Endocrine Abstracts

JOINT1898

Purpose: To describe the clinical phenotype, and burden of health care utilisation in children with septo-optic dysplasia (SOD).

Methods: A single-centre retrospective chart review of patients with SOD seen at a single tertiary centre between 2003 and 2023 was performed. Data were obtained from the clinical record, electronic patient administration system and medical imaging reports, with comparison to local paediatric population data reported by the Australian Bureau of Statistics. An elevated BMI was defined as >1 SDS, and obesity as >1.65. Health care utilisation was assessed by reporting the number of medical and allied health specialties involved, and annual frequency of inpatient, outpatient and emergency department presentations.

Results: Eighty-one children were enrolled (median age 11.6 years, 32 females), 62/81 with bilateral optic nerve hypoplasia. Of 71 children with pituitary and anthropometric data, 41 had hypopituitarism and 31 had an elevated BMI. 37/51 children with pituitary structural defects had hypopituitarism compared to 3/20 without (P < 0.001). Children with SOD had higher rates of elevated BMI than the general population (42.5% vs 26.2%, P = 0.001) and obesity was more prevalent in those with (33%) and without (24.1%) hormonal deficiencies than the general population (6%, P < 0.001). Children with BMI elevation had greater median height SDS scores than those with a normal BMI (0.45 vs -0.78, P = 0.001). This was seen in those with and without hypopituitarism, but not demonstrated in those with GH deficiency (P = 0.103). Children with hypopituitarism who had an elevated BMI, developed this at a younger age than those without hypopituitarism (median 2.4 years [interquartile range 2.0-5.0] vs 5.9 years [4.1-10.5], P = 0.038). 12/31 with elevated BMI and 6/19 with obesity met criteria for these at 2 years of age. Approximately two thirds (55/81) were diagnosed in infancy. The median age at diagnosis of first endocrinopathy was 0.6 years (0.2-3.8). The median number of medical and allied health specialties seen was 9, with 70/81 seeing 5 or more specialties. Children with hypopituitarism had more frequent emergency department presentation, inpatient admission, and outpatient appointments than those without pituitary dysfunction.

Main Conclusions: SOD is a complex multisystem disorder. Regarding BMI elevation, although those with hormonal deficiencies have greater prevalence and develop BMI elevation earlier, prevalence is higher in children with SOD irrespective of pituitary function. The high rates of healthcare attendance in multiple specialties support the importance of treatment in a multidisciplinary clinic to ensure comprehensive care and minimise burden on families.