Searchable abstracts of presentations at key conferences in endocrinology

ea0059p152 | Nursing practice | SFEBES2018

Conducting research in vulnerable populations can be safe, beneficial and well received if infrastructure and staff experience are appropriate to patient’s needs

Lyons Greta , McGowan Anne , Moran Carla

Introduction: Patients with complex health care needs and severely limited communication and mobility may be less likely to participate in research studies, and may find continued participation in such studies challenging. Allan Herndon Dudley syndrome (AHDS), due to defective thyroid hormone transporter (MCT8), causes severe neurological and physical disability. A multicentre trial (the TRIAC trial) studying the efficacy of the thyroid hormone analogue TRIAC in this rare cond...

ea0059cc10 | Featured Clinical Cases | SFEBES2018

Thyroid hormone pattern in Familial Dysalbuminemic Hyperthyroxinemia (R218H mutation) on different assay platforms

Khoo Serena , Lyons Greta , McGowan Anne , Gurnell Mark , Oddy Susan , Halsall David , Chatterjee Krishna , Moran Carla

Introduction: Familial dysalbuminemic hyperthyroxinemia (FDH) is characterized by artefactual hyperthyroxinemia caused by enhanced binding affinity of thyroxine to the mutant albumin. However little is known about how FDH affects the measurement of thyroid hormones, especially FT3, across many assay platforms.Methods: Forty-eight genetically confirmed FDH patients (R218H mutation) had FT4 and FT3 measured with 1-step (ADVIA CENTAUR®, Siem...

ea0051oc5.8 | Oral Communications 5 | BSPED2017

Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locus

van Walree Eva , Park Soo-Mi , Bochukova Elena , Nicholas Adeline K , Lyons Greta , Chatterjee V Krishna , Schoenmakers Nadia

Introduction: Isolated congenital central hypothyroidism (CeCH) is a rare entity associated with mutations in IGSF1, TSHB, TRHR, or the coding region of TBL1X. We describe a female with CeCH and extrathyroidal features due to a partial X-chromosomal deletion involving TBL1X and other genes. Further studies showed markedly reduced TBL1X expression in patient-derived leukocytes and enabled linkage of particular clinical phenotypes to ...

ea0044oc3.1 | Thyroid and Neoplasia | SFEBES2016

Frequent Occurrence of DUOX2 and DUOXA2 Mutations in Cases with Borderline Bloodspot Screening TSH who Develop ‘True’ Congenital Hypothyroidism

Peters Catherine , Nicholas Adeline K , Lyons Greta , Langham Shirley , Serra Eva , Schoenmakers Erik , Muzza Marina , Fugazzola Laura , Schoenmakers Nadia

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

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...

ea0045oc5.7 | Oral Communications 5- Endocrine | BSPED2016

Frequent occurrence of DUOX2 and DUOXA2 mutations in cases with borderline bloodspot screening TSH who develop ‘True’ congenital hypothyroidism

Peters Catherine , Nicholas Adeline K. , Lyons Greta , Langham Shirley , Serra Eva G. , Schoenmakers Erik , Muzza Marina , Fugazzola Laura , Schoenmakers Nadia

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

ea0051oc2.1 | Oral Communications 2 | BSPED2017

Discordant TSH measurements in an euthyroid child due to a homozygous TSHbeta subunit gene variant with variable immunoreactivity

van Walree Eva , Hendriks A Emile J , Moran Carla , Nicholas Adeline K , Lyons Greta , McGowan Anne , Halsall David , Oddy Sue , Chatterjee V Krishna , Schoenmakers Nadia

Introduction: Thyroid function tests are frequently undertaken in children with non-specific symptoms suggestive of thyroid dysfunction. Infrequently, susceptibility of automated thyroid hormone assays to interference may generate misleading results, with the potential for inappropriate diagnosis and management. We report an unusual case with apparent subclinical hyperthyroidism, due to negative interference in particular TSH assay platforms, with an underlying genetic basis.<...

ea0044p151 | Neuroendocrinology and pituitary | SFEBES2016

MicroTSHoma: an emerging clinical entity with ‘atypical’ biochemical features and often ‘normal’ imaging characteristics on MRI

Koulouri Olympia , Moran Carla , Heard Sarah , Lyons Greta , Smith Rob , Aigbirhio Franklin , Antoun Nagui , Cheow Heok , Halsall David , Chatterjee Krish , Gurnell Mark

Background: Heightened awareness, as well as frequent thyroid function testing, have contributed to a recent rise in the incidence of thyrotropinomas. Microadenomas are now increasingly being recognized. The classical textbook description of thyrotropinomas is based on historically reported features in patients who typically had large/invasive lesions. The phenotype of microTSHomas could therefore differ.Methods: We reviewed the records of all TSHomas re...

ea0044p241 | Thyroid | SFEBES2016

Contrasting phenotypes in Resistance to Thyroid Hormone α correlate with divergent properties of thyroid hormone receptor α1 mutant proteins

Moran Carla , Agostini Maura , McGowan Anne , Schoenmakers Erik , Fairall Louise , Lyons Greta , Rajanayagam Odelia , Watson Laura , Offish Amaka , Barton John , Price Susan , Schwabe John , Chatterjee Krishna

Resistance to Thyroid Hormone alpha (RTHα) is characterised by tissue-selective hypothyroidism with near-normal thyroid function tests, and is due to thyroid receptor α gene mutations. We sought to correlate the clinical characteristics and response to thyroxine treatment of two RTHα patients with the properties of their defective TRα proteins.Clinical, biochemical and physiological parameters were assessed in each patient at baseline...

ea0084ps2-09-84 | Thyroid Hormone ACTION | ETA2022

Molecular mechanisms underlying action of triac in resistance to thyroid hormone BETA (RTHβ)

Liao Wenjun , van Geest Ferdy , Marelli Federica , Campi Irene , Moran Carla , Lyons Greta , Agostini Maura , Peeters Robin , Chatterjee Krishna , Persani Luca , Meima Marcel , Edward Visser W.

Background: Resistance to thyroid hormone (TH) beta (RTHβ), caused by mutations in THRB, is characterized by elevated serum (F)T4 accompanied by non-suppressed TSH concentrations. Disease features arise from variable resistance to TH action in tissues expressing Thyroid Hormone Receptor (TR) β (hypothalamus, pituitary, liver) and from thyrotoxic effects in tissues expressing TRα (heart, bone, brain). In symptomatic patients, treatment mainly involves be...