hrp0089p3-p133 | Fat, Metabolism and Obesity P3 | ESPE2018

Nonclassical Manifestation of PWS

Bogova Elena , Volevodz Natalya , Peterkova Valentina

Background: Prader-Willi syndrome (PWS) is a complex, multisystem disorder and is the most frequent cause of syndromic obesity that arises from lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. Its major clinical features include neonatal hypotonia, short stature, developmental delay, behavioral abnormalities, hyperphagia, childhood onset obesity, hypothalamic hypogonadism, and characteristic appearance.Case history: We ...

hrp0082p2-d3-616 | Turner Syndrome | ESPE2014

Improvements in Bone Mineral Density in Girls of Prepubertal Age with Turner Syndrome

Malievsky Oleg , Volevodz Natalya , Peterkova Valentina

Background: Patients with Turner’s syndrome (TS) develop osteoporosis, resulting from chromosomal deficiency and estrogen deficiency by gonadal dysgenesis.Objective and hypotheses: The aim of this study was to assess bone mineral density (BMD) and parameters of bone remodeling during somatropin therapy in prepubertal girls with TS.Population and/or methods: We examined 22 girls with TS of the age of 11–15 years (the mean ...

hrp0084p1-75 | Fat | ESPE2015

Ghrelin and Brain-Derived Neurotrophic Factor in Children with Prader-Willi Syndrome

Bogova Elena , Volevodz Natalya , Peterkova Valentina

Background: Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder arising from lack of expression of paternally inherited imprinted genes on chromosome 15q11–q13. Hyperphagia represents one of the most serious symptoms of the PWS, leading to develop premature mortality.Objective and hypotheses: To compare orexigenic (ghrelin) and anorexigenic factor (brain derived neurotrophic factor (BDNF)) concentration in non-GH-treated obese pati...

hrp0092p2-9 | Adrenals and HPA Axis | ESPE2019

The Clinical Polymorphism and Variability of X-linked Adrenoleukodystrophy in One Russian Family

Sidorova Yuliya , Sozaeva Leila , Kareva Maria , Peterkova Valentina

Adrenoleukodystrophy is an X-linked, inherited metabolic disorder. Here, we present 3 clinical cases of different phenotypes with one mutation in ABCD1 gene in one family.Patient 1: At the age of 9 years, manifestation of neurological symptoms was observed, skin color changed, these symptoms progressed monthly. MRI of the brain showed 13 points on Loes scale.During the examination, the diagnosis of X-linke...

hrp0089rfc5.4 | Thyroid | ESPE2018

The Value of Cytological, Histological and US Examination to Determine of Management Children with Nodular Goiter

Brovin Dmitriy , Peterkova Valentina , Anikiev Alexander , Danilenko Oleg , Kuznetsov Nikolay

Introduction: To date, there are no clear indications for surgical treatment of nodular goiter in children. Current scheme of diagnostic evaluation thyroid nodules in children is not always justified. A number of patients either go to the removal of thyroid remnants when a carcinoma is found in the histological examination and the need for radioiodine therapy, or are at risk of surgery if the results of the final histology show that the disease is benign.<p class="abstext"...

hrp0089p1-p089 | Diabetes &amp; Insulin P1 | ESPE2018

Features of T2DM in Adolescents with Low Titer of ICA and IAA

Eremina Irina , Kuraeva Tamara , Zilberman Lubov , Peterkova Valentina

Purpose: To assess the prevalence of pancreatic autoantibodies (Ab) and their impact on the course of type 2 diabetes mellitus (DM2) in adolescents.Materials and methods: ICA, GADA, IA-2 and IAA were measured in 66 patients with DM2. Depending on the presence of autoantibodies (Ab) patients were divided into 2 groups: Ab- and Ab+. HLA-typing was carried out in 45 patients. The secretion of C-peptide in the standard carbohydrate brea...

hrp0089p2-p236 | GH &amp; IGFs P2 | ESPE2018

Artificial Neural Networks for Prediction Final Height in Children with growth Hormone Deficiency

Gavrilova Anna , Nagaeva Elena , Rebrova Olga , Shiryaeva Tatiana , Peterkova Valentina

Background: Mathematical models predicting final height (FH) and its standard deviation score (SDS) in children with growth hormone deficiency is an important tool for clinicians to manage treatment process. Previously developed models do not have enough accuracy or are not good enough for practical use.Objective and hypotheses: We used four binary and seven continuous predictors available at the time of diagnosis and start of therapy and developed multi...

hrp0089p3-p207 | GH &amp; IGFs P3 | ESPE2018

Erythropoietin and Granulocyte Macrophage Colony Stimulating Factor Levels in Growth Hormone Deficient Children after 1 Year of Growth Hormone Therapy

Pankratova Maria , Vorontsova Maria , Yusipovich Alexander , Shiryaeva Tatiana , Peterkova Valentina

Background/Aims: An increase in growth rate in children suffering from growth hormone deficiency (GHD) subjected to recombinant growth hormone treatment (rGHT) was shown to be accompanied by acceleration of metabolic processes that may stimulate hematopoiesis. Therefore, the aim of the present study was to examine the effects of one year rGHT on erythropoietin (EPO) and Granulocyte Macrophage Colony Stimulating Factor (GM-CSF) levels in GHD children.Meth...

hrp0086p1-p29 | Adrenal P1 | ESPE2016

Testicular Adrenal Rest Tumours in Patient with X-Linked Adrenoleukodystrophy

Chugunov Igor , Kareva Maria , Orlova Elizaveta , Peterkova Valentina

Background: Testicular adrenal rest tumours (TARTs) are benign tumors consisting of cells with adrenal-like features in mediastinum of testes. TARTs occur in up to 94% of adult male patients with classic 21-hydroxylase deficiency and also have been described in patients with Cushing syndrome and acquired adrenal insufficiency. Poor disease control is thought to be one of the main predictive factors for TARTs development.Clinical case: A boy presented at ...

hrp0086p2-p50 | Adrenal P2 | ESPE2016

Ovarian Cysts in a 46,XX Patient with Congenital Lipoid Adrenal Hyperplasia and with Spontaneous Puberty

Kopylova Irina , Orlova Elizaveta , Yarovaya Irina , Kareva Maria , Peterkova Valentina

Background: Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, characterized by lack of synthesis of all kinds of steroids in adrenals and gonads due to defects in gene of Steroidogenic Acute Regulatory protein (StAR). 46,XX patients can have a spontaneous puberty due to residual estrogen synthesis by a StAR-independent pathway in ovary. Development of ovarian cysts may be derived from persistent anovulation and impairment o...