ESPE Abstracts

Background: Klippel–Feil syndrome (KFS) is characterized by congenital fusion of cervical vertebrae and has a prevalence of 1:50 000. The phenotypic expression is variable, sometimes presenting with extraskeletal symptoms.Case report: A girl was referred at the cronological age (CA) of 10.3 years with a suspected diagnosis of Turner syndrome, due to the presence of webbed neck and progressive deceleration of growth velocity. The girl, born in Russia...

Background: GH deficiency (GHD) is classically defined on the basis of a cut-off applied to the peak GH level during stimulation tests; a process with recognised limitations. Identifying the functional role of genes whose expression is associated with pGH may help with our understanding and classification of GHD.Objective and hypotheses: Identify patterns of gene expression (GE) related to pGH and to describe the function, and regulation of these genes.<...

Central precocious puberty (CPP) may be secondary to congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency. CPP in CAH may be associated with elevated sex-steroid levels and possibly a decline in negative sex-steroid feedback after treatment initiation. We experienced the two family cases of the salt-wasting form of the CAH, complicated by CPP with early maturation of the hypothalamic-pituitary-gonadal axis in all patients from two families.<p class="abste...

Introduction: Congenital hyperinsulinism (HI) is the leading cause of persistent hypoglycemia in infants and children. It is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11. KATP-HI can be classified into two distinct histological forms: a diffuse form, in which all of the pancreatic β-cells a...

Background: It is used to define body weight status in children and adolescents using age- and gender-corrected for BMI-SDS. Also excess body weight (EBW) is increasingly applicable to children and adolescents (BMI 99-th percentile). BMI seems to be informative for the severity of obesity, but not for relevant risks of dyslipidaemia.Objective and hypotheses: To reveal the potential connections between absolute levels of lipids and BMI, as well as several...

Background: SHOX deficiency is a frequent cause of short stature. GH therapy has been approved for growth promotion in individuals with SHOX mutations by FDA and EMEA.Case report: Three patients with Leri-Weill syndrome (LWS) started GH therapy at different chronological ages (CA). Patient 1 started GH+LHRHa at the CA of 13.4 years, height 148.4 cm (−1.5 S.D.), Tanner stage 4, bone age (BA) 13 years. Target height (TH) 160.5 cm (&#87...

Background: Pubertal timing is influenced by a complex interaction among genetic, nutritional, environmental and socioeconomic factors. Over the past 30 years a trend in pubertal timing anticipation has been demonstrated. Environmental factors involved in this phenomenon are mainly represented by endocrine disruptors compounds (EDCs), such as pesticides, industrial compounds and persistent organic pollutants, estrogens and phytoestrogens.Objective and hy...

Introduction: Hypopituitarism is the partial or complete insufficiency of a single or multiple pituitary hormones. The clinical manifestation of hypopituitarism varies depending on the number and severity of hormone deficiencies. Familial cases are rare, compared to the sporadic ones. Its estimated incidence is between 1:4000-1:10000 live births.Case report: We report the clinical case of familial hypopituitarism in a fa...

Background: Estrogen is an essential regulator of bone maturation, growth plate fusion, and cessation of longitudinal growth. Aromatase inhibitors (AI) block the conversion of androgens to estrogens, and can be used to delay bone maturation in males.Objective and hypotheses: We sought to determine whether the blockage of estrogen biosynthesis due to the use of the AI Anastrazole increases the Predicted Adult Height (PAH) in boys with short stature.<p...

Background: We analyzed characteristics of patients with stunting admitted at Endocrinology Department of Muratsan University Medical Settings, the only specialized center in Armenia. No similar study was carried out in this region.Objective and hypotheses: Patients (n=102) were evaluated prospectively.Method: The following parameters were used for statistical analysis- demographic information, diagnosis, anthropometric da...