ESPE Abstracts

Background: Silver Russell syndrome (SRS) is a rare imprinting disorder with prenatal and postnatal growth retardation and feeding difficulties. The main molecular causes are loss of methylation of the 11p15.5 imprinting control region (H19/IGF2) and maternal uniparental disomy of chromosome 7. Prader-Willi syndrome (PWS) is a complex neurodevelopmental imprinting disorder with neonatal muscular hypotonia, failure to thrive to insatiable appetite, sho...

Background: Severe primary insulin-growth factor-1 (IGF-1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF-1 levels (<2.5th percentile), height ≤ -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: Description of pubertal onset and growth spurt, data on adult or near-adult-he...

Background/aims: The high complexity of Pediatric reference ranges across age, sex and units impairs clinical application and comparability of steroid hormone data, e.g., in CAHs. We developed a Multiples-of-Median (MoM) normalization tool to overcome this major drawback in Pediatric Endocrinology.Methods: LC–MS/MS data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to >16 years) from two previous datasets we...

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF1 levels (<2.5th percentile), height ≤ −3SDS, absence of growth hormone (GH) deficiency and of any secondary causes of growth failure.Objectives: Phenotypic description, follow-up and molecular studies in a cohort of patients diagnosed with growth f...

Background: Pure gonadal dysgenesis 46 XY is a rare form of sexual differentiation disorders.Objective and hypotheses: This study describes the diagnosis circumstances, clinical, biological and radiological presentation, and genetic aetiology of 14 patients with a 46 XY pure gonadal dysgenesis.Method: It is a retrospective descriptive multicenter study from Necker Hospital (Paris) and Lille university hospitals.<p class="abstex...

Case Report: A preterm boy was born at 35 weeks gestational age by cesarean section due to fetal macrossomia and polyhydramnios, weight 4980g (4.3 SDS, Intergrowth 21st), length 53cm (3.1 SDS), 1-min-Apgar 2. He needed resuscitation after birth, and his glycemia was 20 mg/dL. At the Neonatal Intensive Care Unit (NICU), he presented with severe hypoglycemia (10mg/dL) and required intravenous glucose infusion rate (GIR) 10mg/kg/min that increased progressively u...

Introduction: Type 1 diabetes mellitus (1DM) has well known long term vascular and neuropathic complications. It has also been described a positive effect of good glycemic control on physical growth and pubertal development, achieved with improvement of insulin-therapy.Aim: To evaluate the effect of functional insulin-therapy on final height in children with type 1 diabetes mellitus.Methods: Retrospective analysis of a cohort of po...

Introduction: Hypothyroidism is a frequent endocrinopathy in pediatric age. The most common manifestation in children is growth delay with decreased height velocity. Symptoms can be insidious and, if not identified ant treated, result in short stature.Aim: To evaluate stature catch-up after replacement therapy in children with primary acquired hypothyroidism.Methods: Retrospective study of all children with primary acquired hypothy...

Background: GH revolutionised treatment of children with GH deficiency, conditioning an improvement in height outcome but also an increase of lean body mass and reduction of fat mass.Objective and hypotheses: The authors aimed to evaluate the growth and weight response in children with GH deficiency and identify potential factors affecting the outcome of these patients.Method: The growth and weight data of 58 children (33 boys and ...

Background: Central precocious puberty is due to premature activation of the hypothalamo–pituitary–ovarian axis. In girls it is idiopathic in up to 95%. Children with clinical rapid progression are treated with prolonged activity GnRH agonist.Objective and hypotheses: Characterise cases of idiopathic central precocious puberty (ICPP) followed at our hospital comparing the group treated with GnRH agonist (group A) with the group not treated (gro...