Thyroid hormone metabolism defect due to compound heterozygous SECISBP2 mutations: first reported case in Korea

초록

Objectives To present the first Korean case of thyroid hormone metabolism defect (THMD) caused by compound heterozygous SECISBP2 mutations and to expand our current understanding of its clinical spectrum.Case Presentation A 3-year-old girl presented with short stature, global developmental delay, bilateral semiptosis, and congenital sensorineural hearing loss. Thyroid function tests revealed decreased T3, elevated free T4, and normal TSH. Genetic analysis identified compound heterozygous nonsense variants in SECISBP2: a previously reported p.Arg120Ter and a novel p.Arg672Ter. Treatment with liothyronine normalized thyroid function, but developmental and speech delays persisted.Conclusions This case broadens the mutational spectrum of SECISBP2-related THMD and demonstrates its multisystemic nature, including auditory and possible ocular involvement. Despite biochemical improvement, neurodevelopmental outcomes remained poor, emphasizing tissue-specific T3 deficiency and the limited efficacy of current therapy. Early recognition and molecular diagnosis are crucial for timely management and long-term follow-up.

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