ESPE Abstracts

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: Classically adrenal insufficiency presents with hyponatraemia and hyperkalaemia, however the differential may be of alternative origin. Atopic dermatitis is a common inflammatory skin disease of infancy and childhood. In severe cases, the exudation from wet lesions can produce serious complications such as infection+very rarely electrolytes abnormalities as seen in this case.Case report: A 6-month-old female infant was referred for endocrine ...

Background: Neonatal diabetes mellitus (NDM) presents within 6months of life, is either permanent (PDM) or transient (TND). The incidence is 400 000/live births. Monogenic accounts for the majority of cases. We describe the case of what appears to be a familiar NDM with no current known cause.Case report: EM presented at 3 weeks old. She was born at term, IUGR (2.3 kg) with one day history of diarrhoea, vomiting and anorexia. There was no history of poly...

The third child to Burmese parents is born at term in good condition in a suburban hospital. The baby was breast fed from birth and had a normal physical examination without dysmorphic features or palpable liver edge. The parents have had two previous live male births at term, that developed severe jaundice and seizure in the first 24 hours of life; both passed away on day 3 of life. Due to concerns of possible metabolic condition, the baby was commenced on prophylactic photot...

Background: Imprinting disease such as Prader-Willi syndrome (PWS) are associated with pathological sleep due to central and obstructive apneas. No data are available concerning Silver Russell syndrome (SRS) but most patients describe day asthenia and snoring. These patients also often present with maxillo-facial malformations.Aims and objectives: We wanted to characterise sleep in SRS and evaluate GH therapy possible effect on it....

Background and Aim: Pediatric patients with germline mutations in the tumor suppressor gene PTEN (PTEN hamartoma tumor syndrome, PHTS) frequently develop lipomas. PTEN antagonizes phosphoinositide 3-kinase (PI3K) signaling, which can induce adipogenesis upon activation through insulin. The PI3K downstream target AKT can deactivate FOXO1 via phosphorylation, initiating the expression of the lipogenesis activating transcription factor SREBP1. To study t...

Background: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain. This protein is located within the internal membrane of mitochondria. COX deficiency is an inherited mitochondrial disease associated with considerable genetic and clinical variability(1). In fact, four clinical subtypes of this condition have been identified, each one with several phenotypic and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 is a rar...

We are in an exciting and interesting time, when pediatricians and reproductive endocrinologists across the globe rise to the challenge of providing fertility services for people with a history of gonadotoxic diseases. Indeed, developments in numerous medical fields have improved long-term survival rates for many diseases that strike children and young adults. However, to survive is no longer enough. The emphasis is shifting, to enable people to live a life as normal as possib...

Background: Endocrine deficiencies, including impairment of the hypothalamic-pituitary-gonadal axis (HPGA), are found in the majority of survivors of medulloblastoma, due to high-dose craniospinal irradiation and gonadotoxic chemotherapy. Data regarding HPGA function in survivors of medulloblastoma is limited to small groups of patients and focusses mainly on female survivors. Furthermore, few studies investigated specific risk factors such as treatment protoc...

Background: Patients with Congenital Adrenal Hyperplasia (CAH) are at risk of several co-morbidities, such as impaired cognitive functions, short stature and adverse effects on metabolism. The causes of these effects are suboptimal glucocorticoid replacement therapy, adrenal crises and prenatal glucocorticoid exposure. However, there are no data available to this day how these factors are affecting epigenomic programs.Objective and hypot...