Searchable abstracts of presentations at key conferences in endocrinology

ea0031p360 | Thyroid | SFEBES2013

Homozygous resistance to thyroid hormone: can cardiac complications be prevented?

Moran Carla , Al-Johani Amal , Rajanayagam Odelia , Halsall David , Habeb Abdelhadi , Chatterjee V K K

Resistance to thyroid hormone (RTH) is usually due to heterozygous mutations in THRB gene with rare cases being homozygous for receptor defects. We describe an RTH case due to a homozygous TRβ mutation (R243Q).The Proband (male, 8.4 years), was born at term with low birth weight (1.9 kg) to consanguineous parents. He has a prominent nasal bridge, goitre, low body weight (10th centile), recurrent tonsillitis, hyperactivity and has mild hearing impair...

ea0031p365 | Thyroid | SFEBES2013

The challenge of managing refractory amiodarone-induced Graves' disease in resistance to thyroid hormone

Moran Carla , Chatterjee V K K , Page M D , Owen Penny

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...

ea0034p423 | Thyroid | SFEBES2014

Autoimmune thyroid disease in the presence of resistance to thyroid hormone or TSH-secreting pituitary tumour: a diagnostic challenge

Moran Carla , Koulouri Olympia , Talbot Fleur , Mitchell Catherine , Schoenmakers Nadia , Lyons Greta , Gurnell Mark , Chatterjee V K K

Background: Hyperthyroxinaemia with non-suppressed TSH, due to resistance to thyroid hormone (RTH) or TSH-secreting pituitary tumour (TSHoma), can be difficult to diagnose, particularly with coincident autoimmune thyroid disease (AITD).Methods: To determine presentation patterns of AITD coincident with RTH or TSHoma, we analysed our cohort of cases with dual diagnoses.Results: Nine patients with RTH had AITD. Six had Graves’ d...

ea0023oc1.4 | Oral Communications 1 | BSPED2009

A multisystem disorder associated with defective selenoprotein synthesis and a thyroid signature

Padidela R , Al-Ali N , Schoenmakers E , Agostini M , Rajanayagam O , Dattani M T , Chatterjee V K K

The superfamily of ~25 human selenoproteins includes antioxidant and oxidoreductase enzymes together with other proteins of unknown function. We describe a child with a multisystem disorder involving deficiencies of several selenoproteins, identified on the basis of abnormal thyroid function.A 3.6-year-old male was referred with elevated free thyroxine (FT4 – 44.4 pmol/l (N 12–22)), low free triiodothyronine (FT3 &#...