ESPE Abstracts

Background: Alterations in the timing or expression level of players involved in sex determination and differentiation can cause disorders of sex development, gonadal dysgenesis and germ cell neoplasms later in life. The mitosis–meiosis switch is one of the first manifestations of female sex differentiation and we hypothesise that a conflict between meiosis-inhibiting (male pathway) and meiosis-inducing signals (female pathway) is one of the possible mechanisms for disrup...

Introduction: This test assessed the safety and usability of FlexPro® 30 mg/3 ml (Novo Nordisk A/S, Denmark), a pen-injector for injection of human GH in patients with GH deficiency (GHD), Turner syndrome (TS), Noonan syndrome (NS) and children born small for gestational age (SGA), and validated the instructions for use (IFU) and instructional video.Methods: Children with GHD/SGA or TS/NS, adult patients, caregivers of patients with GHD/S...

Background: Anorexia nervosa (AN) is a primary psychiatric disease, complicated by serious endocrine disturbances. Hypogonadotropic hypogonadism with primary or secondary amenorrhea is the most common endocrine repercussion of AN, with consequent estrogen deficiency and concerns about bone mineral density. Furthermore, establishing regular menstrual cycles is considered as one of the important milestones in girls treated for AN.Aim: To quantify the estro...

Background: Growth charts constitute an important tool to monitor a child’s growth and development, and thus detect growth anomalies. Growth assessment allows early referral and management of treatable disorders. In France, the currently used growth reference charts were derived at the end of 1970s, based on children born on 1950s in Paris area. Questions are raised about their use for growth monitoring of more recently born children.Objectives: To ...

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...