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...

Kallman syndrome is defined by the association of anosmia due to an agenesis of the olfactory bulbs and hypogonadotropic hypogonadism due to a GnRH deficiency which is currently explained by a deficit of GnRH neuron migration from the olfactory placode toward the hypothalamus. In fact, the X-linked form of KS is due to loss of function mutations in ANOS1 which encodes an extracellular protein (ANOSMIN) interacting with cell membrane heparin sulfate proteoglycans but a...

Introduction and Objectives: Type 1 DM is a chronic metabolic disease. Its incidence is rising worldwide. We studied demographic criteria, risk factors and epidemiology of children with type 1 DM attending our diabetes control clinic.Methods: This cross sectional study was conducted over 3214 children between 1–18 years who are diagnosed with type 1 diabetes and following up in DEMPU clinic, Cairo university children’s hospital. Between April 2...

Background: Adolescents with Type 1 Diabetes (T1D) have worse metabolic control than preadolescent children due to poor adherence with medications and insulin resistance related to puberty hormones. Adolescent girls are at a particular risk for poor control as insulin sensitivity decreases in the luteal phase and menstrual cycle. Progesterone, secreted in the second half of the cycle, may cause an increase in appetite and caloric intake....

Introduction: Short stature is a very common complication of juvenile idiopathic arthritis (JIA). Chronic inflammation, long-term corticosteroid therapy, hepatic impairment and malnutrition can reduce the biological effects of IGF-1 and GH. Growth hormone (GH) treatment may improve height growth outcomes in patients with severe juvenile idiopathic arthritis (JIA). The aim of the study was to assess the response to growth hormone (GH) treatment in patients with...

Recombinant human growth hormone (rhGH) is approved for short stature associated with growth hormone deficiency (GHD), idiopathic short stature (ISS), Turner syndrome (TS), multiple pituitary hormone deficiencies (MPHD), Silver Russell syndrome (SRS) and being born small for gestational age non syndromic (SGA). Objectives: To assess the clinical effectiveness and cost-effectiveness of rhGH in children with GHD, TS and those born SGA. Methods: ...

Background: Congenital adrenal hyperplasia (CAH) is a pathology with a genetic deficiency of one of the enzymes of steroidogenesis. It is due to 21 –Ohase deficiency in 90–95% of cases. The complete deficiency of this enzyme is responsible for the classic form (sexual ambiguity at birth with or without salt loss). While the partial deficiency results in a polymorphic clinical presentation occurring in childhood or adolescence. In rare neglected cases, the diagnosis i...

Background: Primary hyperparathyroidism (PHPT) in children and adolescents is rare. Sporadic forms are more frequent and correspond, usually, with an adenoma (73%). Most rare familial forms (7%) are related to hyperplasia. They may be isolated or integrate with multiple endocrine neoplasia (MEN). The PHPT is revealed mostly by chronic bone pain increased by pressure, walking and exercise, arthralgia, growth failure and nonspecific late deformities.Object...

Background: GH deficiency (GHD) rarely reveals at birth. Pregnancy is proceeding normally. The size and weight are generally normal and the birth occurs at terms. In some cases, neonatal markers and other pituitary deficits are present and allow early diagnosis.Objective and hypotheses: Report neonatal characteristics of GHD.Method: 107 children GHD were followed. The interrogation noted the progress of pregnancy, childbirth, weigh...

Background: Pituitary adenomas are rare in children. Most of them are found in adolescents. Macroadenomas and secreting adenomas are the most common. They can be sporadic, familial, belong to tumor syndromes and be associated with distinct genetic defects.Objective and hypotheses: Report phenotypic and genotypic characteristics of pituitary adenomas in children.Method: Eight children with pituitary adenoma were identified in 20 yea...