ESPE Abstracts

Objective: To compare the serum 25-hydroxy Vitamin D [25(OH)D] concentrations in children and adolescents with obesity with and without hepatosteatosis, and investigate the relationship between serum 25(OH)D concentrations and severity of hepatosteatosis. We also aimed to assess the effect of vitamin D treatment after 6 months on hepatosteatosis and liver biochemistry.Methods: One hundred thirty-three obese patients with...

Noonan syndrome (NS) is an autosomal dominant, variably expressed, multisystem disorder with an estimated prevalence of 1 in 1000–2500. In 2001, PTPN11 was the first gene associated to Noonan syndrome; now, at least 20 other genes have been discovered especially in the RAS–MAPK signalling pathway. More recently, missense mutations in RIT1 have been reported as causative of NS. A six-years female patient was referred to our Hospital for short stature (<-2 sds) an...

Background: It was reported recently that central adrenal insufficiency (CAI) in pediatric patients (pts) with Prader-Willi Syndrome (PWS), presented in up to 60% of them, could be a potential cause of sudden death. Moreover it has been suggested that CAI could be aggravated by rhGH recombinant human growth hormone (rhGH) treatment.Objective: To prevent both over- and undertreatment with hydrocortisone, we assessed the p...

Introduction: Obesity and vitamin D deficiency are global public health problems. There is evidence of a reciprocal link between vitamin D deficiency and obesity. Both conditions are risk factors for the development of chronic diseases, primarily insulin resistance and diabetes mellitus type 2, and contribute to a decrease in physical fitness (PF). The aim of this study was to determine the effectiveness of vitamin D supplementation on PF of obese children dur...

The Ig superfamily member 1 (IGSF1) gene encodes a plasma membrane immunoglobulin superfamily glycoprotein, that is highly expressed in Rathke’s pouch and the adult pituitary gland and testis. It is now known that a loss-of-function mutation in this gene causes X-linked syndromic disorders including congenital central hypothyroidism, macroorchidism, prolactin deficiency, partial and transient growth hormone (GH) deficiency, disharmonious pubertal develo...

Background: Spexin is a novel hormone that may potentially impact food intake, weight regulation and body adiposity. Circulating spexin has been associated with obesity and insulin resistance indices in women.Objective: The aim of this study was to determine serum spexin concentrations in adolescent females with metabolic syndrome, with polycystic ovary syndrome (PCOS), with anorexia nervosa as well as in healthy controls, and explore possible relationsh...

Objective: to evaluate combination replacement therapy (CRT) with rFSH and hCG of hypogonadotropic hypogonadism (HH) in boys appropriateness and effectiveness.Materials: 1 boy with isolated HH (№1) and 2 boys (№2,3) with HH caused by hypopituitarism (HP) included. Antropometric data, Тanner; testosterone (T), LH, FSH, inhibin B, anti-Mullerian hormone (AMH), testicular volumes (TV), bone age (BA) evaluated in all patients. GnRH agonis...

Objective: To present a patient with hypercalcemia caused by a parathyroid adenoma and a deletion of the VDR gene.Case clinic: The case is that of a 13-year-old male who presented with hypercalcemia, muscle weakness, nephrocalcinosis, two pathological fractures and a family history of nephrocalcinosis. Physical examination was unremarkable, except the presence of a fracture of the left femur. Laboratory findings: Total s...

Introduction: Patients with type 1 diabetes (T1D) have a higher rate of morbidity and mortality compared with the general population, which varies across countries. Diabetic nephropathy (DN) is a common and serious complication of T1D. Osteopontin (OPN) is a calcium binding phosphoprotein that is expressed in glomerular basement membrane. OPN can be a potential marker of vasculopathy and subclinical atherosclerosis and hence a predictor of DN in T1D patients. ...

Objective: This paper is aimed to explore the significance of plasma kisspeptin level in diagnosis and therapeutic evaluation through the detection of kisspeption level of girls diagnosed with idiopathic central precocious puberty (ICPP) before treatment and after 6-months of treatment and girls with simple premature thelarche (PT).Methods: A total of 70 girls including 24 girls diagnosed with ICPP, 21 girls with PT and 25 normal girls were enrolled. ELI...