ESPE Abstracts

Background: We have proposed a simple and comprehensive scoring system to evaluate clinical features of differences/disorders of sexual development (DSD); however, its clinical evaluation has not been performed.Aim: To evaluate the association between this newly proposed DSD scoring system (DSD-SS) and assigned gender in patients with 45,X/46,XY mosaicism.Methods: DSD-SS involves e...

Introduction: Term newborns Small for Gestational Age (SGA) have an increased risk for minor neurological impairment at pre- and school age. The general movements (GMs) assessment, in particular at Fidgety (F+) age, has been increasingly used to predict neurological dysfunctions. Aim of our study was to evaluate, in a population of term newborn SGA (gestational age >37 weeks) the growth recovery, the presence of F+ at 3 months of age, and the neurological outcome at 2 year...

Introduction: Consensus guidelines (2021) state that a second dry blood spot (DBS) should be considered for newborn screening (NBS) in preterms (delayed TSH rise).Objective: To evaluate the diagnostic yield of an NBS strategy including a second DBS at 14 days in preterms.Material and Methods: Retrospective study of 2 cohorts. Cohort 1: live births <37 weeks of gestational age (G...

Background: Data on the course of puberty and pubertal growth in boys with Type 1 diabetes (T1D) are sparse.Objectives: To study the course of puberty, pubertal growth and final height in boys with T1D as well as possible factors affecting these.Methods: In this retrospective longitudinal study, 68 boys diagnosed with T1D between 1996-2009 who were pre-pubertal at diagnosis and had...

Background: Premature adrenarche (PA) has been associated to increased metabolic risk. Areas of controversy regarding associated co-morbidities are precocious pubarche, PCOS and lower birth weight, which may depend on ethnic background.Objective and hypotheses: To describe the risk of precocious thelarche (PT, <8 years), pubarche (PP, <8 years F, <9 years M) and gonadarche (PG, <9 years) in children with premature adrenarche.<p class=...

Pro-opiomelanocortin (POMC) and the melanocortin-4-receptor (MC4R) are playing a key role within the leptin-melanocortin-pathway and thereby for satiety regulation. Mutations within these genes are leading to hyperphagia and early-onset obesity. However, observations of cardiac abnormalities including left ventricular dilatation and reduced contractibility in the MC4R knockout mouse model and reports about a reduced blood pressure in human MC4R variant carriers, led us to inve...

Background: Very tall people attract a lot of attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth.Methods and Results: We studied a three-generation pedigree with several isolated (non-syndromic) tall members by whole exome sequencing; the tallest man had a height of 2...

Background: Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycaemia and is due to the unregulated secretion of insulin from the pancreatic β-cells. The role of glucagon like peptide-1, gastric inhibitory polypeptide (GLP1/GIP), and dipeptidyl peptidase-4 (DPP4), is currently unknown in patients with CHI.Objective and Hypotheses: To understand the expression pattern of DPP4 in focal and diffuse disease CHI.<p class="ab...

Background: Congenital hyperinsulinism (CHI) is the most important causes of persistent hypoglycemia in infants during the first few days after birth.Objective and hypotheses: We report an 11-day-old female infant admitted with persistent hypoglycemia since 11 h after born.Method: Multiple tests and imageological examinations were used to detect the cause of hypoglycemia. A whole-body PET CT-scan with [⊃F]-L-di...

Background: The age at weaning programs life history adaptively. Shorter infancy resulted in longer/thinner animals with a reproductive-strategic shift to earlier physical and sexual development (BMC Med, 2013).Hypotheses: The length of infancy impacts also the stress-response and has behavioural consequences.Method: Sprague-Dawley pups (generation F1), which usually are weaned at age 21 days, were weaned by cross-fostering at age ...