Abstract
Paediatric endocrinology is a well-established, expanding sub-speciality; therefore, paediatricians must be trained to meet the increasing requirements. The aim of this study was to present the pattern of endocrinopathy seen in a specialized clinic.
A retrospective review was conducted of cases of endocrine disorders seen between December 1989 and December 2009 at the Paediatric Endocrine Clinic, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.
Rickets was common at all ages (99 patients), the main cause being nutritional. Ambiguous genitalia were also common (81 patients); congenital adrenal hyperplasia was the predominant cause (96%) in 46 XX genetic females. Short stature was a frequent reason for referral (68 patients), with familial short stature as the commonest cause (54.4%). Obesity was diagnosed in 43 patients and was due to nutritional factors in 72% of cases. Central diabetes insipidus was found as an isolated autosomal dominant condition and also in conjunction with other hormonal deficiencies. Carbohydrate metabolic dysfunction was common in infants and children, with an increasing prevalence of type 1 diabetes mellitus. A programme to detect neonatal congenital hypothyroidism was effective in minimizing sequel; congenital hypothyroidism was diagnosed in 16 patients before the programme, and 134 cases were detected by screening. Graves disease was diagnosed in five patients and Hashimoto thyroiditis in 20 patients, associated with type 1 diabetes mellitus in six and Down syndrome in three.
The frequency and pattern of endocrine disorders indicate the need for well-trained paediatricians to improve the health of the population.