hrp0092p3-129 | Fat, Metabolism and Obesity | ESPE2019

Influence of Anthropometric Indices at Birth on Obesity Characteristics in School-Age Children

Latyshev Dmitry , Latyshev Oleg , Lobanov Yuri , Karkova Tatyana

Influence of anthropometric indices at birth on obesity characteristics in school-age children Latyshev D. Yu., Lobanov Yu. F.? Latyshev O. Yu. *, Karkova T.A. Altai State Medical University, Barnaul * Russian Medical Academy of Postgraduate Education. Moscow Keywords: obesity, children, body length, body mass index Objective: To study the relationship between anthropometric data at birth and the course of obesity in school-age children. Materials and metho...

hrp0086p2-p948 | Thyroid P2 | ESPE2016

Kocher-Debre-Semelaigne Syndrome: Hypothyroidism with Muscle Pseudohypertrophy

Bogova Elena , Deryagina Alesya , Shyryaeva Tatyana , Tulpakov Anatoly

Background: Kocher-Debre Semelaigne syndrome (KDSS) is a rare form of myopathy in patients with longstanding moderate-to-severe hypothyroidism.Objective and hypotheses: We present the case of 7-year-old boy who developed muscular pseudohypertrophy, associated with long-term untreated hypothyroidism.Method: A 7-year-old boy presented with growth failure, lassitude and lethargy. He was born small for gestational age at 28 weeks gesta...

hrp0084p1-56 | DSD | ESPE2015

Immunohistochemical Detection of Estrogen α and Androgen Receptors in Genital Tissues in Girls with Congenital Adrenal Hyperplasia

Kopylova Irina , Orlova Elizaveta , Sysoeva Veronika , Glybina Tatyana , Kareva Mariia

Background: Introital stenosis in CAH girls could occur due to poor estrogenisation of vaginal tissue. It is unknown whether CAH genital skin is equally capable of responding to estrogens and androgens, depending on form and degree of external virilisation.Objective and hypotheses: To determine the levels of oestrogen α (ERa) and androgen receptors (AR) immunoreactivity in genital tissues of girls with CAH.Method: Surgical was...

hrp0097p1-282 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Measurement of fetal subcutaneous fat in the diagnosis of fetal macrosomia in pregnancies with diabetes mellitus

Victor Svetlana , Prylutskaya Veranika , Kurlovich Ivan , Vashchilina Tatyana

Background and aim: Pregnancy with diabetes mellitus is associated with obstetric and neonatal complications, including the development of fetal macrosomia. Fetal macrosomia of diabetic origin is characterized by a disproportionate distribution of subcutaneous fat with predominant localization in the upper half of the fetus body. The cause of excess fetal growth is maternal hyperglycemia, regardless of the type of diabetes in the mother. The aim of study was t...

hrp0082p2-d2-381 | Fat Metabolism & Obesity (1) | ESPE2014

Neuroendocrine and Psychological Status in Obese Children

Solntsava Anzhalika , Zagrebaeva Olga , Yemelyantsava Tatsiana , Mikhno Hanna , Dashkevich Helena , Tkachova Yuliya

Background: Emotional disorders are serious complications in obese children. Dopamine is known to be one of the neurotransmitters, which is in charge of such conditions.Aim: To determine neuroendocrine and psychological status in obese children.Methods: We examined 296 children in the Endocrinological Department of University Hospital (Minsk); group 1 – 206 obese children (simple obesity: 14.35±2 years; BMI 30.8±2.5 ...

hrp0084p3-1210 | Thyroid | ESPE2015

Thyroid Dysfunction in Children with Trisomy 21: When Subclinical Hypothyroidism should be Treated?

Sukarova-Angelovska Elena , Kocova Mirjana , Zorcec Tatjana

Background: Thyroid dysfunction is well-established feature in children with Down syndrome (DS). There are several reasons for both clinical (CH) or subclinical (SH) hypothyroidism in these children- thyroid dysgenesis and dyshormonogenesis early in life, thyroid insensitivity to TSH; or autoimmune disease during school age.Objective and hypotheses: Evaluation of thyroid function in children with DS.Method: Thyroid function from 80...

hrp0089fc8.5 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

DEAH-Box Helicase 37defects (DXH37) Deffects are a Novel Cause of 46,XY Gonadal Dysgenesis

Gomes Nathalia , Silva Thatiana , Lerario Antonio , Batista Rafael Loch , Junior Jose Antonio Faria , Moraes Daniela , Costa Elaine Maria Frade , Nishi Mirian , Carvalho Luciani Renata , Forclaz Maria Veronica , Papazian Regina , Martinez-Aguayo Alejandro , de Paula Leila Pedroso , Carvalho Filomena Marino , Vilain Erick , Barseghyan Hayk Barseghyan , Keegan Catherine , Domenice Sorahia , Mendonca Berenice Bilharinho

Background: 46,XY gonadal dysgenesis (GD) is a spectrum disorder which lead to variable degrees of atypical external genitalia, ranging from female to micropenis and absent of gonadal tissue (known as Embryonic Testicular Regression Syndrome -ETRS). Most patients with 46,XY GD remains without a molecular diagnosis.Objective: To report the DEAH-box helicase 37 gene (DHX37) as a novel candidate for the GD etiology.Patients a...

hrp0092p1-55 | Fat, Metabolism and Obesity | ESPE2019

A Novel Recurrent Heterozygous Plin1 Mutation in Three Russian Patients with Partial Lipodystrophy, Dyslipidemia and Insulin Resistance

Tikhonovich Yulia , Sorkina Ekaterina , Kolodkina Anna , Vasilyev Evgeniy , Petrov Vasiliy , Pogoda Tatyana , Vasiukova Olga , Tiulpakov Anatoly

Introduction: The PLIN1 gene encodes perilipin - a lipid droplet coat protein expressed in adipocytes where it inhibits basal and facilitates stimulated lipolysis. Mutations in PLIN1 have been described in several families with partial lipodystrophy, dyslipidemia and insulin resistance (partial lipodystrophy type 4, Familial, FPLD4). Herein we describe a novel heterozygous c.1210-1delG splicing variant in PLIN1 gene in three unrelate...

hrp0092p1-147 | Thyroid | ESPE2019

Intrathyroidal Ectopia of Thymus in Children: Frequency, Ultrasound, Evolution

Okminyan Goar , Rogova Olga , Pykov Mihail , Lavrova Tatyana , Kiselyova Elena , Latyshev Oleg , Samsonova Lyubov

Objectives: to study the frequency, ultrasound characteristics and the evolution of intrathyroidal ectopia of thymus(IET) in children.Materials and Methods: as part of an epidemiological study (2014-2017), an assessment consists of incidence of IET in pre-puberty children, which using ultrasound of 1164 patients (604 girls, 560 boys). As part of a clinical study (2014-2019), the ultrasound characteristics and the evoluti...

hrp0092p1-356 | Fat, Metabolism and Obesity (2) | ESPE2019

The «Double Diabetes» in Adolescent with Prader-Willi Syndrome.

Bogova Elena , Shiryaeva Tatyana , Nagaeva Elena , Volevodz Natalya , Peterkova Valentina , Bezlepkina Olga

Background: Prader-Willi syndrome (PWS) is a complex, multisystem disorder that arises from lack of expression of paternally imprinted genes on chromosome 15q11-q13. Its major clinical features include neonatal hypotonia, short stature, developmental delay, hyperphagia, childhood onset obesity, hypothalamic endocrinopathy and characteristic appearance. It is known that due to severe obesity PWS patients are prone to develop type 2 diabetes mellitus (T2DM), whi...