ESPE Abstracts

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

Introduction: 46,XY gonadal dysgenesis (GD) represents a heterogeneous group of disorders/differences of sex development (DSD) characterized by abnormal gonadal development leading to a wide phenotypic spectrum. Variable degrees of external genitalia undervirilization are observed, ranging from micropenis to female-like genitalia and partially or fully-developed Mullerian derivatives.Case Report: A 6 years-old boy follow...

Introduction: No consensus on vitamin D (VitD) deficiency screening in children and adolescents exists.Aim: To evaluate a sample of patients in whom VitD dosing was performed and determine the rationale for this assessment.Methods: Retrospective, longitudinal study of pediatric patients, from a Portuguese tertiary hospital, who had at least two 25(OH)D level blood sampling between ...

Background: Genetic causes of central precocious puberty (CPP) has been increasingly recognized, extending our knowledge of the triggering factors of human pubertal timing. Distinct etiologies remain to be elucidated in sporadic and familial cases. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated protein that can activate or repress gene transcription, playing a role in neuronal maturation. It is encoded by MECP2 gene located at chromoso...

Background: Disorders related to an impairment in parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that now encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and an in vitro assay of Gs&#9...

Background: Rare metabolic bone diseases (RMBD) are at the crossways of Endocrinology, Nephrology, Orthopaedic surgery and Rheumatology. Most of RMBD lead to short stature, bone pain, tooth anomalies, leg deformities, bone fragility and disability of variable importance. The organization of care varies immensely amongst European countries. Several European networks dedicated to RMBD already exist, supported by societies such as ESPE, ECTS or research grants, albeit their focus...

Background: Adult height prediction models (AHP) were designed several decades ago based on the Caucasian population, hence they are not adapted to our population’s characteristics and secular changes. Technological advances have improved the accuracy of bone age (BA) reading through automated analysis, which has been incorporated into new AHP models, but have not been evaluated in the Mexican population.Objective:...

Introduction: Diet plays a key role in the management of type 1 diabetes (T1D), thus nutritional education is a cornerstone in T1D therapy. The integration of nutrition knowledge into nutritional behavior may help parents inculcate a healthy lifestyle to their children. However, parents' diet and its potential impact on metabolic control of the disease of their children have been scarcely analyzed. This study was aimed to examine whether parents' foo...

Introduction: To achieve glycemic control goals in patients with type 1 diabetes (T1D), they are instructed in three fundamental principles: diet, insulin therapy and physical activity. Physical activity recommendations for children and adolescents with T1D are the same as for the general population. Following the physical activity recommendations helps mitigate the increased cardiovascular risk inherent to DM. We set out to explore the degree of glycemic cont...

Congenital hyperinsulinism (CHI) is an ultra-rare disease characterized by excessive insulin secretion that results in persistent hypoglycemia. If left untreated, CHI-induced severe prolonged hypoglycemia may lead to permanent neurologic damage. Currently used pharmacologic agents fail to prevent hypoglycemia in a subset of patients with CHI. HM15136 is a novel long-acting glucagon analogue that have demonstrated good stability and extended half-life ranging from 77 to 167 hou...