ESPE Abstracts

Background: Silver Russell syndrome (SRS) is characterized by low birth weight, severe postnatal short stature and distinctive facies. In ~50% of patients, (epi)genetic alterations can be detected (~40% hypomethylation of H19 on chromosome 11, ~10% maternal uniparental disomy (UPD) 7). As SRS patients are usually born small for gestational age (SGA), they are treated with GH to improve height. However, data on long-term effects of GH treatment in SRS patients are very limited....

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...

Background: Inappropriate management of illness/stress, accidental or deliberate insulin omission are some of the causes of Diabetes ketoacidosis (DKA) in patients with established diabetes. During illness, patients with type 1 diabetes are advised to monitor for hyperglycaemia and ketosis, maintain fluid intake and if required, to administer supplemental insulin. Previous studies have confirmed that comprehensive diabetes self- management education (DSME) programs on manageme...

Background: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, with an incidence of 1:3000 neonates, and one of the most frequent preventable causes of mental retardation worldwide. Most (65%) cases of primary permanent CH are due to thyroid dysgenesis (TD). However, a genetic cause is identified in less than 5% of CH due to DT.Methods: We performed WES (Whole Exome Sequencing) for siblings with childhood-onset TD and we analy...

Background: Disorders related to an impairment in parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that now encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and an in vitro assay of Gs&#9...

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

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...

Acanthosis nigricans is a common skin presentation of insulin resistance. We may observe different forms of its sevirity. Pathogenesis of this disorder is correlated with an action of insulin to keratinocyte and dermal fibroblasts via interaction with IGFR1.We'd like to present a medical history of two patients admitted to our clinic because of severe acanthosis nigricans. Boys were at the age of 13 and 14 years. We diagnosed carbohydrate metabolism ...

Background: GH treatment is effective in improving adult height (AH) in short children born Small for Gestational Age. If SGA children are short at the start of puberty, they could benefit from combined GH/GnRH Analogue (GnRHa) treatment.Objective and hypotheses: To determine the timing and progression of pubertal development in short SGA children, comparing GH treatment with combined GH/GnRHa treatment.Method: For the present stud...

Background: There are currently no specific growth charts for use in Nigerian children over the age of 5 years. Health workers rely on charts developed by the Center for Disease Control for children in USA (2000CDC US) or the UK 1990 growth charts for British children. It is unknown whether Nigerian children grow to the same height or at the same tempo as American or British children.Objective and hypotheses: To compare the growth of the Nigerian child t...