Searchable abstracts of presentations at key conferences in endocrinology

ea0036P71 | (1) | BSPED2014

A novel de novo heterozygous mutation in FGFR1 is associated with Hartsfield syndrome

Prasad Rathi , Brewer Carole , Burren Christine P

Introduction: Hartsfield syndrome (#OMIM 615465) describes the rare co-occurrence of holoprosencephaly with ectrodactyly, associated with a spectrum of developmental defects including specific pituitary dysfunction.Case report: Our patient, a male infant, had several congenital abnormalities: bilateral cleft lip and palate, right sided microtia, bilateral ectrodactyly of the hands and feet and semilobar holoprosencephaly. Aged 5 weeks he was noted to be ...

ea0036P73 | (1) | BSPED2014

GH deficiency contributes to short stature in children with chromosome 18 rearrangements

Prasad Rathi , Crowne Elizabeth C , Burren Christine P

Introduction: Chromosome 18 rearrangements are postulated to be associated with short stature, of uncertain pathophysiology.Methods: Retrospective case review (short stature with chromosome 18 rearrangement), investigation for GH deficiency (peak GH <7 ╬╝g/l on glucagon or ITT, unless otherwise indicated) and determining response to GH treatment.Results: In 13 year six such cases were referred from the geneticists, mean ref...

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┬ľWiedemann 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...

ea0033p19 | (1) | BSPED2013

6-Mercaptopurine linked with hyperinsulinaemic hypoglycaemia in two children with acute lymphoblastic leukaemia

Wei Christina , Simmons Andrea , Tunstall Oliver , Burren Christine P

Introduction: Hypoglycaemia is a rare side-effect of 6-mercaptopurine (6MP) with unclear mechanism(s). The occurrence of hyperinsulinism accompanying the hypoglycaemia is reported here for the first time in children on 6MP for acute lymphoblastic leukaemia (ALL).Case1: Caucasian female, diagnosed with ALL aged 4 years, was treated under UKALL2003 regime A. During an admission for neutropaenic sepsis, asymptomatic hypoglycaemia was noted pre-breakfast for...

ea0058p039 | Thyroid | BSPED2018

Isolated central congenital hypothyroidism (CCH) due to (Immunoglobulin SuperFamily member 1) IGSF-1 gene deficiency

Sharma Anu , Narayan Kruthika , Scurr Ingrid , Warner Justin , Burren Christine P

Introduction: Central congenital hypothyroidism (CCH), undetected by TSH-based NewbornScreening, occurs from TSH synthesis or secretion defects. An extremely rare (<1:100,000) cause concerns the recently described ImmunoGlobulinSuperFamily member 1 (IGSF1) gene, critical in TSH biosynthesis. These 2 infants highlight intriguing clinical features.Case-1: Term male (BW 3.95 kg) with poor feeding and persistent jaundice (max bilirubin 362 umol/l) despit...