Work

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

Year: 2025

Type: article

Abstract: 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.

Source: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2025-0500

Authors: Jina Yang, Jung Min Ahn, Hwal Rim Jeong

Institutions: Soonchunhyang University, Soonchunhyang University Hospital Cheonan, Jeju National University

Language: English

Topic: Thyroid Disorders and Treatments

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $2,712