Searchable abstracts of presentations at key conferences in endocrinology
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44th Meeting of the British Society for Paediatric Endocrinology and Diabetes

ea0045p71 | Thyroid | BSPED2016

Thyrotoxicosis: A rare paediatric endocrine manifestation of chromosome 2q37 deletion

Losa Ignatius , Aman Nosheen

Albright hereditary osteodystrophy-like (AHO-like) syndrome is a rare syndrome characterized by features including distinctive dysmorphism, developmental delay and short stature. The 2q37 locus is the commonly deleted subtelomeric region. Individuals may have either pseudohypoparathyroidism (PHP), with end organ resistance to PTH and certain other cAMP dependent hormones, or pseudopseudohypoparathyroidism (PPHP) with normal hormone responsiveness.Autoimm...

ea0045p72 | Thyroid | BSPED2016

Congenital hypothyroidism in vein of galen malformation patients

Langham Shirley , Toolis Claire , Peters Catherine

Introduction: Vein of Galen (VoGM) is a rare intracerebral vascular anomaly which may be detected on antenatal imaging or present in the neonatal period with secondary cardiac failure. A potential association with congenital hypothyroidism was examined.Investigation: Between the seven months of October 2015 and May 2016 six infants with VoGM were treated at our tertiary centre. Three (50%) were also referred through Congenital Hypothyroidism (CHT) Newbor...

ea0045p73 | Thyroid | BSPED2016

Levothyroxine therapy associated with idiopathic intracranial hypertension (IIH)

Massey Hannah , Hoh Yoke Sin , Rajesh A , Krishnakumar D , Goonetilleke R

Introduction: IIH is associated with hypo and hyperthyroidism. We report a case of IIH where the likely precipitant was the treatment for hypothyroidism itself, levothyroxine, and the challenges this presents.Case: A 14-year-old girl was diagnosed with primary hypothyroidism following investigations for short stature (height 137 cm < 0.4th centile). Serum assay showed TSH 538 mU/l (0.55–4.78 mU/l), T4 0.68 pmol/l, (1.7–22.7 pmol/...