Searchable abstracts of presentations at key conferences in endocrinology

ea0026p413 | Thyroid (non cancer) | ECE2011

Sclerosing Hashimoto’s thyroiditis: a case presentation

Talbot F , Krishnan S , Mathews A , Marker A , Jani P , Chatterjee K

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...

ea0012p31 | Clinical case reports/Governance | SFE2006

Severe hyponatremia and subsequent extra-pontine myelinolysis as a presentation of addison’s disease

Strey C , Gurnell M , Chatterjee K , Woods D , Simpson H

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...

ea0036P81 | (1) | BSPED2014

A case report of TRβ mutation leading to raised T4 levels presenting with abnormal body habitus

Tomlinson N D , Banerjee I , Chatterjee K , Smith T D , Mukherjee A

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...

ea0033p6 | (1) | BSPED2013

Severe 21-hydroxylase deficiency congenital adrenal hyperplasia and congenital hypothyroidism due to thyroglobulin mutations in a single family: two distinct genetic disorders with phenotypic variability within a single family

Ponmani Caroline , Schoenmakers Nadia , Rumsby Gill , Nicholas Adeline K , Chatterjee Krishna , Dattani Mehul

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...

ea0029oc2.4 | Thyroid Clinical I | ICEECE2012

The thyroid hormone receptor-coactivator interface mediates negative feedback regulation of the human pituitary–thyroid axis

Moran C. , Agostini M. , Schoenmakers E. , Mitchell C. , Gregory J. , Gurnell M. , Chatterjee K.

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...

ea0013p85 | Clinical practice/governance and case reports | SFEBES2007

Long term follow up following focused parathyroidectomy for primary hyperparathyroidism

Simpson Helen , Fisher Simon , Gurnell Ellie , McFarlane Ian , Berman Lawrence , Balan K , Chatterjee Krish , Wishart Gordon

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...

ea0019p276 | Pituitary | SFEBES2009

Hyperthyroxinaemia with non-suppressed TSH in a clinically euthyroid woman with an unusual sella mass

Al-Ali N , Halsall D , Antoun N , Pickard J , Wood D , Simpson H , Jennings A , Chatterjee K , Gurnell M

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...

ea0002sp1 | European Medal Lecture | SFE2001

Phenotype of mice harboring a thyroid hormone receptor alpha 1 gene with transdominant negative properties

Vennstrom B , Tinnikov A , Adams M , Thoren P , Kindblom J , Malin S , Rozell B , Pettersson S , Ohlsson C , Chatterjee K

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...

ea0029p1564 | Thyroid (non-cancer) | ICEECE2012

Hypothalamic mTOR pathway mediates thyroid hormone-induced hyperphagia in hyperthyroidism

Sanchez N Martinez , Varela L. , Martins L. , de Morentin P Martinez , Gallego R. , Vazquez M. , Roa J. , Gandara M. , Schoenmakers E. , Nogueiras R. , Chatterjee K. , Sempere M. Tena , Dieguez C. , Lopez M.

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...

ea0012oc13 | Placenta, bone and genetics | SFE2006

A kindred with Carney Complex due to a novel PRKAR1A gene mutation (c1067_1070 del AACG ins GCCCA)

Strey C , Randall J , Conroy S , Horvath A , Weissberg P , Berman L , Dixon A , Hoffman G , Cooper J , Firth H , Wood D , Simpson H , Chatterjee K , Stratakis C , Melvin A , Gurnell M

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...