ESPE Abstracts

Objectives: The results from several European studies done during the last 25 years show that fractures are common in childhood with the highest incidence in pubertal years. Fractures are more prevalent among males, and the distal arm is the most common location. The role of the body weight as a risk factor for fractures in childhood is still unclear and under debate.Methods: А survey about fracture history and the p...

Background: We present a 3 years old boy born on term from young non-consanguineous parents with negative family history. Shortly after birth swelling of the feet and multiple generalised erythematous cutaneous plaques and nodules gradually appeared. Recurrent fever attacks, hepatosplenomegaly, significant growth delay (height – 4.0 S.D.) and progressive loss of subcutaneus fat tissue followed.Objective and hypotheses: Laboratory inve...

Background: Hypercalcemia requires new investigation pathways after publishing the mutations of the CYP24A1 gene. Furthermore, diagnostic puzzles connected to it still remain.Objective and hypotheses: We present a 1.5-years-old girl with infantile hypercalciuria who has been followed-up since she was 4 months old. The child is born from uneventful pregnancy, normal delivery, on term with weight 3600 g and length 52 cm. Two months after birth she became i...

Growth hormone (GH) has been used for the treatment of short stature due to GH deficiency (GHD) for over 60 years. Height velocity (HV) in the first year of therapy is well studied and its crucial importance for growth outcome in subsequent years is confirmed.Objectives: The aim of this study is to assess the responsiveness to GH treatment in GHD patients of a newly established treatment center before and after change in starting GH dose...

Prader-Willi syndrome (PWS) is a genetic condition (frequency from 1:8000 up to 1:30 000), which is associated with deletions of chromosome 15 (region 15q11.2), maternal uniparental disomy and impring defects. It is characterized by muscle hypotonia in the early postnatal period, excessive weight gain after 2 years of age, lack of satiety, short stature, hypogonadism and compulsive-like behavior. Every patient has his/her own specific needs that change with age and individuali...

Background: Non-classic congenital adrenal hyperplasia (NCCAH) and polycystic ovary syndrome (PCOS) present with similar hyperandrogenic symptoms in adolescent girls and may be associated with the development of cardiometabolic disorders.Aim: The purpose of the study was to evaluate the prevalence and the association between the clinical and biochemical parameters of hyperandrogenism and metabolic disorders in girls with...

Introduction: Premature ovarian failure (POF) is defined as a heterogeneous disease leading to amenorrhea and ovarian failure before the age of 40 years. It is found in 1-3% of women of reproductive age, with some negative consequences such as cardiovascular disease, osteoporosis and sexual dysfunction. Triple X syndrome is characterized by POF with primary or secondary amenorrhea, tall stature, large feet. Girls with triple X syndrome show accelerated growth ...

Aim: Evaluation of the results from the campaign GrowInform (2017-2019), a project with the main aim to raise awareness of growth disorders, and secondary aims to facilitate screening for growth deviations in children from areas with no easy access to pediatric endocrinologists, thus achieving earlier diagnosis and treatment.Methods: For 2 years (April 2017 to March 2018), GrowInform acted in 13 cities and towns from Eas...

Background: Evidence associates obesity with glomerular hyperperfusion. Concurrent inflammation, hypertension, dyslipidemia, and insulin resistance represent further established risks to renal health in both children and adults.Objective and hypotheses: To investigate the relationship between childhood obesity and risk of renal impairment.Method: A total of 114 (38.6% boys) obese according to the IOTF reference but otherwise health...

Acid-labile subunit (ALS) is a glycoprotein, which is produced in the liver in response to growth hormone (GH). The main role of ALS is to form a complex with insulin-like growth factor I (IGF-I) and IGF binding protein-3 (IGFBP-3) in order to extend their circulating half-life and thus support the action of GH. Although the mechanism and the consequences of ALS deficiency are well studied, ALS-deficient patients are still of research interest because of the unclear incidence ...