ESPE Abstracts

Background & Objective: Indigenous children in Canada have higher rates of obesity and type 2 diabetes mellitus (T2DM) and diabetes-related complications when compared to non-Indigenous children. Indigenous knowledge-based view of health encompasses a holistic approach with physical, mental, emotional, and spiritual health dimensions. This view of health will likely impact their engagement in interventions targeting obesity and T2DM. This systematic review...

Background: Insulinomas are very rare in childhood with sparse knowledge on the clinical aspects and the presence of Multiple Endocrine Neoplasia type 1 (MEN1).Methods: We conducted a multicentre retrospective review of patients diagnosed with insulinoma between 1995-2021. Clinical, biochemical, genetic, imaging and histological data were collected. In addition, follow-up and family data were obtained.<p class="abste...

Background: Although GH’s safety profile since 1987 is good, concerns remain regarding cancer (CA) risk, and French SAGhE data indicated increased mortality and cerebrovascular disease (CVD) in certain GH-treated patients (pts).Objective and hypotheses: To evaluate key safety outcome incidence in GH-treated pts of all short stature diagnoses (dx) who participated in GeNeSIS (1999–2015, 30 countries).Methods: Pt history/ca...

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

Background: Differences in sexual development (DSD) are rare diagnoses, which affect the chromosomal, anatomical or gonadal sex differentiation. Although comprehensive counseling of patients and parents/carers is necessary to ensure a positive coping with the diagnosis and a well-informed decision-making, standardised programmes are lacking. Empower-DSD is a government-funded project, which developed an age-adapted multidisciplinary education programme to impr...

Background: Within the government-funded project Empower-DSD, modular training programmes for children and young adults aged 6-24 years with the diagnoses CAH, Turner-syndrome, Klinefelter-syndrome or XX-/XY-DSD (including MRKH) and their relatives were developed to improve diagnosis-specific knowledge, skills and empowerment. Overall, 105 trainings were offered between August 2020 and September 2022 in 5 centres with DSD expertise in Germany.<p class="abs...

Background: The beginning and evolution of physiological puberty may be occurring earlier, resulting in change in the age at which clinical investigation on precocious puberty must be conducted, as well as concerns regarding the possible deleterious effects of hormone exposure in a later stage of life.Objective and hypotheses: Assess age of beginning and evolution of puberty in boys and girls acknowledging the age of thelarche (T), menarche (M), period b...

Introduction: Diabetic retinopathy is a leading microvascular complication and preventable cause of vision loss. NHS diabetes eye screening program (DESP) assesses for early signs, with population prevalence between 3.5% and 24.2%. Understanding the factors involved is important to reduce morbidity.Aims and objectives: Establish clinical characteristics and modifiable risk factors for patients with retinopathy identified...

Background: Over 800 different mutations in GCK gene have been reported in the Human Gene Mutation Database, the vast majority of which result in monogenic diabetes (Maturity Onset Diabetes of the Young, MODY type 2). The missense mutation p.Leu122Val is listed in that database as "disease-causing". However, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain ...

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...