ESPE Abstracts

Background: Cholestatic hepatopathy is a rare but serious threat to neonates and young infants. Their immature hepatic excretory function predisposes for severe and rapidly progressive hepatic injury. Because of the wide range of possible etiologies, it is often difficult to make an accurate diagnosis. One rare endocrine cause can be primary or secondary hypocortisolism.Case presentation: i) A 7-week-old term-born female with cholestasis, elevated liver ...

Clinical Case Description: Patient, 14 years 6 months old, complained of irregular menstrual cycle. On clinical examination, sexual development was Tanner 4, Me at 13 years old, the girl had 3 menses, with a last delay up to 8 months. Single terminal hairs along the white line of the abdomen, areola. The patient had epicanthus and narrowed eye slits of different sizes. She was operated on for congenital blepharophimosis in infancy. No one has similar problem...

Objective: determination of changes in metabolic status and osteoprotegerin concentrations in obese children.Methods: We examined 120 children in the University Hospital (Minsk) from 2017 to 2019 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Blood levels of osteoprotegerin (OPG), insulin were determined. In the biochemical blood test, the parameters of uric acid, insulin we...

Objective: Determination of changes in metabolic status and vitamin D concentrations in obese children.Methods: We examined 212 children in the University Hospital (Minsk) from 2016 to 2018 years. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Blood levels of vitamin D, insulin, uric acid were determined. All children were divided into 2 groups: group 1 children with morbid obesity – 140 patients (90 boys(B)...

Studies support the existence of a genetic contribution to both type 1 and type 2 diabetes, and additionally suggest a relationship between both types of diabetes. The rapidly growing worldwide epidemic of type 2 diabetes has been partially explained by obesity and the sedentary lifestyle. However, familial factors also seem to play a major role in the pathogenesis of type 2 diabetes.). The fact that type 1 and type 2 diabetes cluster in families suggests that some patients ma...

Case presentation: G. 15 years 8 months; H 180 cm; P 149.6 kg, BMI 46 kg/m2, second born, father obese, healthy mother and two brothers, no familiarity for T1DM/T2DM, no gestational diabetes. Bronchial asthma, since 2-year-old important weight increase. Flue, polyuria, polydipsia, 12 kg loss in 15 days, anorexia since 5 days, vomit. Hospitalized for tachycardia, dyspnea, and asthenia. On arrival: serious dehydration, Kussmaul breathing, neck subcutaneous emphysema, ...

Background: The most common forms of maturity-onset diabetes of the young (MODY) are MODY-GCK and MODY-HNF1A. Prevalence of MODY in Russian population is unknown.Aims and objectives: To compare clinical laboratory characteristics of MODY-GCK and MODY-HNF1a in children and adolescents, to estimate prevalence of MODY.Method: 151 children and adolescents were screened for mutations in GCK and HNF1A. HbA1c, fasting and stimulated gluco...

Background: Prader-Willi syndrome (PWS), caused by loss of paternally imprinted genes in the 15q11-13 region, results in hypogonadism which is more severe in males.Objective: To review the gonadal status of patients seen in a dedicated PWS clinic from 1990–2013 inclusive so as to establish the clinical patterns and hence to optimise future management.Method: Retrospective case note review over a 23-year period.<p class="ab...

Context: Premature breast enlargement before the age of 8 in girls is caused by a broad spectrum from premature thelarche to central precocious puberty. Treatment with GnRH analogues aim to delay either early onset of menstruation with its psychological consequences and/or early epiphyseal fusion. The Indication of treatment is a challenge classically based on the result of the luteinizing hormone (LH)-releasing hormone (LHRH) stimulation test.<p class="ab...

Objective: determination of changes in metabolic status and osteoprotegerin (OPG) concentrations in obese children.Methods: We examined 220 children in the University Hospital (Minsk) from 2022 to 2023 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Blood levels of OPG, insulin were determined. All children were divided into 2 groups: group 1 children with morbid obesity (MO)...