Evolving central hypothyroidism in children with optic nerve hypoplasia.

Background: Children with optic nerve hypoplasia (ONH) are at high risk for early-onset congenital central hypothyroidism (CH); however, reports of evolving, late-onset CH are rare and poorly documented.

Aim: To examine the clinical and biochemical data of children with ONH who developed CH after documented normal thyroid function tests at an earlier age.

Patients And Methods: Children who developed late-onset CH were selected for review from an observational study (n = 214) that examined clinical risk factors for endocrinological abnormalities in children with ONH.

Results: Eight patients with ONH developed CH between the ages of 20-51 months. One child at age 28 months developed CH within 4 months of prior normal thyroid function tests. There were no associations among clinical, neuroradiographical, vision, and/or pituitary outcomes.

Conclusions: Children with ONH may develop CH over time, and surveillance thyroid function tests may be necessary as frequently as every four months.