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hrp0092p1-286 | Thyroid (1) | ESPE2019

Identification of a THRA Mutation in a 2yr Old Child with Clinical Features of Hypothyroidism and Multisystem Involvement

Sakremath Rajesh , Moran Carla , Lyons Greta , Boelaert Kristien , Chatterjee Krishna , Mohamed Zainaba , Rajanayagam Odelia

Background: Thyroid hormones act via receptors (TRα; TRβ) encoded by separate genes (THRA, THRB). Mutations in THRA are a recently-recognised cause of Resistance to Thyroid Hormone alpha (RTHα), a disorder with tissue-specific hypothyroidism but near-normal thyroid function tests.Aim: We describe the youngest recorded case of RTHa, in a 2yr old boy with disproportionate short stature, ...

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hrp0092p1-426 | Thyroid (2) | ESPE2019

A Rare Case of Familial Heterozygous Thyroid Hormone Receptor Beta (THRB) Mutation Presenting with Dilated Cardiomyopathy

Hastings Lucy , Saraff Vrinda , Chikermane Ashish , Boelaert Kristien , Lyons Greta , Moran Carla , Mohamed Zainaba

Background: Resistance to thyroid hormone beta (THRβ) is a clinical spectrum which varies in presentation even between individuals with the same mutation. Life-threatening cardiac dysfunction is recognized in homozygous THRβ state but never reported in cases of inherited heterozygous THRβ defects.Aim: We report the first case of familial inherited heterozygous (THRB) beta mutation presenting with ...

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ESPE Abstracts

Identification of a THRA Mutation in a 2yr Old Child with Clinical Features of Hypothyroidism and Multisystem Involvement

A Rare Case of Familial Heterozygous Thyroid Hormone Receptor Beta (THRB) Mutation Presenting with Dilated Cardiomyopathy

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