ESPE Abstracts

Introduction: Primary Congenital Hypothyroidism (CH) is an abnormal function of the thyroid gland present at birth. Anomalies of thyroid function are usually classified between thyroid dysgenesis, corresponding to an abnormal embryological development of the thyroid, and CH with gland-in-situ (GIS), resulting from mutations in genes involved in thyroid hormone synthesis. We report 105 patients with CH with GIS that have been referred to Angers University Hospi...

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by hyperphagia and abnormal behaviours towards food for both of which no approved treatment is available. Elevated plasma acylated ghrelin (AG) documented at all ages in PWS suggest that the ghrelin system may contribute to the pathophysiology of hyperphagia. Administration of unacylated ghrelin and 8-amino acid analog AZP-531 prevents AG-induced food consumption in animals and improves glucose co...

Background: More than half of newborns with central congenital hypothyroidism (C-CH) have moderate-to-severe hypothyroidism in the neonatal phase, requiring immediate thyroxine therapy to prevent brain damage. The Israeli newborn screening for CH is based on the measurement of total T4 (TT4) followed by TSH measurement. However, when TSH is within the normal range the physicians are not informed of the results and therefore the diagnosis of C-CH and initiation...

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, a typical phenotype and feeding difficulties. It is related to 11p15 ICR1 hypomethylation in up to 50% of the cases. Some patients may exhibit signs of early puberty or premature adrenarche, including premature pubarche and/or an exaggerated adrenarche (high dehidroepyandrosterone sulfate (DHEAS) levels for chronological age). Despite early feeding difficulties, some ch...

Data on the birth parameters of patients with growth hormone deficiency are contradictory; recent studies suggest that congenital growth hormone deficiency is associated with impaired fetal growth. The main objective of this study was to describe the birth parameters of children with GH-1 gene deletion.This study included 13 patients (of 10 families) for whom a homozygous (or compound heterozygous) deletion of the entire GH1 gene has been identi...

Background: Genomic imprinting is an epigenetic mechanism referring to the monoallelic silencing of genes according to their parental origin. Human chromosome 11p15.5 encompasses two imprinted domains (ICR1 and ICR2) playing an important role in controlling fetal and postnatal growth. Genetic (uniparental disomy or gain/loss of function mutations) or epigenetic alterations at the 11p15.5 imprinted region (loss or gain of DNA methylation) are associated with two clinical disord...

Background: Rathke’s cleft cysts (RCC) are benign lesions of the pituitary gland, remnants of Rathke’s pouch. RCC have rarely been reported in children and adolescents and are usually known as asymptomatic but some cases may be associated with hormonal disturbances.Objective and hypotheses: The aim of the study was to assess the characteristics and frequency of endocrine disturbances in children with RCC.Method: We retros...

Background: Ovotesticular disorder of sex development (DSD) is characterized by the presence of both testicular and ovarian tissue in the gonads of an individual. Selective gonadal surgery is usually performed in infancy.Objective and hypotheses: Little is known about the long-term outcome of conservative gonadal surgery in ovotesticular DSD. We present our experience in a 46,XX girl diagnosed in the neonatal period.Method: The pat...

IGF2, a major actor which stimulates feta growth, is located within the imprinted 11p15 region, and 11p paternal duplications are usually associated with Beckwith Wiedemann syndrome, a rare condition usually associated with overgrowth. The IGF type 1 receptor binds both IGF-I and IGF-II to promotes cell proliferation and growth, and the IGF1R gene is located at chromosome 15q. Patients with deletions or mutations of IGF1R usually present with intraut...

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder, which remains a clinical diagnosis. The Netchine-Harbison clinical scoring system (NH-CSS), recently adopted by the first international consensus on SRS, defines SRS with at least 4 of the 6 following criteria: born SGA, postnatal growth retardation, relative macrocephaly at birth, prominent forehead, body asymmetry and early feeding difficulties. It is related to 11p15 ICR1 loss ...