Searchable abstracts of presentations at key conferences in endocrinology

ea0045p62 | Pituitary and growth | BSPED2016

Clinical characteristics of Cornelia de Lange Syndrome due to an HDAC8 mutation

Wilkinson Ingrid , Thalange Nandu , Hammond Peter

J was born at term (2.62 kg). She presented aged six months with severe faltering growth, (weight 5.1 kg, length 57.3 cm, OFC 39.0 cm). Investigations showed elevated prolactin (1838 mIU/l) and undetectable IGF1 but were otherwise normal. Her karyotype was 46XX. A brain MRI was normal. By 11 months of age she had evident developmental delay and dysmorphic features (triangular face; hypertelorism; synophrys; broad nasal root; short nose with rounded tip; carp like mouth; short ...

ea0051p002 | Thyroid | BSPED2017

Radioactive Iodine therapy for the management of hyperthyroidism in children and adolescents

Wilkinson Ingrid C E Wilkinson , Meso Muriel , Rowse Victoria , Joel Emily , Morris Elizabeth , Price Leanne , Storr Helen L , Drake William M

Background: Radioactive iodine therapy (RAI) is established as a safe and effective treatment for adults with Grave’s disease. As thyrotoxicosis in children is rare, it is difficult to obtain high quality evidence about the safety and efficacy of RAI. We present data from our centre between 2007 and 2017.Methods: 20 paediatric patients with hyperthyroidism (16F), median age 15.7 years (range 10.8–19.3) had RAI in our centre either one or two do...

ea0036P26 | (1) | BSPED2014

Can proportion of children achieving HbA1c below 58 mmol/mol within the first year of diagnosis be used as a standard of quality of care provided for children with type 1 diabetes?

Harrison Clare , Wilkinson Ingrid , Anand Binu , Furley Rachel , Abdullah Nadeem , Bhandari Jasjit , Puthi Vijith , Rafiq Anjum , Lim Sharon , Manoharan Karthikeyini , Gomez Alina , Harham Bharat , Bude Lija , Datta Vipan

Background: Children with HbA1cs in target within the first year of diagnosis of diabetes show tracking of future results1 and experience fewer long term complications.2 This phenomenon is called ‘metabolic memory.3 HbA1C depends on a combination of patient factors and quality of care offered by the team (intensive insulin, communication, and support). We hypothesized that well managed, supported, patients should achieve target HbA1cs at l...

ea0058oc5.5 | Oral Communications 5 | BSPED2018

New insights into the low dose dexamethasone suppression test in paediatric Cushing’s syndrome (CS)

Wilkinson Ingrid CE , Riddoch Fiona , Perry Lesley A , Martin Lee , Grossman Ashley B , Monson John P , Akker Scott , Savage Martin O , Drake William M , Storr Helen L

Background: The low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l (0.5 mg 6 hrly × 48 hrs) comes from a time when biochemical auto analysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s disease (CD) suppressed to <50 nmol/l at 48 hrs. Many clin...

ea0051oc5.1 | Oral Communications 5 | BSPED2017

New insights into the preoperative localisation of corticotroph adenomas in paediatric Cushing’s disease (CD)

Wilkinson Ingrid C.E. , Evanson Jane , Matson Matthew , Miszkiel Katherine , Grieve Joan , Sabin Ian , Afshar Farhad , Martin Lee , Grossman Ashley B. , Akker Scott , Savage Martin O. , Drake William M. , Storr Helen L.

Introduction: Selective transsphenoidal microadenomectomy (TSS) is the first-line treatment of paediatric Cushing’s disease (CD). Corticotroph adenomas in children are often small and difficult to visualize. We aimed to assess the utility of pituitary MRI and bilateral inferior petrosal sinus sampling (BIPSS) in confirming the diagnosis of CD and the localisation of the adenoma. We also report our early experience of STEALTH MRI (volumetric T1 weighted, contrast-enhanced ...