hrp0089p3-p025 | Adrenals and HPA Axis P3 | ESPE2018

Congenital Adrenal Hyperplasia due to a Rare Homozygous Mutation R483P in the CYP21A2 Gene and Coexisting Growth Hormone Deficiency

Akulevich Natallia , Makarava Yulia , Boiko Julia , Mirabelli Silvestro , Wasniewska Malgorzata , DeLuca Filippo

In CAH due to 21-OH deficiency, GH treatment combined to GC and MC replacement is still considered to be experimental. We present a patient who has benefited from such treatment. A baby girl was born in term with clitoromegaly and manifested with salt loose at neonatal period. Low serum morning cortisol and sodium with high potassium and 17-OH levels were found resulted in the clinical diagnosis of CAH. The karyotype was 46,XX. Prednisolone and DOXA, the only available hormone...

hrp0089p2-p068 | Diabetes & Insulin P2 | ESPE2018

Acute Painful Diabetic Neuropathy (Apdn) in a Boy with Type 1 Diabetes

Muz Nataliia , Pakhomova Viktoriia , Sprinchuk Nataliia

A 15y10m boy was presented to our hospital (in March 2017) with the complaints of acute, severe, continuous, burning pain affecting soles and both legs, insomnia, loss of body weight and appetite. He described his pain as stabbing and burning. He also perceived contact with bed clothing, socks, shoes or floor as causing extreme discomfort. He could barely move out of bed. He had no symptoms in hands or any other neurological complaints. An. Morbi: type 1 diabetes was diagnosed...

hrp0092p3-262 | Thyroid | ESPE2019

A 12 Year Old Boy with Multifocal Papillary Thyroid Carcinoma

Muz Nataliia , Pakhomova Viktoriia , Sprynchuk Nataliia , Kvacheniyk Dmytro , Bolshova Olena

Thyroid carcinoma in pediatric patients usually manifests as an asymptomatic neck mass, with a reported incidence of cervical lymphadenopathy that ranges from 35-83%.Multifocal involvement of the thyroid gland is a well-recognized feature of papillary carcinoma. The reported frequency is about 20%, with wide variations depending on the extent of the sampling and reporting by the pathologistA 12 year old boy presented with t...

hrp0095p1-597 | Thyroid | ESPE2022

Congenital hypothyroidism: outcome of a 26 year screening (1996-2021)

Svinarev Michail , Kurmacheva Nataliia , Gumeniuk Olga , Chernenkov Yuriy , Aranovich Vera

Introduction: A natiowide screening for Congenital Hypothyroidism (CH) was introduced 1996 in Russian Federation and Saratov Region. Revelation of the incidence of CH is of great value at the background of moderate iodine deficiency existing in Saratov and Saratov Region. Neonatal screening is an effective method for early detection of congenital hypothyroidism, a disorder that requires the prompt initiation of the treatment, in order to prevent the subsequent...

hrp0097p1-236 | Diabetes and Insulin | ESPE2023

The impact of covid-19 pandemic on the incidence type 1 diabetes in children

Kurmacheva Nataliia , Svinarev Michail , Chernenkov Yuriy , Gumeniuk Olga , Aranovich Vera

Viral infections may increase the risk of developing type 1 diabetes (T1D), and recent reports suggest that Coronavirus Disease 2019 (COVID-19) might have increased the incidence of pediatric T1D (M. Rahmati et al., 2022). In general, the course of viral infection in children is mild, the question of the long-term effects of COVID-19 on a child and adolescent, in particular, on pancreatic beta cells, remains unclear.Purpose: To ...

hrp0092p1-13 | Adrenals and HPA Axis | ESPE2019

Cytokines and the Impairment of Puberty

Shlyachova Natalia , Turchina Svetlana

The changes of the immune reactivity, the production of hormones and the neuroendocrinal regulation of immune homeostasis are the entities closely connected with the puberty. There is evidence for the role of cytokines in securing of intersystemic interaction as well as for the influence of reproductive hormones on the cytokine production. However, the question as to the role of cytokine in the formation of delayed puberty continues to be relevant.<stron...

hrp0095p1-298 | GH and IGFs | ESPE2022

Use of PDE5 inhibitors as a potential treatment for isolated growth hormone deficiency caused by alternate splicing of GH1 gene.

Pandey Amit , Natalia Rojas Velazquez Maria

Mutations in the GH1 gene cause isolated growth hormone deficiency (IGHD) by affecting production, secretion, and stability of growth hormone as well as its binding to GHR. A smaller isoform of GH1 is inactive and is linked to IGHD. While studying the impact of small GH isoform, we noticed that cells with the short 17.5 kD version of GH looked different from the control cells. We found that the production of short GH isoform distorts the cell morphology, contributing to detrim...

hrp0084p3-772 | Diabetes | ESPE2015

Insulin Therapy in the Pediatric Age–Group

Mikhno Hanna , Solntsava Anzhalika , Volkova Natalia

Objective: Continuous subcutaneous insulin therapy (CSII) and therapy with insulin analogues are considered to provide physiological insulin replacement, which results in improvement of diabetes control. Rate metabolic compensation of diabetes mellitus (DM) in children on IPT and basal-bolus insulin therapy on the level HbA1c and self-control of glycemia.Methods: We analyzed retrospectively 88 histories of disease children with type 1 DM. The patients we...

hrp0097p1-234 | Diabetes and Insulin | ESPE2023

Health services for children with diabetes mellitus in Dnipro, Ukraine

Yenhovatova Viktoria , Globa Evgenia , Zelinska Natalia

As of 2022, the Ukraine Pediatric Diabetes Register (UPDR) contained children aged <18 years with DM1- 11014 (1 in 677), with DM2 – 51 (1 in 146274), with neonatal diabetes (ND) – 69 (1 in 108115), and 59 cases (1 in 126440) with MODY. Most studies focus on such parameters as HbA1c, acute complications and quality of life, whereas investigations of the frequency of chronic DM1 complications and glycemic control for internally displaced persons (IDP) have not bee...

hrp0092p2-221 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

The Case of Congenital Hypopituitarism Due to Mutation POU1F1 in 3 Azerbaijani Newborn Boys

Arestova Anzhelika , Skorodok Yulia , Ioffe Irina , Kazachenko Natalia , Turkunova Maria , Ivanov Dmitry , Vorozhko Oksana , Filatova Natalia

Background: Growth hormone deficiency in conjunction with the function loss of other anterior pituitary hormones is called combined pituitary hormone deficiency (CPHD). The most common congenital CPHD is caused by mutations in genes: PROP1, POU1F1, HESX1, LHX3, LHX4, OTX2, GLI2, and SOX3. POU1F1 mutations are extremely rare among the Indo-European ethnic type (1% of all cases of congenital hypopituitarism) and more common among the Turkic peoples (7.3%...