ESPE Abstracts

Background: Hypogonadism is one of the major diagnostic criteria of Prader-Willi syndrome (PWS). A hypogonadotropic hypogonadism is often present as a result of hypothalamic dysfunction (together with other hormonal disorders, such as growth hormone deficiency and hypothyroidism).Presentation: A 8.5-year-old boy with genetically-confirmed PWS (maternal uniparental disomy) presented in our Endocrinology Unit for routinely follow-up. Therapy with rhGH was ...

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Growth retardation is a common finding, due to recurrent severe infections and inflammatory complications. Bone marrow transplantation (BMT) can lead to stable remission, with overall pediatric survival rates > 90% after non-myeloablative conditioning transplants. As reported in previous studies, growth rates in CGD recovered following BMT.<strong...

Background: Kallmann syndrome (KS) is a genetic disorder, mainly characterized by the association of anosmia (due to hypo/aplasia of the olfactory bulbs) and hypogonadotropic hypogonadism (due to GnRH deficiency). Both partial or complete forms are described. Other features (skeletal and renal malformations, deafness, bimanual synkinesis) can be variably associated. Behind this phenotypic heterogeneity, there is a considerable complexity of genetic mutations. KAL1, <e...

Background: Short stature is a main feature of Noonan syndrome (NS). Although rhGH is commonly used in NS patients, it is not known whether a defect in the secretion of GH influences the response to rhGH therapy.Objective and hypotheses: The aim of this study was to evaluate the efficacy and safety of rhGH treatment in NS patients, according to the presence of GH deficiency at the baseline.Method: We retrospectively collected data ...

Background: HbA1c was recommended as diagnostic tool in adults at risk for diabetes. In obese patients, HbA1c shows an association even with other features of metabolic syndrome. However, its value in pediatric population for this purpose has yet to be established.Material and methods: We determined HbA1c (IFCC method) in 307 overweight/obese children and adolescents (age 11.4±3.2; range 3.0–17.9 and BMI 27.9±4.7; range 20.4–47.6) val...

Background: Noonan syndrome (NS) is a congenital polymalformative disorder caused by aberrant up-regulated signalling through RAS GTPase. Although NS is associated with hematologic malignancies, no predisposition for neuronal tumors was reported so far.Objective and hypotheses: We describe two cases of young patients with NS and dysembryoplastic neuroepithelial tumor (DNET). This is the first case series reporting a rare type of intracranial tumor in NS....

Background: The prevalence of dysglycaemia is high among overweight children and adolescents. Current screening criteria with fasting laboratory values have low sensitivity to detect IGT. Fasting triglycerides (TG) >1.17 mmol/l has been proposed as a criterion for screening obese children and adolescents at risk for IGT.Aims and objectives: We aimed to compare the performance of different screening criteria for detecting IGT in obese and overweight c...

Background: Short stature is one of the most common presentations to paediatric endocrinologists. It is estimated that despite all the exams, in 50–90% of cases, children are labeled as having idiopathic short stature. It has been recently reported that genetic ACE2 deficiency is associated with reduced body weight as well as with impaired gestational weight gain and fetal growth restriction in pregnancy. It has been argued that ACE2 deficiency, which...

Background: G, male, was born at 39 GW by emergency CS from non-consanguineous parents. Prenatal US showed growth at lower limits of normal from 22 GW, short limbs and polyhydramnios. Amniocentesis karyotype was 46,XY. At birth weight and length were <3rd percentile, head circumference was between 10 and 25th percentile. At physical examination: short limbs, short neck, cryptorchidism, and microphallus. Early the baby presented mild respiratory distress and a severe episod...

Background: In 2003 recombinant human growth hormone (rhGH) was approved by European Medicines Agency to treat short children born small for gestational age (SGA), but so far no study evaluated the prevalence of SGA children with short stature who qualify for rhGH treatment in Europe.Objectives: To investigate the prevalence of SGA and short stature in children born SGA and of SGA children who qualify for rhGH treatment ...