HYPERTHYROIDISM

NON-AUTOIMMUNE HYPERTHYROIDISM AND CONGENITAL HYPOTHYROIDISM

TSHR GENE ANALYSIS

Congenital hypothyroidism (CH) is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment if untreated.  Loss-of-function variants in the TSHR gene cause Thyroid Stimulating Hormone (TSH) resistance, characterised by elevated TSH levels and decreased or normal thyroid hormone (T3 and T4) levels.  Disease-causing variants are located throughout the TSHR gene (Persani et al 2010 Mol Cell Endocrinol 322:72-82).

Germline gain-of-function variants in the TSHR gene are associated with autosomal dominant non-autoimmune hyperthyroidism, characterised by low TSH levels and elevated thyroid hormone (T3 and T4) levels.  Approximately 95% of cases have a disease-causing variant in exon 10 of the TSHR gene (Hebrant et al 2010 Eur J Endocrinol 164:1-9).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.

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