes.

Human growth hormone (GH), also known as somatotropin, is a 191-amino acid single-chain polypeptide. Its production begins in early fetal life and is secreted from the anterior pituitary gland in a pulsatile fashion. The GH levels vary during childhood and peak during the pubertal growth spurt. The GH pulse frequency and the amplitude is influenced by a number of factors including age, gender, sleep, nutrition, exercise, and pubertal status. The human growth hormone (GH) gene family is closely related, sharing 90%–99% nucleotide sequence similarity, and is believed to have evolved by gene duplication. The secretion of growth hormone is relatively higher during the early to midadolescence years, about 700 μg/day, approximately double the levels measured in adulthood (~400 μg/day).

We report 3 cases of cabergoline resistance in adolescents with prolactinomas. All patients failed to respond to conventional doses of cabergoline. There are few reports on the management and outcome of dopamine agonist resistance in prolactinomas in the pediatric population, and our case series highlights the need for further research.