Endocrine Abstracts

Introduction: Autoimmune thyroiditis is rarely painful. A tender goitre usually indicates viral thyroiditis. Here, we present a case of a persistent painful goitre due to sclerosing-type Hashimoto’s thyroiditis.Case presentation: Our patient is a 27-year-old mother, with no significant past medical history. She was diagnosed with autoimmune hypothyroidism in October 2005 when 4 months post-partum. At diagnosis her anti-TPO titre was 2041 U/ml...

A 39 yr-old female with a past medical history of a non-metastatic ductal breast carcinoma, presented to hospital with a two-week history of vomiting and dizziness. Clinical examination was essentially normal apart from pigmentation of her mastectomy scar, palmar creases and buccal mucosa. Investigations revealed a plasma sodium (Na) 102 mmol/l, potassium 4.9 mmol/l, plasma osmolality 219 mOsm/kg, urine osmolality 173 mOsm/kg and urine Na 36 mmol/kg. She was treated with fluid...

Introduction: We present a 5-year-old girl with thyroid hormone resistance, subsequently discovered to be heterozygous for TRβ mutation. This case highlights the necessity to investigate, in detail, all children with persistently high thyroxin with normal TSH levels in order to aid future management and the necessity to follow them up.Case report: SD was born at term by normal delivery weighing 3.34 kg (50th centile). She was referred at 6 months of...

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Case report: Two of six children born to unrelated parents presented in the neonatal period with salt-losing CAH due to compound heterozygosity in CYP21A2 (maternal...

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...

Aim: Focussed parathyroidectomy is an established technique in subjects where imaging has identified a single parathyroid lesion. The aim of this study was to examine the long-term cure rate following this procedure.Method: Of 188 patients undergoing surgery for primary hyperparathyroidism between 2001 and 2006, 150 had a single parathyroid lesion on imaging using sestamibi +/− neck ultrasound. These patients were treated by focused parathyroidecto...

Introduction: Thyrotropinomas comprise <1% of all pituitary tumours, but detection is increasing with more widespread use of ultrasensitive TSH assays. Although distinct, the classical biochemical signature – hyperthyroxinaemia with non-suppressed TSH – is not specific to thyrotropinoma, as drug effects, non-thyroidal illness, and assay interference can all yield similar patterns of thyroid function tests. Even when these more common confounders have been exclude...

Patients with the syndrome Resistance to Thyroid Hormone (RTH) exhibit purturbances in regulation of serum thyroxine and often suffer from hypermetabolism, tachycardia, hyperactivity and mental retardation. Most of these patients express a mutant thyroid hormone receptor beta (TRb) unable to bind ligand, resulting in transdominant negative effects in transcription. As no patient with a mutant TRa has been identified, we introduced into the mouse TRa1 gene a point mutation foun...

Hyperthyroid rats and humans exhibit increased energy expenditure and marked hyperphagia. Recent evidence has pointed that alterations of thermogenesis linked to hyperthyroidism are associated to dysregulation of hypothalamic AMPK and fatty acid metabolism; however, the central mechanisms mediating hyperthyroidism-induced hyperphagia remain largely unclear.Objective: The aim of our study was to assess if alterations in feeding in hyperthyroidism are asso...

RP (a 60 yr-old male) was found to have multiple atrial myxomata, whilst being investigated for recurrent attacks of amaurosis fugax affecting his left eye. During the preceding twenty years he had undergone repeated resections of cutaneous tumours, which were reported as neurofibromata. A clinical diagnosis of Carney Complex (CNC) was made based on the presence of multiple cutaneous nodules and atrial myxomata. RP displayed mild acromegalic features, but no pigmentation abnor...