Searchable abstracts of presentations at key conferences in endocrinology

ea0036P88 | (1) | BSPED2014

Severe hypothyroidism developing in an infant with hepatoblastoma and Beckwith–Wiedemann syndrome: could there be a link?

Cordingley Rebecca , Cox Rachel , Tomkins Susan , Burren Christine P

Hypothyroidism presents diagnostic challenges when occurring in an extremely unwell infant with hepatoblastoma. This case indicates a possible link between Beckwith–Wiedemann syndrome (BWS) and severe hypothyroidism.Antenatally, the baby had polyhydramnios and an abdominal mass. After normal vaginal delivery at 38+4 weeks, examination showed macrosomia (4007 g) small nose, low set ears and inverted V-shaped mouth. Transient hypoglycaemia on day 1 re...