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Endocrinological and auxological abnormalities in young children with optic nerve hypoplasia: a prospective study
Tariq Ahmad1, Pamela Garcia-Filion, Mark Borchert
1Division of Pediatric Endocrinology, Diabetes, and Metabolism, Department of Pediatrics, USC Keck School of Medicine and Childrens Hospital Los Angeles, Los Angeles, CA 90027, USA. tahmad@chla.usc.edu
Insights
Children with optic nerve hypoplasia (ONH) frequently experience pituitary endocrinopathies, including growth hormone axis abnormalities and increased risk for elevated BMI. Some children maintain normal height despite these issues.
Area of Science:
- Pediatric Endocrinology
- Neuro-ophthalmology
- Developmental Pediatrics
Background:
- Optic nerve hypoplasia (ONH) is a congenital condition affecting vision.
- Children with ONH often present with complex hormonal and growth issues.
- Understanding the endocrine and growth profiles in ONH is crucial for early intervention.
Purpose of the Study:
- To investigate the prevalence of endocrinopathies, neuroradiographical findings, and growth derangements in young children diagnosed with ONH.
- To assess the relationship between ONH characteristics and endocrine/growth outcomes.
- To provide prospective data on the long-term endocrine and growth trajectories in this population.
Main Methods:
- A prospective observational study was conducted.
- 47 young children with ONH (mean age 15.2 months) were followed until approximately 59 months of age.
- Prevalence of endocrinopathies and growth patterns were systematically evaluated at enrollment and during follow-up.
Main Results:
- A high prevalence of endocrinopathies (71.7%) was observed, including growth hormone (GH) axis abnormalities (64.1%), hyperprolactinemia (48.5%), hypothyroidism (34.9%), and adrenal insufficiency (17.1%).
- Endocrinopathies were not significantly associated with ONH laterality or specific neuroimaging findings like absence of the septum pellucidum.
- The cohort showed a significant increase in end weight standard deviation score (SDS), with 44.4% having a body mass index (BMI) above the 85th percentile, particularly those with GH axis abnormalities.
Conclusions:
- Prospective data confirm a high prevalence of pituitary endocrinopathies in children with ONH.
- Some children exhibit normal height velocity despite GH axis abnormalities.
- Children with ONH are at significant risk for developing increased BMI, with initial hyperprolactinemia being a potential predictor.
Objective:
To determine the prevalence of endocrinopathies, neuroradiographical findings, and growth derangements in young children with optic nerve hypoplasia (ONH).
Study Design:
A 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.
Results:
The 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).
Conclusions:
These 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.
