ESPE Abstracts

Background: Beta-tumour cells (βTC) are a group of highly differentiated beta cell lines derived by expression of the SV40 T antigen (Tag) oncoprotein under control of the insulin promoter in transgenic mice. βTC-6 cells exhibit glucose stimulated insulin secretion which makes them a valuable tool in understanding the mechanisms that regulate insulin secretion.The CRISPR/Cas9 genome-editing platform is a versatile and pow...

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused by the disruptio...

Background: Childhood type 1 diabetes (T1DM) is associated with poor quality of life and significant family burden. Children, parents, extended family members and teachers were invited to a novel 2 day structured educational programme, ‘Pump SchooI’, delivered by a Consultant Led multidisciplinary team. Each Pump School included two age-matched children.Objective and hypotheses: To evaluate the effect of continuous s.c. insulin infusion (CSII) ...

Vosoritide is a C-type Natriuretic Peptide (CNP) analogue therapy for treatment of achondroplasia. Vosoritide acts on growth plate chondrocytes through the Natriuretic Peptide Receptor-B to stimulate increased endochondral bone growth, leading to increased growth velocity in treated subjects. In Phase II clinical studies, subject blood and urine samples were analyzed to monitor putative bone growth biomarkers including cross-linked C-terminal telopeptides of collagen II (CTxII...

GX-H9 is a long-acting form of recombinant human GH under clinical development for both adults and children with GH deficiency (GHD). This study was designed to compare 12-month effects of once-weekly and twice-monthly (every other week; EOW) administration of GX-H9 treatment to that of Genotropin®, in pediatric patients with GHD. A randomized, open-label, active-controlled, parallel study was conducted at 27 endocrinology centers in 10 countries (Europe and Ko...

Background: Long-term glucocorticoid therapy with Prednisolone or Deflazacort has improved outcomes in patients with Duchenne Muscular Dystrophy (DMD), however recommended dosages suppress the hypothalamic-pituitary-adrenal axis, leading to adrenal insufficiency. All boys prescribed glucocorticoid therapy should be assumed to have adrenal suppression, and therefore at risk of adrenal crisis during illness or stress (eg. surgery, bisphosphonate infusions). The ...

Background: Most published studies on 46,XY DSD focused on genetic findings without association with biochemical work-up.Objectives: To retrospectively analyze the clinical and genetic findings of a large cohort of 46,XY DSD patients.Methods: 285 non-syndromic 46,XY DSD individuals (192 sporadic and 89 familial cases) were studied. LH, FSH, testosterone (T), androstenedione (A) wer...

Background: 46,XY gonadal dysgenesis (GD) is a spectrum disorder which lead to variable degrees of atypical external genitalia, ranging from female to micropenis and absent of gonadal tissue (known as Embryonic Testicular Regression Syndrome -ETRS). Most patients with 46,XY GD remains without a molecular diagnosis.Objective: To report the DEAH-box helicase 37 gene (DHX37) as a novel candidate for the GD etiology.Patients a...

Background: PCC and PGL are rare in CYP. National children’s registry data reveal an annual incidence of 0.2 and 0.3 per million in 5–9 and 10–14 year age groups respectively. Almost all result from a genetic predisposition, can present with non-specific symptoms, and represent a significant management challenge.Aims: We aimed to provide the first interdisciplinary national management guidelines using the AGREEII framework for CYP with con...

Background: Insulin resistance occurs in a variety of common endocrine disorders including obesity, type 2 diabetes, polycystic ovarian syndrome, and metabolic syndrome. Additionally, rare syndromes exist that result in extreme insulin resistance. These conditions help contribute to our knowledge of the mechanisms of insulin signalling and resistance.Objective and hypotheses: We report a case of a 12 year old female presenting to endocrinology clinic for...