ESPE Abstracts

Introduction: Prohormone convertase (PC) is a calcium-dependent serine endoprotease. PC 1/3 is responsible for converting hormones and neuropeptitids which has role on energy homeostasis, food intake,glucose metabolism (a-MSH, CART, NPY, AgRP, Orexin, Hypocretin, Ghrelin, insulin, cholecystokinin, GLP-1, GHRH, GnRH, ACTH, TRH) from proforms to active form. PC 1/3 deficiency’s clinical signs are diarrhea that started in the newborn period, obesity, hypoglycemia, multiple ...

Background: Vitamin D, mainly important in calcium phosphate homeostasis and bone health, has been recently suggested as an important factor in pathogenesis of numerous chronic conditions such as type 2 diabetes, metabolic syndrome and polycystic ovarian syndrome (PCOS).Objective and hypotheses: The aim of this study is to investigate the relation between PCOS and premature adrenarche (PA), suggested as predictor of PCOS.Method: A ...

Background: Disorders of Sex Development (DSD) comprise several phenotypes due to dysfunction in genes involved in human sexual determination and differentiation. The most frequent aetiologies among 46,XY DSD are androgen insensitivity syndrome and 5-alpha-reductase type 2 deficiency due mutations in AR and SRD5A2 genes, respectively.Objective and hypotheses: The purpose of this study was to investigate mutations in AR and ...

Background: Type1 diabetes mellitus is increasing worldwide in childhood. Education is an essential part of the package care at diagnosis. It adresses children with newly diagnosed type 1 diabetes and their families and is made by young doctors and paramedical staff (nurses and nutritionnists).Objective: to assess the knowledge of the medical and paramedical staff concerning the global management of type 1 diabetes in ch...

Background/Aim: Several criteria for the first year growth response (FYGR) to growth hormone (GH) treatment have been proposed. We explored which FYGR criteria predict best the final height outcome after GH treatment in prepubertal children with GH deficiency (GHD).Methods: Height data of 129 GHD children (83 boys) treated with GH for at least 4 consecutive years with at least 1 year before pubertal onset, were retrieved...

Background: NKX2-2 gene mutation (reported in 3 cases worldwide) cause severe IUGR and neonatal diabetes. Beta-cells of the mice Nkx2-2 (−/−) model were recently shown to convert into cells producing the appetite-promoting peptide ghrelin. Classically, ghrelin secretion is stimulated during fast and suppressed by nutrients or glucose ingestion in all age groups. In obese children this ghrelin suppression reaches a minimum of 60% of base...

Background: Patients with hyperinsulinism (HI) and anterior hypopituitarism often present in the new-born period (NBP). However up to 30% patients with HI and an unknown number with hypo-pit will present in the first year of life. Despite advances in care the long-term neurological outcome for patients with HI is poor in 20-40% cases.Aim: To retrospectively evaluate the care given during the NBP in a series of patients diagnosed with late presenting pote...

Background: Gonadotoxic cancer therapy may cause adult male infertility. We previously reported that, of 2/3rds of underage males agreeing to pre-treatment sperm cryopreservation before cancer treatment, 2/3rds succeeded.Objective and hypotheses: i) To evaluate how many patients banking sperm successfully (GP1) returned for post treatment re-evaluation compared with those who attempted but failed (GP2). ii) To compare intergroup survival and fertility ra...

Background: Traumatic brain injury (TBI) is common in childhood but long-term endocrine consequences are yet to be documented by prospective data.Objective and hypotheses: We have previously demonstrated in prospective study that, 1 year after severe accidental TBI (ATBI) or inflicted TBI (ITBI), children and adolescents may present pituitary and growth hormone (GH) dysfunction. We present here the follow-up of this population to determine whether or not...

Background: Carbohydrate counting is essential in diabetes management to match insulin doses to carbohydrate intake. Though recommendations concerning macronutritient composition exist (ISPAD Clinical Practice Consensus Guidelines 2022: Nutritional management in children and adolescents with diabetes), fat and protein intake is usually not calculated. Therefore, little is known if these recommendations are followed. Lower carbohydrate intake is reported to be ...