Endocrine Abstracts

A 42-year-old man with resistance to thyroid hormone (RTH) and a recognised thyroid hormone receptorβ mutation (R383C) mutation, presented with atrial fibrillation (AF) which was resistant to DC cardioversion until initiation of amiodarone therapy.As expected in RTH, his baseline TFTs were abnormal (FT4 34.6 pmol/l, TSH 2.27 mU/l), but rose further (FT4 45 pmol/l, TSH 0.93 mU/l) following commencement of amiodarone. However, sh...

Corepressors and coactivators mediate thyroid hormone receptor-dependent repression and transactivation of positively-regulated target genes respectively, but their role in negative regulation is not understood.A 4 years old boy was born at 31 weeks. He was jittery at birth, with neonatal respiratory distress. Childhood features included poor weight gain, heat intolerance, tachycardia and hyperactivity. Ongoing problems are low frequency hearing loss, po...

Corepressors and coactivators of thyroid hormone receptor-mediated function facilitate repression and transactivation of positively-regulated target genes respectively, but their role in negative regulation is not understood. A 13 yr old boy, born at 31 weeks gestation, was jittery at birth, with neonatal respiratory distress. Childhood features included poor weight gain, heat intolerance, tachycardia and hyperactivity. Ongoing problems are low frequency hearing loss, poor sig...

Global encephalopathy is a rare complication of Hashimoto’s thyroiditis. It typically presents with seizures, ataxia and tremors and responds to steroid therapy. Limbic encephalitis (LE) is even less well described in paediatric population. It presents with medio-temporal lobe symptoms (memory impairment, temporal lobe seizures and disturbances of affect) caused by inflammation within the hippocampus, amygdala, hypothalamus, insular and cingulate cortex. LE most commonly ...

Metyrapone (MT) is used in the medical management of Cushing’s syndrome as it decreases serum cortisol (CT) levels by inhibiting adrenal β-hydroxylation of 11-deoxycortisol, the final step in CT synthesis. CT precursors, in particular 11-deoxycortisol (DOC), increase following MT therapy. Monitoring glucocorticoid replacement in patients taking MT could therefore be confounded as DOC cross-reacts in commonly used immunoassays (IA) for serum CT. Serum CT results from ...

We report five cases of hyperthyroidism with complex management issues, which were successfully treated with iopanoic acid prior to thyroidectomy.Three patients (cases 1–3) had Graves’ disease; two developed agranulocytosis on carbimazole and one had uncontrolled severe thyrotoxicosis and poor compliance with treatment. Radioiodine was either declined or contraindicated due to radio-protection issues. All patients were rendered euthyroid with i...

A 67-year-old lady presented with hypoglycaemic coma, treated with dextrose infusion. Previously she had a 3-month history of weight gain with increasingly frequent episodes of shaking and blurred vision, particularly at night, relieved by food.A 72-hour fast was undertaken. Within 2 h, she became confused. Serum glucose was 1.1 mmol/l with serum insulin 527 pmol/l (0–60 pmol/l), proinsulin 320 pmol/l (0–7 pmol/l) and C-peptide 2991 pmol/l (174...

TSH secreting tumours (TSH-omas) are uncommon, accounting for less than 2% of pituitary tumours. Typically, patients with such tumours demonstrate hyperthyroidism with detectable or elevated TSH levels, and show little response to TRH stimulation. Treatment is controversial: typically surgery, radiotherapy or somatostatin analogues.We present a 22 year-old man who was found to be tachycardic on joining a gym in 2003. There were no other symptoms or signs...

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...

TRAB antibody is specific for diagnosis of Grave’s disease. We have conducted an audit to on our practice on parameters which TRAB could influence.Method: TRAB (NR 0–1 IU/l) positive patients were identified from biochemistry laboratory form April 2003 to February 2004. Sixty case notes were randomly selected for reviewed. Data were analysed subsequently.Result: 46 cases (77%) were female. Mean age was 42, range 6 to 78 y...