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BACKGROUND/AIMS:The risk factors for pituitary hormone dysfunction (PHD) in children with optic nerve hypoplasia (ONH) are not well understood. This study identified the type, timing, and predictors of PHD in children with ONH. METHODS:ONH patient charts were reviewed retrospectively. The incidence rate of PHD was calculated assuming a Poisson distribution. Predictors of PHD were identified through a multivariable Cox proportional hazards model. RESULTS:Among 144 subjects with ONH, 49.3% (n = 71) developed PHD over 614.7 person-years of follow-up. The incidence was 11.55 (95% confidence interval [CI]: 9.02-14.57/100 person-years). The median time to first PHD was 2.88 (interquartile range: 0.02-18.72) months. Eighty-two percent developed their first PHD by their 5th and 90% by their 10th birthday, and 89% within 5 years of ONH diagnosis. Prematurity (adjusted hazard ratio [aHR]: 0.33; 95% CI: 0.1-1.07), blindness (aHR: 1.72; 95% CI: 1.03-2.86), maternal substance abuse (aHR: 1.51; 95% CI: 0.91-2.48), abnormal posterior pituitary (aHR: 3.8; 95% CI: 2.01-7.18), and hypoplastic/absent anterior pituitary (aHR: 2.52; 95% CI: 1.29-4.91) were significant predictors of PHD. CONCLUSIONS:The clinical predictors of PHD included blindness, pituitary gland abnormalities, and maternal substance abuse. These predictors help clinical decision-making related to the need for and frequency of hormone testing in pediatric patients with ONH.

Original publication




Journal article


Hormone research in paediatrics

Publication Date





22 - 30


Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.


Humans, Pituitary Diseases, Optic Nerve Diseases, Follow-Up Studies, Child, Child, Preschool, Infant, Female, Male