hrp0092fc12.2 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

NPR2 Gene Mutations were Found in 5.4% Children with Familial Short Stature

Plachy Lukas , Petruzelkova Lenka , Strakova Veronika , Elblova Lenka , Kucerova Petra , Obermannova Barbora , Kolouskova Stanislava , Snajderova Marta , Zemkova Dana , Dusatkova Petra , Lebl Jan , Sumnik Zdenek , Pruhova Stepanka

Introduction: C-type natriuretic peptide receptor encoded by NPR2 gene stimulates chondrocyte differentiation and hypertrophy and extracellular matrix production within the growth plate. The phenotypical spectrum of NPR2 mutations is broad, from severe autosomal recessive acromesomelic dysplasia to milder autosomal dominant growth disorders. Some children with NPR2 variants are treated with growth hormone (GH), however, with the inco...

hrp0089p2-p270 | Growth & Syndromes P2 | ESPE2018

A Homozygous Pathogenic Variant in the TRHR Gene in a Boy Who Presented With Severe Familial Short Stature and Central Hypothyroidism

Šnajderova Marta , Plachy Lukaš , Strakova Veronika , Elblova Lenka , Dušatkova Petra , Zemkova Dana , Lebl Jan , Pruhova Štěpanka

Introduction: Congenital central hypothyroidism (CCH) is a rare disease with inappropriate thyroid hormone secretion due to impaired TSH stimulation. TSH levels are not elevated; the patients are not diagnosed in TSH-based newborn screening. Biallelic variants in TRHR gene (encoding TRH receptor) are one of four genetic defects known to cause isolated CCH (THRH, THSB, IGSF1, TBL1X). The phenotype is variable but generally mild (neon...

hrp0089rfc3.3 | Diabetes and Insulin 1 | ESPE2018

Significant Prevalence of Severe Monogenic Immune Defects Among Children with Type 1 Diabetes and Low T1D-Genetic Risk Score

Pruhova Stepanka , Strakova Veronika , Elblova Lenka , Johnson Matthew B , Dusatkova Petra , Obermannova Barbora , Petruzelkova Lenka , Kolouskova Stanislava , Snajderova Marta , Fronkova Eva , Svaton Michael , Lebl Jan , Hattersley Andrew T , Sumnik Zdenek

Introduction: Monogenic Type 1 diabetes (T1D) is a rare disease caused by pathogenic variant in a single gene leading to dysregulation of immune system. T1D is combined with other autoimmunity like immune cytopenias, inflammatory bowel disease, rheumatoid arthritis, atopic eczema, autoimmune thyroid disease etc in these patients. Pathogenic variants in the AIRE, FOXP3, LRBA, IL2RA, CTLA4, STAT3 and STAT1 genes have...

hrp0089p1-p176 | Growth & Syndromes P1 | ESPE2018

Growth Plate Disorders are the Main Cause of Severe Familiar Short Stature in Children Classified and Treated with Growth Hormone as SGA or GHD

Plachy Lukaš , Strakova Veronika , Elblova Lenka , Dušatkova Petra , Obermannova Barbora , Šnajderova Marta , Kolouškova Stanislava , Zemkova Dana , Šumnik Zdeněk , Lebl Jan , Průhova Štěpanka

Introduction: Familiar short stature (FSS) is a common variant of growth with heterogeneous etiology. Children with FSS are often excluded from further check-up and treatment. However, significant number of children with FSS comply even with the European criteria for growth hormone (GH) therapy – patients with SHOX-deficiency, growth hormone deficiency (GHD) or these born short for gestational age (SGA). The aim of the study was to identify genetic etiology of short statu...