hrp0084p3-782 | DSD | ESPE2015

The Time of First Presentation at the Department of Paediatric Endocrinology of Patients with 46, XY DSD

Kolesinska Zofia , Niedziela Marek

Background: The atypical appearance of the external genitalia in a neonate, defined as the external masculinization score (EMS) less than 11, should incline the clinicians to perform diagnostic procedure ideally managed by a multidisciplinary team in a tertiary centre. Among the patients with disorders of sex development (DSD), the most challenging subgroup in terms of aetiology, is the subgroup with 46, XY karyotype.Objective and hypotheses: To study th...

hrp0084p3-957 | GH & IGF | ESPE2015

Somatotropic Pituitary Insufficiency in Kearns-Sayre Syndrome – The Clinical Picture, Genetic Diagnosis and Efficacy of rhGH Therapy

Rojek Aleksandra , Niedziela Marek

Background: Kearns-Sayre syndrome (KSS, OMIM #530000) is a rare disease belonging to a heterogeneous group of mitochondrial cytopathies. KSS is caused by deletions and/or duplications in the mitochondrial DNA, which lead to the dysfunction of the respiratory chain and to disorders in tissues with a high energy demands (muscle, nervous system).Case presentation: The girl was admitted to the hospital at the age of 13 years with the suspision of KSS. Progre...

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...

hrp0092rfc5.2 | Thyroid | ESPE2019

Ultrasound Features of Multinodular Goiter in DICER1 Syndrome

Niedziela Marek , Muchantef Karl , Foulkes William D

Background: DICER1 syndrome is caused by germline mutations in the DICER1 gene. It is associated with a wide spectrum of benign and malignant neoplasms, which are accompanied by specific somatic mutations in DICER1. Multinodular goiter (MNG) is a common clinical feature of DICER1 syndrome in children and adults; the thyroid ultrasound (US) features of MNG in the setting of DICER1 syndrome have not been widely reported.<...

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 &amp; 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...

hrp0089p1-p267 | Thyroid P1 | ESPE2018

Evaluation of Serum Concentrations of Selected Cytokines OPG and sRANKL in the Diagnosis of Autoimmune Thyroid Disease in Children

Mikos Hanna , Mikos Marcin , Niedziela Marek

Chronic autoimmune thyroiditis (cAIT) and Graves’ disease (GD) is the most common autoimmune disorders in children, associated with induction of inflammation and autoimmunity process. OPG, a cytokine receptor which mediates suppressive effect on osteoclastogenesis and its soluble ligand RANKL (sRANKL) are regulators of inflammation and may be a link between bone, autoimmune disease, and vasculature.Aim of the study: We hypothesized that cytokines OP...

hrp0086p2-p166 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Diversity in Phenotype of Two Siblings and their with X-Linked Hypophosphatemic Rickets due to PHEX Mutation

Rojek Aleksandra , Kolesinska Zofia , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. The dominant form of X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene. XLHR phenotype is characterized mainly by rickets, bone deformities, short stature, dental anomalies, hypophosphatemia, low renal phosphate reabsorption, normal serum calcium level, hypocalciuria, normal/low serum level of vitamin D (1,25(O...

hrp0086p1-p922 | Thyroid P1 | ESPE2016

Evaluation of the Usefulness of Serum Cytokines IL-1β and sFasL Measurements in the Diagnosis of Autoimmune Hypothyroidism and Hyperthyroidism in Children

Mikos Hanna , Mikos Marcin , Niedziela Marek

Background: Autoimmune thyroid diseases (AITD) are one of the most common organ-specific autoimmune disorders, of which Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are 2 of the most common clinical expressions. HT is characterized by hypothyroidism (hypoT) that results from the destruction of the thyroid by specific T cell-mediated cytotoxicity. In contrast, GD is characterized by hyperthyroidism (hyperT) induced by thyrotropin receptor-specific stimulatory...

hrp0082p1-d1-243 | Thyroid | ESPE2014

Evaluation of Serum Cytokines IL-6 and Osteoprotegerin Measurements in the Diagnosis of Chronic Autoimmune Thyroiditis and Graves’ Disease in Children

Mikos Hanna , Mikos Marcin , Niedziela Marek

Background: Chronic autoimmune thyroiditis (cAIT) and Graves’ disease (GD) are the most common autoimmune disorders in children. Proinflammatory cytokine such as IL-6 has been generally associated with the induction of inflammation and autoimmunity. Osteoprotegerin, a soluble glycoprotein and a member of the tumor necrosis factor receptor (TNFR) family, play an important role in bone homeostasis and in vasculature.Objective and hypotheses: The aim o...