ESPE Abstracts

Introduction: Depending on the underlying diagnosis, Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell cancers. To date, however, knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The International-DSD (I-DSD) Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyo...

Background: Children and adults with chronic thyroid disorders (TD) need continuous monitoring as periods of inadequate thyroid hormone substitution can impact metabolism, puberty and fertility. Transition from pediatric to adult-oriented care is often characterized by discontinuity in care resulting in poor health outcomes and impaired quality of life. Transition care (TC) for young adults with TD remains largely unknown.Objecti...

Introduction: The envelope protein of Human Endogenous Retrovirus type W (HERV-W-Env) has been shown to be associated with type 1 diabetes (T1D) pathogenesis in adults patients. This protein is expressed in pancreas of T1D patients and it seems to correlate with macrophage infiltrations. In vitro and in vivo studies have demonstrated that HERV-W-Env inhibits insulin secretion and promotes hyperglycemia. Furthermore, HERV could be implicated in other auto-immune disorders. The ...

Background: Mutations in the gene encoding the Chromodomain Helicase DNA-binding protein 7 (CHD7) are found in 60% of patients with CHARGE Syndrome (Coloboma, Heart Defects, Choanal Atresia, Retarded growth and development, Genital hypoplasia, Ear abnormalities and/or hearing problems) and in 6% of patients with Kallmann syndrome.Objectives and hypotheses: To describe a novel CHD7 mutation and its clinical presentation.<p class="abs...

Introduction: Turner syndrome (TS) association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess 1/ the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients; 2/ the effectiveness of our transition program.Methods: In this multicenter retrospective descriptive cohort study, we col...

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: Bone age (BA) is commonly used in pediatrics to define skeletal maturity for medical and non-medical purposes. Normal range is represented by 2 standard deviations (SDs) above and below the mean. A BA greater than &pm;2 SDs from the chronological age (CA) is considered abnormal. BA in achondroplasia (ACH) has not been fully characterized; calculation is challenging given difficulties in comparing x-rays with standard radiographs if using the Greuli...

Background: Most published studies on 46,XY DSD focused on genetic findings without association with biochemical work-up.Objectives: To retrospectively analyze the clinical and genetic findings of a large cohort of 46,XY DSD patients.Methods: 285 non-syndromic 46,XY DSD individuals (192 sporadic and 89 familial cases) were studied. LH, FSH, testosterone (T), androstenedione (A) wer...

Introduction: Classic congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency results in impaired synthesis of gluco- and often also of mineralocorticoids. Early treatment with glucocorticoids and mineralocorticoids prevents life-threatening crises. In some centres, additional salt is prescribed in the first year. However, until now the use of salt is controversial and not proved to result in better outcome in studies.<s...

Background: Subjects with non classical congenital adrenal hyperplasia (NCCAH) often present an increased growth velocity secondary to elevation of adrenal androgens that promote early bone maturation and compromise final height (FH). The aim of the study was to analyze prognostic factors affecting growth trajectory and FH in children with NCCAH.Design: retrospective, multicentric studyStud...