hrp0086p1-p367 | Gonads & DSD P1 | ESPE2016

Ovarian Reserve Assessment in Girls and Women after Hematopoietic Stem Cell Transplantation Treatment Underwent in Childhood

Wedrychowicz Anna , Wojtys Joanna , Starzyk Jerzy B.

Background: Hypogonadism is one of the most frequent endocrine complication after hematopoietic stem cell transplantation (HSCT). In some patients hypogonadism could be transient, but very often coexists with prematury ovarian failure. Classical methods used in the diagnostics of hypogonadism have limitations for the prognosis of ovarian reserve.Objective: The aim of the study was to assess ovarian reserve in patients after HSCT using ev...

hrp0086p1-p602 | Growth P1 | ESPE2016

Prediction of First Year Response to Growth Hormone Treatment in Neural Network Models

Smyczynska Urszula , Smyczynska Joanna , Hilczer Maciej

Background: Accurate prediction of responsiveness to growth hormone (GH) therapy is an important issue. The 1st year response to treatment is regarded as significant predictor of the attained final height. Neural networks are techniques of machine learning which do not require any assumptions and preprocessing of data, contrary to linear regression models.Objective and hypotheses: The aim of the study was to predict height velocity (HV) during 1st year o...

hrp0089p2-p366 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Genetic Etiologies and Gender Outcomes of Patients with Disorders of Sex Development Presenting with Asymmetric Gonads

Oh Arum , Kim Yoon-Myung , Hun Seo Go , Kim Gu-Hwan , Choi Jin-Ho , Yoo Han-Wook

Purpose: Patients with mixed gonadal dysgenesis (MGD) and ovotesticular disorders of sex development (DSD) usually present with asymmetric gonads. Differential diagnosis of these conditions is based on karyotype and pathological findings of gonads. However, it is difficult to determine sex of rearing and to predict long-term outcomes. This study investigated the clinical features, karyotype, sex of rearing, and pubertal outcomes of patients with MGD and ovotesticular DSD.<...

hrp0097p2-158 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

A case of male pseudoermaphroditism (46,XY DSD) in an adolescent with a novel de novo NR5A1 gene variant.

Kostopoulou Eirini , Samkinidou Efstratia , Sertedaki Amalia , Efthymiadou Alexandra , Giannakopoulos Aristeidis , Hyun Seong-In , Lee Hane , Hun Seo Go , Chrysis Dionisios

Introduction-Purpose: In addition to chromosomal abnormalities, a number of genes have been implicated as causes of Disorders of Sexual Development (DSD). The NR5A1 (SF-1) gene expresses a transcription factor that plays a role in steroidogenesis by controlling multiple stages of adrenal and gonadal development, and its mutations have been reported in cases of DSD.Case presentation: A 152/12-year-old teenager ...

hrp0082p3-d2-746 | Diabetes (3) | ESPE2014

Current Status of Diabetes Management, Glycemic Control and Complications in Children and Adolescents with Diabetes: a Registry-Based Study in Egypt: Where Do We Stand Now? and Where Do We Go from Here?

Elbarbary Nancy , Elsamahy Mona , Elmorsi Hala

Background: Given that diabetes is an extremely common disorder in Egypt, the Diabetes Registry was designed by Pediatric Diabetes Clinic, Ain Shams University Hospital in the year 2010.Aim: Identify risk factors related to poor glycemic control and to provide data to health professionals for use in planning, evaluation, and optimizing diabetes care in those patients.Subjects and methods: The registry was designed to provide inform...

hrp0092p1-77 | GH and IGFs | ESPE2019

Severe IGF-I Deficiency in Children with Normal Growth Hormone (GH) Secretion and Excluded GH Insensitivity – is it Really Idiopathic Short Stature?

Joanna Smyczynska , Urszula Smyczynska , Andrzej Lewinski , Maciej Hilczer

According to current recommendations, children with height SDS <-3.0, normal growth hormone (GH) peak in stimulation tests (stimGH) and severe IGF-I deficiency (IGFD) may be diagnosed with primary IGFD and treated with recombinant IGF-I. The need for direct confirmation of GH insensitivity is a matter of discussion. On the other hand, children born small for gestational age (SGA) with no catch-up growth are qualified to GH therapy despite normal GH secretion. The fact that...

hrp0092p2-134 | Fat, Metabolism and Obesity | ESPE2019

Tumor Necrosis Factor Alpha in Metabolic Syndrome Development in Children

Ben-Skowronek Iwona , Kapczuk Iga , Mroczek Wacinska Joanna

Background: Tumor necrosis factor alpha (cachexin) is a cell signaling cytokine involved in systemic inflammation process. It is produced chiefly by activated macrophages, although it can be produced by many other cell types such as CD4+ lymphocytes, NK cells, neutrophils, mast cells, eosinophils, and neurons. The primary role of TNF alpha is the regulation of immune cells. TNF, being an endogenous pyrogen, is able to induce fever, apoptotic cell death, an...

hrp0089p2-p235 | GH &amp; IGFs P2 | ESPE2018

Hormonal Predictors of Growth Hormone Therapy Effectiveness in Children with Short Stature – Evidence from Neural Prediction Model for Final Height

Hilczer Maciej , Smyczynska Joanna , Urszula Smyczynska , Stawerska Renata , Lewinski Andrzej

Prediction of growth hormone (GH) therapy effectiveness in children with short stature is an important issue for optimizing its course. Recently, our research group has published prediction models derived with neural networks. The main predictors of final height (FH) in our model were: patient’s height SDS at therapy onset, pre-treatment change of height SDS (HSDS V0) and pre-treatment IGF-I and IGFBP-3 secretion but not the results of GH stimulation tests; the...

hrp0089p2-p237 | GH &amp; IGFs P2 | ESPE2018

Predictors of Poor Response to Growth Hormone Therapy in Children with Short Stature – Evidence from Neural Prediction Model for Final Height

Smyczynska Joanna , Smyczynska Urszula , Hilczer Maciej , Stawerska Renata , Lewinski Andrzej

Prediction of poor response to growth hormone (GH) therapy in children with short stature is an important issue for personalized approach to treatment. Recently, our research group has published prediction models derived with neural networks. The main predictors of final height (FH) in our model were: patient’s height SDS at therapy onset (H0SDS) and pre-treatment IGF-I and IGFBP-3 concentrations but not the results of GH stimulation tests; pre-treatment growth...

hrp0089p3-p266 | Multisystem Endocrine Disorders P3 | ESPE2018

Assessment of Ovarian Reserve in Young Women with Hashimoto Disease – The Pilot Study

Wedrychowicz Anna , Wojtyś Joanna , Stelmach Malgorzata , Starzyk Jerzy B

Introduction: Human ovary is commonly the target of an autoimmune attack in cases of organ- or non-organ-specific autoimmune disorders. Hashimoto’s thyroiditis (HT) is likely to be associated with ovarian dysfunction and diminished ovarian reserve. The classical hormonal test assessing ovarian reserve as early follicular phase serum levels of FSH, inhibin B and estradiol (E2), which are interdependent, and the calculation of the number of antral follicles by transvaginal ...