Endocrine Abstracts

The differential diagnosis of raised circulating thyroid hormones with normal TSH includes familial dysalbuminaemic hyperthyroxinaemia (FDH), a benign, inherited disorder caused by a variant albumin with increased affinity for thyroxine (T4) or triiodothyronine (T3). Three different albumin gene mutations, generating mutant proteins with increased affinity for either T4 (R218H,R218P) or T3 (L66P) have been commonly described. Typically, serum total T4 is raised and free T4 mea...

Objectives: Pregnancy and early infancy are periods when increased demand for thyroid hormone can result in subclinical hypothyroidism (SH). SH is frequently a prodrome to autoimmunity, but may be a compensation mechanism for an underlying genetic defect. The W546X mutation of the thyrotropin receptor (TSHR) is present at a frequency of 1 in 180 in a Caucasian population. We aimed to investigate whether W546X was the cause of SH presenting in pregnancy and early infancy.<p...

Resistance to thyroid hormone (RTH) is a rare, autosomal dominant disorder characterised by a reduced sensitivity of peripheral tissues to thyroid hormone. Thyroid function testing shows elevation of free T4 and T3 with non suppressed TSH levels.Vascular function in these patients has not been fully evaluated. We have studied central arterial stiffness in a cohort of RTH patients, comparing them with age and sex matched controls.Me...