ESPE Abstracts

Background: Persistent Müllerian duct syndrome (PMDS) is a Disorder of Sex Development (DSD) caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its type II receptor (AMHR2) with autosomal recessive transmission. Objective: To report a case of transverse testicular ectopia (TTE), associated with PMDS, initially presented as an obstructed inguinal hernia.Case presentation: An 18- days- old male infant, wi...

Background: Diabetes ketoacidosis (DKA) is the most severe complication in type 1 diabetes (T1D) but patient education and ketone monitoring may help decrease its frequency. However, the influence on glucose homeostasis of systematic ketone monitoring and of the nature of monitoring (urine vs blood) is unclear.Objective and hypotheses: To determine whether the use of blood ketone monitoring, as compared to urine ketone testing, decreases the duration of ...

Introduction: The metabolically healthy obese phenotype (MHOF) defines obese patients who have preserved insulin sensitivity and who do not have metabolic complications: lower risk of cardiovascular disease and type 2 diabetes in adulthood. Recent studies indicate that TMI (kg/m3) estimates the percentage of body fat more accurately than the BMI and it has been proposed to substitute the use of the BMI z-score values by those of the TMI. TMI values ...

Introduction: Complications are frequently reported post hypospadias repair and there is a need to understand the factors that influence their occurrence.Aim: The aim of this study was to identify the occurrence of complications in boys with hypospadias that are in the I-DSD Registry.Methods: Data from boys born with hypospadias between 2010-2020 were obtained from the I-DSD regist...

Background and Aims: Despite intensive insulin treatment of type 1 diabetes (T1DM), metabolic control remains suboptimal, especially in children. In an attempt to optimize postprandial glycaemia, some families decrease the amount of carbohydrates contained in a meal. While "low-carbohydrate diets" may improve metabolic control in some selected populations, controversies remain around the risk of hypoglycemia and ketoacidosis and the impact of such diet...

Background: The syndrome of Taybi-Linder (TALS) or paramount dwarfism microcephalic of type 1 (MOPD1) is an uncommon illness characterized by an intra-uterine delay of growth, multiple malformations (short members, facial dysmorphie) and especially of the cerebral abnormalities. The infants carrying this disease can live until the age from 2 to 3 years and, often at the time of an infection, their state worsens quickly in a few hours (conscience disorder, convulsions) until th...

Background: The EU-IGFD registry was established to monitor the safety and effectiveness of recombinant human IGF-I (rhIGF-I) (mecasermin (rDNA origin) injection; Increlex®) for short stature in children with SPIGFD, including those with Laron syndrome (LS).Objective: To report patient characteristics, effectiveness and safety data in clinically relevant patient subgroups.Methods: Data were compiled from this ongoin...

Background: The EU-IGFD registry comprises data for children with severe primary IGF-I deficiency (SPIGFD) receiving rhIGF-I (mecasermin [rDNA origin] injection; Increlex®) for growth failure.Objective: To report patient characteristics, effectiveness and safety data for children receiving rhIGF-I for SPIGFD and achieving AH.Methods: Patients from this ongoing observational study (NCT00903110) were included in analy...

Background: A thirty-four months old boy was referred for precocious puberty. He was the first child of healthy non-consanguineous parents. His family history was unremarkable. He had no exposure to oestrogenic endocrine-disrupting chemicals. He had presented secondary sexual characteristics for five months: pubic hair, enlarged testicular volume to 6 ml (Tanner stage P2A1G2) and enlarged penile size. He had a deepening voice and aggressive behavior. He had a significant growt...

Background: The post-authorization registry, EU-IGFD, was initiated in Dec-2008 to collect data in children with growth failure receiving Increlex® (Mecasermin [rDNA Origin] Injection).Objective and hypotheses: To report patient characteristics, safety and effectiveness data in poor-responders (i.e. with change in year 1 Height SDS <0.3).Method: European, multicentre, open-label, observational study; eCRF data collection.<...