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Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report
Jinhua Feng1, Shuangzhu Lin1, Wei Wang1
1Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, Jilin Province, China.
Insights
Thyroid hormone resistance (RTH) is a rare genetic disorder. This study details a mild RTH case in a child with a novel TR beta gene mutation, highlighting the importance of considering RTH in diagnosing abnormal thyroid hormone levels.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Thyroid hormone resistance (RTH) is a rare autosomal dominant disorder affecting thyroid hormone response in tissues.
- Clinical RTH presentations range from asymptomatic to overt signs of hormone deficiency or excess.
Observation:
- A 24-month-old girl exhibited growth retardation, tachycardia, and elevated thyroid hormones despite treatment.
- Genetic analysis revealed a de novo missense mutation (c.1375T>G, p.Phe459Val) in a novel locus of the thyroid hormone receptor beta gene.
Findings:
- The patient was diagnosed with a mild form of RTH.
- Despite continued mild growth and language delays at age 5 years 8 months, her comprehension and heart rate remained normal.
- The novel mutation identified contributes to understanding RTH pathogenesis.
Implications:
- RTH diagnosis requires considering novel gene mutations.
- This case underscores the need to include RTH in the differential diagnosis for abnormal neonatal screening thyroid hormone levels.
- Monitoring development is crucial for mild RTH cases with specific genetic mutations.
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 to monitor her development without intervention. At her last follow-up at 5 years and 8 months of age, she continued to show growth retardation (-2 standard deviation below age-appropriate levels), in addition to delayed language development. Her comprehension ability and heart rate have remained normal.
Conclusions:
We report a mild case of RTH caused by a novel thyroid hormone receptor beta gene mutation. RTH should be considered in the differential diagnosis of abnormal serum thyroxine levels during neonatal screening.
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