ESPE Abstracts

Introduction: Statural growth is regulated by multiple genetic, epigenetic and environmental mechanisms. The GH-IGF-1 axis was long believed to be the main linear growth regulator in children until more recent studies showed that the complex regulation of growth plate chondrocytes play an equal role. In order to extend our knowledge about the genes involved in short stature, we studied a unique cohort of children with short stature from consanguineous families...

Objective: To assess the characteristics of thyroid nodules among infants diagnosed with congenital hypothyroidism and to discuss the interest of a systematic screening.Material and method: A retrospective study of children with congenital hypothyroidism due to dyshormonogenesis was carried out at the pediatric endocrine center in Kremlin Bicêtre hospital, Paris, between 1999 to 2020. A screening ultrasound for thyroid nodules was t...

Context: Newborns with Congenital hypogonadotropic hypogonadism (CHH) have an impaired postnatal activation of the gonadotropic axis. Substitutive therapy with recombinant gonadotropins can be proposed to mimic physiological male mini-puberty during the first months of life.Objective: To retrospectively compare the clinical (penile size, volume and testicular descent) and biological efficacy (serum concentrations of test...

Background: Newborn screening for congenital adrenal hyperplasia (CAH) has been shown to reduce time to diagnosis, and thus morbidity and mortality. Internationally, newborn screening for CAH continues to expand and screening techniques have improved, with the implementation of second-tier testing and use of gestational age stratification. The aim of this study was to examine the incidence and spectrum of early clinical presentations of CAH in an unscreened po...

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 ...

Summary: Severe obesity with various complications is a growing public health problem in childhood. Due to the lack of available hygienic and dietary therapeutic solutions, bariatric surgery has become, in recent years, one of the only effective treatments for severe obesity to induce persistant weight loss and reduce complications.Material and method: We analyzed a cohort of 162 patients followed in the specialized obes...

Children with ISS vary in their response to GHT. We conducted a post hoc analysis to identify clinical characteristics associated with very good or poor response during year 1 of GHT in a subset of 1550 GH naïve children with ISS from NordiNet® IOS (NCT00960128) and the ANSWER Program (NCT01009905). We included patients aged 3–11 years (males) or 3–10 years (females) at treatment start, prepubertal throughout year 1 of treatment, with height SDS...

Introduction: Linear growth is a complex process involving the interplay of genetic, epigenetic, and environmental factors. Current knowledge sheds importance to the GH-IGF-1 axis, chondrocyte regulation and extra-cellular matrix in the growth plate, and other fundamental intracellular processes. Despite these advancements, the genetics of short stature are not fully understood. This study aims to contribute by investigating a unique cohort of children from co...

Introduction: Monogenic diabetes has been estimated to be 1 - 6% of all diabetic cases in European countries which are primarily non consanguineous populations, while the incidence in highly consanguineous areas is insufficiently defined. However, the genetic aetiology of monogenic diabetes has been shown to be widely different in areas with prevalent consanguinity compared to areas with lower rates. In this single-centre study, we aimed to evaluate the preval...

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...