ETA2023 Poster Presentations Miscellaneous 2 (9 abstracts)
Resistance to thyroid hormone alpha: outcomes of twelve years of thyroxine therapy
Carla Moran 1 , Faraneh Vargha-Khadem 2 , Chris Clark 3 , Kiran Seunarine 3 , Francesco Muntoni 4 , Richard Bethlehem 5 , Keith Lindley 6 , Laura Watson 7 , Greta Lyons 7 , Mehul T. Dattani 8 & Krishna Chatterjee 9
1Endocrine Department, Endocrine, Ucd School of Medicine, Dublin, Ireland; 2Great Ormond Street Hospital, London, United Kingdom; 3Ucl Great Ormond St Institute of Child Health, United Kingdom; 4Ucl Institute of Child Health, London, United Kingdom; 5Autism Research Centre and Department of Psychology, Cambridge, United Kingdom; 6Great Ormond Street Hospital, Great Ormond Street Hospital, Department of Gastroenterology, Neurogastroenterology and Motility Division, London, United Kingdom; 7Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke’s Hospital, Cambridge, United Kingdom; 8Great Ormond Street Hospital for Children, London, United Kingdom; 9University of Cambridge, Wellcome-Mrc Institute of Metabolic Science, Cambridge, United Kingdom
Objectives: In 2011, we described the first case of Resistance to Thyroid Hormone due to a mutation in thyroid hormone receptor a (RTHα) in a six year old child with features of congenital hypothyroidism but near-normal thyroid function tests. Here, we report outcomes following twelve years of thyroxine therapy in this patient.
Methods: Colonic contractility, intestinal transit time, growth, resting energy expenditure, heart rate and biochemical parameters were measured serially during thyroxine treatment. Neurologic, cognitive and neuroimaging phenotypes at age 8 and 17yrs were compared.
Results: Following thyroxine therapy, delayed intestinal transit time (>72hrs) normalised, with absent colonic contractile activity being restored. Short stature has significantly improved (height – 3.0 SDS at age 6yrs vs – 0.6 SDS at age 18yrs), with greatest change in lower segmental height (- 3.0 SDS to -1.0 SDS). Thyroxine therapy is required in high (3.8 mg/kg) dosage to normalise resting energy expenditure (baseline <2nd centile; currently 25-50th centile), but biochemical hyperthyroidism (TSH <0.03mU/l, FT4 54 pmol/l (RR 10-21), FT3 21 pmol/l (RR 3.5-6.9) has not raised serum sex hormone binding globulin levels (baseline 146 nmol/l (RR 40-140); currently 118 nmol/l) or average heart rate (2011: 83 bpm; 2023: 78 bpm). Deficits in visual perception, visuo-motor integration, speed of information processing and motor coordination (all < 1st centile) persist. Previous localised reductions in density of white matter tracts have resolved; changes in brain volume (including previous cerebellar involution) are being assessed.
Conclusions: In childhood RTHα, thyroxine therapy to normalise metabolic rate remedies growth retardation and slow intestinal transit. Ongoing educational support, targeted at overcoming persistent neurocognitive deficits, may enable the patient to achieve her full potential.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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