hrp0092p3-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Growth Hormone Treatment of a Patient with X-Linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) stands for a heterogenous group of rare disorders in which excessive renal phosphate wasting is observed. The main characteristics of X-linked HR (XLHR) (OMIM #307800) caused by mutation in PHEX (phosphate-regulating endopeptidase) gene (OMIM *300550) include bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. The patie...

hrp0089p3-p031 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Growth Hormone Treatment of 2 Patients with X-linked Hypophosphatemic Rickets Caused by PHEX Mutation: Effects on Linear Growth

Rojek Aleksandra , Obara-Moszynska Monika , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene and is characterized mainly by bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. Early treatment with vitamin D and phosphate improves the patient’s growth. Recombinan...

hrp0084p3-869 | Fat | ESPE2015

Severe Hypothalamic Obesity in a Girl with Craniopharyngioma – Case Report

Obara-Moszynska Monika , Harat Marek , Niedziela Marek

Background: Hypothalamic obesity is a form of obesity syndrome associated with a variety of hypothalamic disorders including intracranial tumors, infections, trauma, vascular problems and hydrocephalus and acquired or congenital functional defects in central energy homeostasis. The pathogenetic mechanisms underlying hypothalamic obesity are multifactorial. Weight gain results from the hypothalamus damage, which leads to excessive apetite and low metabolic rate, multiple pituit...

hrp0094p1-176 | Growth Hormone and IGFs B | ESPE2021

Irisin in the growth hormone deficient children: before and on rhGH therapy.

Seifert Monika , Noczynska Anna , Wikiera Beata ,

Introduction: In recent years, one of the most frequently studied focuses is the pathophysiology of adipose and muscle tissue; however, in the literature there is no report about regulatory proteins (myokines/adipomyokines), which expression affects the body’s metabolism and communication between tissues especially in children population. Irisin (Ir) is one of the adipomyokines, which induces the conversion of white adipocytes into beige adipose tissue, a...

hrp0094p2-311 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Efficacy of recombinant growth hormone therapy in TRPS 1 syndrome coexisting with growth hormone deficiency.

Dyrka Kamil , Obara-Moszynska Monika , Niedziela Marek ,

Introduction: The tricho-rhino-phalangeal syndrome type 1 (TRPS 1), also known as Langer-Giedion syndrome, is an uncommon genetic disorder. This disease is characterized by short stature, cone-shaped ends of the long bones (epiphyses), and distinctive facial features linked to skeletal abnormalities since early childhood. The experience with recombinant growth hormone (rGH) therapy in TRPS 1 is relatively poor. The aim of the study is to present the results of...

hrp0092p2-93 | Diabetes and Insulin | ESPE2019

The Growth Hormone Treatment and Carbohydrate Metabolism in Children Born Small for Gestational Age

Labochka Dominika , Witkowska-Sedek Ewelina , Milczarek Monika , Kucharska Anna

Background: Children who were born small for gestational age (SGA) or with intrauterine growth restriction (IUGR) have increased risk of metabolic disorders such as insulin resistance, diabetes mellitus type 2 and coronary disease in adultness. Most of those children after catch-up growth achieve the same growth as their peers. Nevertheless 10 % of them persist finally short as adults. In the last decade some countries introduced the rhGH treatment to impr...

hrp0092p2-100 | Diabetes and Insulin | ESPE2019

Hypertriglyceridemia as a Complication of Severe Diabetic Ketoacidosis in Newly Diagnosed Diabetes - A case report

Hennig Matylda , Brandt-Varma Agnieszka , Luboch-Furmanczyk Monika , Mysliwiec Malgorzata

Introduction: In diabetes type 1 damage of pancreatic beta cells results in insulin deficiency and it can lead to many clinical and biochemical complications, including hypertriglyceridemia. Triglycerides level over 500mg/dl significantly increases the risk of acute pancreatitis which, in combination with ketoacidosis, can worsen the prognosis of patients.A case report: A 9 year old patient was admitted to the Pediatric ...

hrp0092p2-205 | Multisystem Endocrine Disorders | ESPE2019

Subcutaneous Ossifications in Children - Think About AHO!

Flury Monika , Quitter Friederike , Hiort Olaf , Huebner Angela

Background: Pseudohypoparathyroidism (Albright hereditary osteodystrophy (AHO)) is a rare congenital disorder mainly affecting bone and thyroid metabolism as a result of resistance of parathyroid hormone (PTH) and thyrotropin (TSH), gonadotropins, growth hormone-releasing hormone (GHRH) and calcitonin in the target tissues. According to the consensus statement "Diagnosis and management of pseudohypoparathyroidism and related disorders" published in 201...

hrp0092fc6.2 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Zone Wise Cell Separation Methods Comparison, Based on Relative Expression of Specific Growth Plate Markers in a Pig Model

Javanmardi Alireza , Raimann Adalbert , Egerbacher Monika , Sagmeister Susane , Gleiss Andreas , Haeusler Gabriele

Introduction: Longitudinal skeletal growth is achieved by enchondral ossification in epiphyseal growth plates (GP) of long bones and vertebrae. These highly organized cartilaginous tissues contain chondrocytes of all differentiational stages classified in three distinct zones named resting, proliferative and hypertrophic. Separated analysis of individual zones is essential in basic GP research thus efficiency of different zonal separation methods confers high ...

hrp0092rfc12.2 | Growth and Syndromes (to include Turner syndrome) | ESPE2019

Treatment with Growth Hormone Increases Klotho Concentration in Patients with Turner Syndrome

Wikiera Beata , Seifert Monika , Nocon-Bohusz Julita , Noczynska Anna , Daroszewski Jacek

Background: Short stature, increased adiposity and insulin resistance are conditions frequently observed in patients with Turner syndrome (TS). Many hormones are involved in the pathogenesis of the condition but therapeutic options we can offer to the patients are still scant. Each newly discovered peptide give us hope. Klotho play a very important role in the regulation of the human body metabolism and was not investigated in patients with TS so far.<p cl...