ESPE Abstracts

Background: Mutations in PROP1 gene are the most common known genetic cause of multiple pituritary hormone deficiency. It is characterized by somatolactotroph, thyrotroph, gonadotroph and sometimes corticotroph deficiencies and pituitary hyper- or hypoplasia. The karyotype 47,XYY occurrs in 1 in every 1000 live male birth. Some studies report that the phenotype of XYY syndrome includes tall stature, behavioral problems and low fertility.Objectiv...

Background: Only a few case reports have described isolated postprandial hyperinsulinaemic hypoglycaemia (PPHH) in children.Objectives: To describe a single tertiary paediatric centre’s experience in the management of isolated PPHH.Patients and methods: Six children (three females) were identified. A retrospective review of the clinical characteristics, diagnosis, management and follow-up of patients with PPHH was performed. I...

Background: Obesity in childhood and adolescence represents a major public health problem of our century and the leading cause of premature cardiovascular disease (CVD). A moderate elevation of thyroid-stimulating hormone (TSH) concentrations is frequently observed in obese children.Aim: The aim of our study was to evaluate the association of TSH and free thyroxine (FT4) concentrations with the clustering of cardiometabo...

Introduction&Aim: Activation of mechanistic target of rapamycin (mTOR) as a major regulator of adipogenesis and lipid accumulation is controlled by upstream regulators hamartin/tuberous sclerosis complex (TSC) 1 and tuberin/TSC2. Hamartin and tuberin form a protein complex that inhibits signal transduction to mTOR. The impact of TSC1 deficiency is not clearly defined in human adipose tissue. We identified a likely pathogenic TSC1 splicing variant in a lipo...

Background: The method for assessing adipose tissue thickness using ultrasound has been used extensively in sport medicine. However, the reliability of this method in children was not evaluated. We aim to determine the inter-observer reliability in measuring uncompressed subcutaneous adipose tissue thickness (USAT) using ultrasound, in children.Methods: About 40 healthy children (20 male, 20 female), median age 11.8 years (5.3 to 18.1) were evaluated. Me...

Background: Ring chromosome 18 [r (18)] syndrome belongs to a rare group of chromosomal abnormalities (only about 70 cases reported). The association of r(18) and growth hormone deficiency (GHD) is extremely rare (3 descriptions with different responds to GH treatment). Patients with r(18) syndrome are characterized by short stature, obesity, microcephaly, mental retardation, hypertelorism, epicanthic folds, micrognatia and small hands with short tapering fingers. Also atypica...

Background: The development of Cushing’s syndrome from topical corticosteroids in children is rare. It is most often reported in infants after misuse of high potency steroid creams for diaper dermatitis. 0.1% mometasone is a mild-strength topical steroid and so far to our knowledge no Cushing’s syndrome in children after its usage was documented.Objective and hypotheses: The aim was to present a case of iatrogenic Cushing’s syndrome in a 4...

Introduction: Systemic Juvenile Idiopathic Arthritis (sJIA) is an autoinflammatory disease, characterized by the association of arthritis with fever, often accompanied by rash, generalized lymphadenopathy, hepatosplenomegaly, and serositis. The diagnosis requires adequate exclusion of infectious, autoimmune, autoinflammatory, and oncologic diseases. These patients need to be treated with glucocorticoids plus biologic drugs, anti-IL-1 or anti-IL-6 monoclonal an...

Background: Hashimoto’s thyroiditis (HT) is the most common thyroid disorder in the pediatric population.Objective and Hypotheses: The aim of the present study was to observe clinical manifestations, clinical course and long term outcomes of HT in children and adolescents.Method: A total of 110 children and adolescents who presented to our center from 2008–2015, were evaluated retrospectively. Age and gender of the patien...

Background: The peptides obestatin and adropin are thought to regulate glucose and lipid metabolism, weight gain, and fluid intake in adults. The roles of obestatin and adropin in the regulation of weight and glucose and lipid metabolism in Prader-Willi syndrome (PWS) and non-syndromic pediatric obesity are poorly understood. This study compares the concentrations of obestatin and adropin in infants and children with PWS and age- and BMI-z matched controls, and explores the as...