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: Vitamin D deficiency has a high prevalence in children. It is produced by the skin from exposure to sunlight but its synthesis is influenced by many external and internal factors.Objective and hypotheses: The study aims to evaluate vitamin D in children with different pathology and highlights the influencing factors of it.Method: We evaluate 25-hydroxyvitamin D levels in 84 patients, sex ratio 1.15:1, aged between 3 mon...

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...

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: Obesity and unfavorable metabolic profile (insulin resistance and/or dyslipidemia) are frequently observed in Polycystic Ovarian Syndrome in Adolescents (PCOS) girls regardless of weight.Objective and hypotheses: To evaluate clinical features and metabolic profile in PCOS adolescents, before, during and after Oral Contraceptive (OC) treatment.Method: We performed a retrospective study on 51 girls with PCOS diagnosed acc...

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...