ESPE Abstracts

Background: There are few reports describing proximal deletions of chromosome 20p, making it difficult to predict the likely consequences of the deletion in this area. One report has described a proximal 20p11.2 deletion associated with panhypopituitarism, craniofacial dysmorphism, a small phallus with a semi bifid scrotum, and bilateral widely separated first and second toes. The only other report has demonstrated neurodevelopmental abnormalities associated with band 20p11.2 ...

Background: Septo-optic dysplasia (SOD) is a congenital affection characterized by classic triade: optic nerve hypoplasia, hypothalamic-pituitary endocrine deficits and mdline abnormalities of the brain. It is typically diagnosed in infancy and has a variable presentation.Case presentation: The patient is an 5 year old Algerian girl. At birth, bilateral congenital nystagmus and strabism was noted? Right blindness was suspected by parents at age of 2 year...

Background: Primary IGF1 deficiency (PIGFD) is a rare condition defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. PIGFD is an approved indication for treatment with recombinant IGF1 (rIGF1). Its genetic causes remain largely unknown.Objective and hypotheses: To elucidate genetic causes of PIGFD.Method: Clinical phenotyping followed by trio-based whole-exome sequencing (WES) in 11 complete...

Background: Ttf1−/− mice had complete absence of follicular and parafollicular cells, agenesis of lung parenchyma, ventral forebrain, and pituitary. Congenital hypothyroidism (CH) patients with chromosomal deletions encompassing the TTF1 locus and point mutations in the TTF1 gene confirmed its implication in the phenotype: CH with a thyroid gland in place, associated with respiratory distress syndro...

Background: Endocrine-disrupting chemicals (EDCs) are serious and urgent threats to public health, due to the potentially serious adverse effects of EDCs on endocrine processes during susceptible periods of human development.Objective: To evaluate the levels endocrine disruptors at gestation.Material and methods: A pilot study. Data were obtained from 30 pregnant mothers recruited ...

Background: Various aspects of IGF1R defects have been analysed to date, but the effects of IGF1R haploinsufficiency bone status and metabolism were rarely investigated.Objective and hypotheses: To study bone metabolism and structure in a case of Insulin-like growth factor-I (IGF-I) receptor (IGF1R) gene deletion.Method: Genetic analysis, GH stimulation, rhGH treatme...

Insulin resistance and hepato-visceral (central) fat excess are thought to contribute to an earlier timing of adrenarche/pubarche and puberty/menarche; this earlier timing in turn relates often to a mismatch between pre- and postnatal weight gain, which can be estimated by calculating the Z-score change from birth weight (BW) to body mass index (BMI) in childhood. We tested the hypothesis that this calculation may serve as a proxy of insulin resistance and hepato-visceral adip...

Background: Preterm birth is associated with hypertension and increased fat contents in later life. Salt sensitivity (SS) could be a mechanism underlying this relationship. In adults SS has been recognised as a cause of hypertension that is related to low birth weight and obesity.Objective and hypotheses: We studied the prevalence of SS in 7–8-year old children born <32 weeks of gestation and/or with a birth weight <1500 g as well as its rel...

Introduction: Prader-Willi Syndrome (PWS) is the most frequent cause of genetic obesity. It has been described that these patients require a reduction in caloric intake of 20- 40% compared to general population. Since 2000, with the approval of growth hormone (GH), the evolution of obesity has changed and it seems that caloric requirements could be different.Methodology: Observational, descriptive, cross-sectional and re...

Background: Fifteen years ago children born very preterm (<32 weeks of gestation) were reported to be insulin resistant. Neonatal intensive care has since improved considerably, but it is unclear whether this has affected long-term outcomes in those born preterm. Abnormalities in gut microbiome, which influence host metabolism, have been found in preterm newborns.Objective and hypotheses: We aimed to assess whether children born very preterm still ha...