ESPE Abstracts

Background: The goal of treatment in children with hypophosphatemic rickets (HR) attempts to correct growth and leg deformities. However, growth is compromised despite treatment and patients are at risk of developing nephrocalcinosis in the future. Some factors (sex, age and height at diagnosis) have been related to height outcome, but little is known about the impact in growth of different dosage of treatment or alkaline phosphatase (ALP) levels.Objecti...

Background: In rodents, fibroblast growth factor 21 (FGF21), an endocrine member of the FGF family, is mainly produced in the liver and promotes glucose oxidation in several tissues; the circulating concentrations of FGF21 rise shortly after birth. In the human, the ontogeny of circulating FGF21 is essentially unknown.Objective and hypotheses: To assess whether there is also a neonatal surge of circulating FGF21 concen...

Background: The majority of drug developments in type 1 diabetes (T1D) are aimed at preventing decline of beta cell function (BCF), as this has been associated with better glycaemic control and fewer long-term complications. Traditionally, BCF is evaluated by the C-peptide response to the labour-intensive mixed-meal-tolerance-test (MMTT), but there’s a need for a more practical alternative. We developed a new method to measure C-peptide in ‘dried blood spots’ (D...

Background: Excessive energy intake and rapid weight gain early in life are associated with obesity, type 2 diabetes, hepatic steatosis and other features of the metabolic syndrome. The monoacylglycerol acyltransferase (MGAT) is an enzyme involved in an alternative pathway for triglyceride (TAG) synthesis and storage. It has been recently proposed to have potential implications in the pathogenesis of hepatic insulin resistance (IR).Objective: To understa...

Background: Precocious puberty, pubertal development in girls before 8 years, has considerable biological, psychosocial, and long-term health implications. It is classically ascribed to the premature activation of the hypothalamic-pituitary–gonadal axis, and hence an LH response >5 U/l in the LHRH test. Whilst this group of patients is well understood, there is a paucity of literature characterising patients who show pubertal development not driven by LH, atypical pre...

Background: Polycystic ovary syndrome (PCOS) continues to be a diagnostic challenge in adolescent girls. Symptoms like oligomenorrhea and acne, and polycystic ovarian morphology on ultrasound can be normal variants in adolescents. In addition to diagnostic difficulties, there is lack of randomized controlled trials for PCOS treatments specific to adolescents. Current guidelines for diagnosis and management of PCOS in adolescents have large variations and rely ...

Background: Management of SIADH is challenging and no optimal therapies are available in children. We present a case of an 11 years old boy with severe SIADH resistant to 30% fluid restriction in the context of an intracranial suprasellar high grade B-cell lymphoma who requires hyperhydration for chemotherapy protocol. Tolvaptan is an oral highly selective arginine vasopressin V2 receptor antagonist, which has been approved for use in SIADH in adults.Obj...

Introduction: Worldwide the Short Synacthen Test (SST) is the most popular diagnostic investigation for adrenal insufficiency (AI) amongst both paediatric and adult endocrinologists. Cannulation and blood sampling are required making it invasive, time-consuming and resource-intensive. We have previously validated a reliably absorbed and well tolerated formulation of nasal synacthen (Nasacthin003) in healthy adult males, measuring the glucocorticoid response in salivary cortiso...

Background: Telomere length at birth is a major determinant of telomere length in late adulthood. However, the prenatal setting of telomere length is poorly understood. Individuals born large from non-diabetic mothers are at lower risk for later-life disorders than those born small, a feature of their longer health span being a higher lean mass that provides more muscle strength and that is already present in infancy.Objective, hypotheses & methods: ...

Introduction: Adolescent polycystic ovary syndrome (PCOS) is characterized by androgen excess and oligo-amenorrhea, and often results from ectopic lipid storage due to a mismatch between early adipogenesis and later lipogenesis. Endogenous HOTAIR and exogenous pioglitazone are enhancers of subcutaneous adipogenesis, particularly in the gluteofemoral region. The A allele of HOTAIR rs1443512 is an equivalent of a natural knock-down and is thus a candidate to inf...