Endocrinological and Auxological Abnormalities in Young Children with Optic Nerve Hypoplasia: A Prospective Study

ObjectiveTo determine the prevalence of endocrinopathies, neuroradiographical findings, and growth derangements in young children with optic nerve hypoplasia (ONH).Study designA prospective observational study examined the prevalence of endocrinopathies at study enrollment and growth patterns in children with ONH. Subjects (n = 47, mean ± SD 15.2 ± 10.6 months) were followed until 59.0 ± 6.2 months of age.ResultsThe prevalence of endocrinopathies was 71.7%: 64.1% of subjects had growth hormone (GH) axis abnormalities, 48.5% hyperprolactinemia, 34.9% hypothyroidism, 17.1% adrenal insufficiency, and 4.3% diabetes insipidus (DI). Endocrinopathies were not associated with ONH laterality, absence of the septum pellucidum, or pituitary abnormalities on neuroimaging. End height standard deviation score (SDS) was similar to start length SDS independent of GH surrogate status. A significant increase in end weight SDS was found for the cohort (p < .001). A body mass index (BMI) >85th percentile was noted in 44.4% of the cohort and in 52.1% of subjects with GH axis abnormalities. Initial hyperprolactinemia was positively associated with increased end BMI SDS (p = .004).ConclusionsThese prospective findings confirm the high prevalence of pituitary endocrinopathies in children with ONH reported in previous retrospective studies. Our data reveal that some of these children maintain normal height velocity despite GH axis abnormalities, and, as a group, they are at high risk for increased BMI.