Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report.

ABSTRACT:

Introduction

Thyroid hormone resistance (RTH) (mim # 188570) is a rare autosomal dominant genetic disorder characterized by reduced thyroid hormone response in target tissues. The clinical manifestations of RTH vary from no symptoms to symptoms of thyroid hormone deficiency to symptoms of thyroid hormone excess.

Patient concern and clinical findings

A 24-month-old girl presented with growth retardation, tachycardia, and persistently elevated thyroid hormones despite antithyroid treatment.

Diagnosis/intervention/outcomes

The patient was diagnosed with RTH, after whole exon gene sequencing, found a de novo missense mutation (c.1375T > G,p.Phe459Val) in a novel locus of the thyroid hormone receptor beta gene. She had only mild growth retardation, so the decision was made

SUBMITTER: Feng J 

PROVIDER: S-EPMC10145980 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature