ESPE Abstracts

I was diagnosed with Kallmann syndrome at the age of 23 in the 1990's. I was never seen by a paediatrician as a teenager, even though I had two additional "red flag" symptoms of anosmia and hearing loss in addition to my lack of puberty. I was seen as being a "late bloomer" and told to "wait and see". Even though the awareness of hypogonadotropic hypogonadism (HH) / Kallmann syndrome / Isolated GnRH deficiency has increased since my diagnosis...

Background: Pathologic mutations in RAI1 gene (typically microdeletions) cause SMS. Patients have characteristic physical appearance, developmental delay, sleep disturbances, and obesity; without hypothalamic dysfunction. Thaker et al published a case of a child with clinical diagnosis of ROHHAD with a mutation in the RAI1 gene (c.3265C>T: p.R1089X) found by whole exome sequencing. He had a physical appearance consistent with SMS and sleep cycle di...

Diazoxide Choline Controlled Release Tablet (DCCR) is under development for the treatment of Prader-Willi syndrome (PWS). The objective of this research was to characterize single dose and steady state pharmacokinetics, dose linearity and food effects of DCCR across five clinical studies. Single dose pharmacokinetics of DCCR were compared to diazoxide oral suspension (Proglycem®) in a study in obese subjects (PK001). Steady state pharmacokinetics were evaluated...

Background: Childhood obesity remains a significant public health concern, with weight management programmes to date only showing limited success. This project aims to evaluate initial first year outcomes for our Complications of Excess Weight (CEW) Service based at our tertiary paediatric centre. Children and young people with significant obesity in our region and referred to the service, receive tier 3 weight management support, including intensive lifestyle...

Introduction: Type 1 diabetes has a major impact on not only the person diagnosed, but also their families/carers. Diabetes control is affected by many factors. Our diabetes patient cohort has a very high level of social burden which we feel impacts significantly on the management of their diabetes.Methods: We performed a retrospective analysis of all young people supported by the Evelina London Children’s Hospital diabetes team in 2017 looking at a...

Background: Diagnosis of adrenal insufficiency in the neonatal period is most accurately diagnosed with a short Synacthen test. Some tertiary endocrinology centres advocate random serial cortisol measurements over a 3-h period; a normal cortisol reading during such a test would negate the need for a Synacthen test.Objective and hypotheses: Our aim is to assess whether serial cortisol level readings accurately identifies neonates with normal adrenal funct...

DCCR is a once daily tablet formulation of the choline salt of diazoxide, a KATP channel agonist. DCCR is being developed for the treatment of hyperphagia in Prader-Willi syndrome (PWS), the most common genetic cause of life-threatening obesity. In a phase 2 study, DCCR treatment resulted in significant reductions of hyperphagia and aggressive behaviors. Diazoxide increases glucose by decreasing beta-cell insulin secretion in hyperinsulinemic conditions. However, ot...

Background: Ovotesticular disorders of sexual development (DSD) are a rare form of DSD with co-existence of both ovarian and testicular tissue in one or both gonads.Case report: A term infant (weight +1.38 SDS) presented at birth with severe penoscrotal hypospadias, a small phallus and a right hemiscrotum with descended gonad (external masculinization score 1.5). Pelvic ultrasound revealed no Mullerian structures, a small right gonad with probable epidid...

Background: Bone age studies require X-ray of the left hand and wrist to assess skeletal maturity. The Tanner-Whitehouse 3 (TW3) scoring method provides an objective framework for calculating bone age and specifies exact placement of the hand. In our service we have noted a number of poor quality films, caused by difficulty with hand placement, e.g. scrunching of the fingers. This compromises the ability to score accurately and in a proportion necessitates re-X-ray, with time,...

Real-world studies reporting the impact of continuous glucose monitoring (CGM) in children with Type 1 diabetes (T1D) are limited. In April 2017 CGM became fully subsidised in Australia for children with T1D <21yrs. We report the impact of this in a large population based sample of paediatric diabetes (n=1093). Almost all (99%) children (age < 18yr) with diabetes in Western Australia attend a single paediatric diabetes centre.Pri...