ESPE Abstracts

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...

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: 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...

Aim: To examine offspring of patients with simple obesity. To ascertain, if there are some disturbances in the carbohydrate or lipid metabolism or unknown type 2 diabetes in these subjects.Method and subjects: Examined were 132 families, 108 families with obesity, and 24 families without obesity, the control group. 14 additional were excluded because of ascertained at the time of examination unknown type 2 diabetes in the parents. In all of the offspring...

Introduction: Short stature is one of the most common reasons for children presenting to an endocrinologist. In normal conditions, growth hormone (GH) stimulates the IGF-1 production in hepatocytes via the STAT5 signaling pathway. Approximately 40% of children diagnosed with idiopathic short stature (ISS), i.e. with normal GH secretion, have a reduced IGF-1 level for unknown reasons. Recently, it has been described that there are certain factors that reduce IG...

Neonatal Diabetes mellitus (NDM) is a rare genetic disease. In this report, we presented a case of NDM due to mutation in GCK gene. A male baby born to a non-consanguineous parent at 42 weeks of gestation with a birth weight of 3.2 kg. The mother was diagnosed with gestational diabetes; no special treatment was given. The first episode of hyperglycemia was registered at the age of 13 days at hospitalization due to bronchitis /blood glucose -6.2⁓7.9 mmol/l. Due to mild h...

Introduction: Noonan syndrome (NS) is relatively common genetic disorder caused by mutations in the PTPN11 (50%), SOS1 (10-13%), and RAF1 (3-17%) genes responsible for disturbances in the activation of the RAS/MAPK signaling pathway. NS is characterized by facial dysmorphic features (90%), congenital cardiac disturbances and short stature (<3c) - the average final adult height is 162.5 cm for male and 153 cm for female. In some, but not all of the NS patien...

Background: Studies in young mammals on the qualitative and quantitative molecular effects of food restriction (RES) and re-feeding, leading to catch up growth (CU) are scarce. Whereas RES may lead to growth and developmental deficits in children, it is a proven treatment to prolong life in all animals checked.Objective and hypotheses: We used MS analysis to understand how RES might lead to growth attenuation and prolonged life span and identify the majo...