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Evolving central hypothyroidism in children with optic nerve hypoplasia
Nina S Ma1, Cassandra Fink, Mitchell E Geffner
1Division of Endocrinology, Diabetes, and Metabolism, Department of Pediatrics, Childrens Hospital Los Angeles and Keck School of Medicine of the University of Southern California, USA. nina.ma@childrens.harvard.edu
Summary
Children with optic nerve hypoplasia (ONH) may develop late-onset central hypothyroidism (CH) over time. Regular thyroid function tests, potentially every four months, are recommended for monitoring these children.
Area of Science:
- Pediatric Endocrinology
- Neuro-ophthalmology
Background:
- Optic nerve hypoplasia (ONH) is associated with a high risk of early-onset congenital central hypothyroidism (CH).
- Late-onset CH in children with ONH is infrequently reported and poorly understood.
Purpose of the Study:
- To investigate the clinical and biochemical profiles of children with ONH who developed CH after initial normal thyroid function.
- To document the incidence and timing of late-onset CH in this pediatric population.
Main Methods:
- Retrospective review of patients from an observational study of 214 children with ONH.
- Analysis of clinical and biochemical data for children diagnosed with late-onset CH.
Main Results:
- Eight patients with ONH developed CH between 20 and 51 months of age.
- One case showed CH onset within four months of normal thyroid function tests.
- No significant associations were found between CH and clinical, neuroradiographical, vision, or pituitary outcomes.
Conclusions:
- Children with ONH can develop CH progressively over time.
- Frequent surveillance thyroid function tests, possibly every four months, are crucial for early detection of CH in ONH patients.
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