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Article

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

Journal of pediatric endocrinology & metabolism : JPEM - 26 Mar 2026

Yang Jina, Ahn Jung Min, Jeong Hwal Rim

Abstract excerpt

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,...

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Child, Preschool
Hearing Loss, Sensorineural
Heterozygote
Mutation
Prognosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Republic of Korea

RNA-Binding Proteins

Thyroid Hormones

Source

Identifiers

PMID: 41311234
DOI: 10.1515/jpem-2025-0500

Genes

SECISBP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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