hrp0094p2-463 | Thyroid | ESPE2021

The use of intravenous introduction of glucocorticoids in the active stage of graves’ ophthalmopathy in childhood. Clinical Case

Ivannikova Tatiana , Nagaeva Elena , Bezlepkina Olga

Clinical case: A 17-year-old patient was observed with a diagnosis of GD in October 2016. When the patient was examined in the hormonal profile there were hyperthyroidism, a high titer of antibodies to the TSH receptor, in connection of which thyrostatic therapy initiated. In dynamics since November 2018 there has been a pronounced increase in the total volume of the thyroid gland. Firstly she was examined at the Endocrinology Research Center in October 2019...

hrp0094p2-146 | Diabetes and insulin | ESPE2021

A Rare Clinical Case Of A Combination Of Monogenic And Autoimmune Diabetes Mellitus.

Romanenkova Elizaveta , Titovich Elena , Laptev Dmitry , Peterkova Valentina , Bezlepkina Olga ,

Introduction: Type 1 diabetes mellitus (T1D) is the most common form of carbohydrate metabolism disorder in childhood. There are also monogenic forms of diabetes. In the world literature, there are isolated mentions of the combination of monogenic and autoimmune forms of diabetes mellitus.Clinical case: A 10-year-old obese patient presented with hyperglycemia. At hospitalization: height 168 cm, weight 87 kg, SDS BMI +3.0. Glycemia 14.4 m...

hrp0092rfc5.3 | Thyroid | ESPE2019

Experience of Thyroid Surgery in Children with Intraoperative Neuromonitoring

Brovin Dmitriy , Anikiev Alexander , Danilenko Oleg , Vyazmenov Edward , Bezlepkina Olga , Kuznetsov Nikolay

Introduction: Thyroid surgery in children is associated with high risk of recurrent laryngeal nerves (RLN) damage. It is due to complex and variable anatomy, high bleeding which decreasing visualization and requiring instrumental hemostasis. Large goiters change of syntopy, metastatic process requires bigger aggression and volume of intervention. The risk of damage significantly increases during repeated operations due to the scar process. There is significant...

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...

hrp0082p1-d2-256 | Thyroid (1) | ESPE2014

Screening for Congenital Hypothyroidism in the Russian Federation (1997–2012)

Bezlepkina Olga , Chikulaeva Olga , Chumakova Olga , Karavaeva Lyudmila , Bezlepkin Alexey , Peterkova Valentina

Background: Screening for congenital hypothyroidism (CH) in the Russian Federation started in 1994. A survey was conducted in 1994 on the basis of 32 laboratories, and since 2007 newborn screening is being carried out in 79 laboratories of 83 regions of the Russian Federation.Objective and hypotheses: To study the prevalence of CH in Russia and in different regions of the Russian Federation.Method: Official statistics on CH screeni...

hrp0094p2-490 | Thyroid | ESPE2021

Thyroid dyshormonogenesis: a case report of two siblings with a heterozygous variant in the TPO gene.

Vadina Tatiana , Konushova Marina , Eremyan Aikaz , Shreder Ekaterina , Nagaeva Elena , Zaharova Svetlana , Degtyarev Michael , Bezlepkina Olga

Background: Congenital hypothyroidism (CH) is an inborn disease with an incidence rate of 1 case per 3,600 newborns of which 15-20% cases are associated with thyroid dyshormonogenesis. The TPO gene encodes thyroid peroxidase. Disease associated with this gene is usually transmitted in an autosomal recessive mode. Hypothyroidism-associated TPO variants are usually biallelic, limited evidence for cases in patients with heterozygous variants exists.Method...

hrp0094p2-192 | Fat, metabolism and obesity | ESPE2021

Exercise-induced expression of myokines in adolescents with simple obesity.

Kasyanova Yulia , Vasyukova Olga , Okorokov Pavel , Bezlepkina Olga , Peterkova Valentina , Malysheva Natalya ,

Myokines - biologically active proteins produces and secretes by skeletal muscles in response to physical activity (PA). They play a role in lipid and glucose metabolism, myogenesis and osteogenesis, thermogenesis activity. Exercise-induced expression of myokines in adolescents with simple obesity insufficiently studied.Objective: to determine which intensity and duration of PA maximally changes the level of myokines (interleukin-6 (IL-6...

hrp0094p2-364 | Pituitary, neuroendocrinology and puberty | ESPE2021

Congenital hypogonadotropic hypogonadism associated with X-linked ichthyosis due to X-chromosome microdeletion identified by chromosomal microarray

Kokoreva Kristina , Chugunov Igor , Kalinchenko Natalia , Latyshev Oleg , Samsonova Lyubov , Bezlepkina Olga ,

Objective: to assess diagnostic usefulness and accuracy of different tools in patients with Kallmann syndrome and ichthyosis due to X-chromosome microdeletion.Materials: сongenital hypogonadotropic hypogonadism due to KAL1 pathological variants manifest with micropenis, cryptorchidism, delay of puberty, and not associated with disorder of sex development. This condition can be associated with ichthyosis due to deletion of X chromosome region with genes KAL...

hrp0095p1-197 | Thyroid | ESPE2022

A familial case of PAX8 gene variant with incomplete penetrance

Shreder Ekaterina , Vadina Tatiana , Solodovnikova Ekaterina , Shiryaeva Tatyana , Konuhova Marina , Dmitrieva Maria , Bogdanov Viktor , Nagaeva Elena , Bezlepkina Olga

Background: The PAX8 gene (Paired box gene 8) is located on the long arm of chromosome 2 (2q12–q14), contains 12 exons and encodes a similarly named PAX8 protein. This protein is a transcription factor which in the thyroid gland is essential for the follicular cells formation and takes part in the expression of the thyroid-specific genes (TG, TPO, and SLC5A5). Variants in the gene have been previously associated with autosomal dominant thyroid dysgenesis...

hrp0084fc13.3 | Thyroid | ESPE2015

Targeted Next-Generation Sequencing Demonstrates High Frequency of ‘Dyshormonogenesis Genes’ Mutations in Severe Congenital Hypothyroidism

Makretskaya Nina , Bezlepkina Olga , Kolodkina Anna , Kiyaev Alexey , Vasilyev Evgeny , Petrov Vasily , Kalinenkova Svetlana , Duhoreva Olga , Malievsky Oleg , Dedov Ivan , Tiulpakov Anatoly

Background: 80–85% of cases of congenital hypothyroidism (CH) are shown to be due to thyroid dysgenesis, while 15–20% are due to dyshormonogenesis. At least 12 candidate genes are associated with congenital hypothyroidism (CH), however its molecular basis is defined in fewer than 10% of the patients (ESPE consensus, 2014). Recent studies suggest that using a next generation sequencing (NGS) approach may increase the mutation yield in CH.Objecti...