The spectrum of clinical paediatric endocrinology: 28 years of referrals to an individual consultant

Abstract

To review referrals throughout the career of an individual paediatric endocrinologist. A retrospective cohort study in metropolitan clinics in Queensland analysed details of all 9062 patients aged<18 years referred between January 1980 and December 2007 to determine the proportion of diagnoses in major disease categories and changes in referral patterns over time. Short stature (29%), type-1 diabetes mellitus (20%) and pubertal disorders (12%) accounted for most cases, with thyroid disorders (7%), obesity (6%), tall stature (5%) and hypothalamic-pituitary disorders (4%) the next commonest. An organic cause for short stature, early puberty, late puberty, tall stature and obesity was found in 39%, 32%, 19%, 15% and 6% of cases, respectively. Boys were more likely to present with short stature or delayed puberty, and girls with tall stature and early puberty. Substantially fewer boys than girls were diagnosed in infancy with congenital adrenal hyperplasia, suggesting that some may be dying undiagnosed. Comparisons between 1980 and 1984, and 2000-2004 revealed increases in the percentage of referrals for type-1 diabetes mellitus (particularly in the young), early puberty, hypothalamic-pituitary and bone disorders, and decreases in those for short and tall stature. Disorders of growth and puberty accounted for 52% of referrals and many have an organic cause. A neonatal screening programme for congenital adrenal hyperplasia is overdue. Changing attitudes to short and tall stature and a profound increase in new cases of diabetes mellitus indicate that substantially greater resources for treatment of childhood diabetes mellitus will be required in future.