Endocrine Abstracts

Context: Familial gestational hyperthyroidism caused by mutations of TSH receptor gene, hypersensitive to hCG, is rare. Only two mutations at the same amino acid (lys183Arg, Lys183Asn) in the leucine-rich region of the extracellular N-terminal domain of the TSH receptor have been reported.Patients: A 38-year-old woman was seen during the first trimester of her second pregnancy for weight loss (5 kgs), nausea and vomiting. Thyroid function test revealed t...

Introduction: Resistance to thyroid hormone alpha (RTHα) is characterised by tissue-specific hypothyroidism associated with barely normal thyroid function tests. Clinical features include dysmorphic facies, skeletal dysplasia, growth retardation, constipation, dyspraxia and intellectual deficit. Hormonal assessment often shows decreased/low-normal free thyroxine (fT4) and increased/high-normal free triiodothyronine (fT3) concentrations, resulting in a low fT4/fT3 ratio, w...