ESPE Abstracts

Background: Hypoglycaemia is a common critical condition in paediatric emergencies, with diverse aetiologies including metabolic disorders and endocrine dysfunctions. Adrenal insufficiency is a life-threatening cause, that requires prompt diagnosis and intervention. This case study presents a rare incidence of hypoglycaemia secondary to adrenal failure in a paediatric patient with Kearns-Sayre Syndrome (KSS), a mitochondrial disorder affecting multiple systems...

Presentation: A 15-year-old girl presented to Paediatric A&E with lethargy, polyuria, polydipsia and blurred vision. Initial blood gas showed a pH of 7.28, blood glucose unrecordable and ketones of 4mmol/L. The patient was started on IV fluids and insulin, according to the diabetic ketoacidosis (DKA) protocol, and a new diagnosis of type 1 diabetes mellitus was made.Investigations: Finger-prick capillary sampling pro...

Background: There has been a secular increase in Precocious puberty in recent years. We have also seen an increase in referrals and confirmed cases of precocious puberty in our clinics. The suspected cased underwent a Gonadotrophin Releasing Hormone (GnRH) test (GnRH) The initiation of therapy is discussed with tertiary endocrinologist colleagues, but the treatment has been delivered locally. We have recently discussed with colleagues from pharmacy aspects rel...

Background: Subcutaneous fat necrosis of the Newborn (SCFN) is a rare disease occurring in the first days of life. Characteristically the infants show hard nodules in subcutaneous tissue, purple or erythematous in color and appear on the upper back, cheeks, buttocks and limbs. In most cases SCFN is a self-limiting disease, as the nodules disappear in up to 6 months. A severe complication associated with SCFN is hypercalcemia. Pathophysiological mechanisms caus...

Introduction: Elevated obesity prevalence among transgender individuals compared to cisgender control groups or general population have been reported in some studies. Whether there is a higher prevalence for obesity in transfeminine and transmasculine persons at different age groups has not yet been systematically studied.Methods: We performed a systematic literature search using Pubmed and Google Scholar. Following sear...

Introduction: Up to now, no systematic literature review has studied whether overweight or obesity compared to normal weight in childhood and adolescence is associated with an increased fracture risk (fractures overall and by site).Methods: The systematic literature search was conducted in PubMed/Medline, Embase, Cochrane Library, BIOSIS databases using defined keywords and MeSH terms. 1,677 publications were identified ...

Background: The recommended capillary TSH cut-off level for neonatal screening for congenital hypothyroidism (CH) in the UK is 10 mIU/l. However several of the regional screening laboratories have adopted lower cut-off limits in order to increase detection sensitivity. There is now pressure to standardise the UK screening programme with universal adoption of the recommended cut-off. Scotland has been using a cut-off of 8 mIU/l since the adoption of AutoDELFIA TSH screening met...

Introduction: Aromatase excess syndrome (AEXS) is a rare, autosomal dominant disorder, characterized by enhanced extraglandular aromatization of androgens and estrogen excess. Genomic rearrangements in chromosome 15q21 are found to result in overexpression of the aromatase gene CYP19A1. In males it is characterized by pre- or peripubertal gynecomastia, hypogonadotropic hypogonadism, advanced bone age and short adult height. Only a few female patients have been...

Since CGM-based outcomes that are increasingly being used in clinical pediatric diabetes research, this study was aimed at gathering normative sensor data in healthy, non-diabetic children using the recently approved DexCom G6 system. In this multicenter study, healthy, non-diabetic children and adolescents (age 7 to <18 years, BMI between 5th and 85th percentile, and HbA1c <5.7%) were included. Each participant wore a blinded DexCom G6 for approx. 10 days and kept a d...

Background: The melanocortin-4-receptor (MC4R) plays a key role in body weight regulation. Hypothalamic activation of MC4R reduces food intake and increases energy expenditure. Mutations in the MC4R gene lead to the most common cause of monogenetic obesity. More than 150 different mutations are currently known. Their prevalence in obese subjects differs between 0.2 and 5.8%, depending on ethnicity, age and grade of obesity of the analysed cohort. Impact on phenotype a...