Background: Optic nerve hypoplasia (ONH) is a congenital condition with high morbidity. Many children with ONH will develop pituitary hormone dysfunction (PHD), but it is unknown if, or when, this will occur.
Objective and hypotheses: Our primary objective was to identify the type, timing and predictors of PHD in children with ONH to help guide the necessity and frequency for pituitary hormone testing.
Method: A retrospective chart review was conducted; demographic, prenatal, neurobehavioural, radiologic, hormonal and ophthalmologic data were collected. Descriptive statistics were utilized (i.e. means, medians, proportions, Chi-Squared) and multiple regression modeling identified clinical predictors for PHD.
Results: 254 pediatric patients with ONH were seen at the BC Childrens Hospital endocrinology clinic between 19752014. Of these, 146 met eligibility criteria, of which 71 (49%) had PHD. Thyroid stimulating hormone (76%) and growth hormone (72%) deficiency were most common. The median age at diagnosis of the first PHD and median time from diagnosis of ONH to first PHD was 0.8 years (IQR 2.9) and 0.3 years (IQR 1.7), respectively. Among ONH patients with PHD, 80% developed their first PHD by 5 years of age and 90% by 5 years after diagnosis of ONH. On multivariate regression analysis, bilateral ONH (odds ratio (OR) 2.8 (95% CI:1.07.8) P=0.04)), posterior pituitary abnormalities (OR: 18.4 (95% CI: 3.498.6); P=0.001), and blindness (OR: 3.5 (95% CI: 1.210); P=0.02) were risk factors for developing PHD. Prematurity was protective (OR: 0.1 (95% CI: 0.00.7); P=0.02).
Conclusion: We described the largest cohort of patients with ONH in Canada and report the first regression model that identifies predictors for developing PHD in patients with ONH. Prematurity was protective, a novel finding that requires more research. Next steps are to further develop our prediction model by validating these findings against a larger cohort of patients with ONH.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology