hrp0086p1-p136 | Bone & Mineral Metabolism P1 | ESPE2016

Growth Characteristics of a Girl with Multicentric Carpo-Tarsal Osteolysis Caused by Novel Mutation in the MAFB Gene

Dusatkova Lenka , Potuznikova Kristyna , Zemkova Daniela , Marik Ivo , Rozenkova Klara , Lebl Jan , Pruhova Stepanka , Sumnik Zdenek

Background: Recently, mutations in the highly conserved transactivation domain of MAFB gene have been identified as a cause of multicentric carpo-tarsal osteolysis (MCTO), rare skeletal disorder characterised by extensive bone resorption predominantly of the carpal and tarsal bones and frequently accompanied by progressive renal impairment. The MAFB is a basic leucine zipper transcription factor that is involved in the regulation of osteoclastogenesis and renal develo...

hrp0094p2-297 | Growth and syndromes (to include Turner syndrome) | ESPE2021

The efficacy and safety of recombinant biosimilar growth hormone treatment in children with GHD and SGA: a Czech retrospective national longitudinal study

Snajderova Marta , Zemkova Daniela , Sumnik Zdenek , Zapletalova Jirina , Pomahacova Renata , Pruhova Stepanka , Cermak Jakub , Sadovska Barbora ,

Objectives: Recombinant growth hormone (rhGH) treatment helps to achieve a final height close to the parental growth potential in children with GH deficiency (GHD) and small for gestational age (SGA). Less is known about efficacy and safety of long term therapy with biosimilar rhGH. The aim of our study is to assess height gain and safety of therapy with biosimilar rhGH (Omnitrope®, Sandoz) in Czech children with GHD and SGA over the first three years of ...

hrp0089p1-p033 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Comparison of Manual and Automated Bone Age Assessment in 1285 Children and Adolescents Aged 5 to 16 Years

Maratova Klara , Zemkova Daniela , Lebl Jan , Soucek Ondrej , Pruhova Stepanka , Kolouskova Stanislava , Snajderova Marta , Krasnicanova Hana , Sumnik Zdenek

Background: Skeletal maturation is the most reliable indicator of biological age in children and adolescents. The evaluation of hand and wrist X-Ray according to Tanner-Whitehouse (TW3) or Greulich-Pyle (GP) are the most commonly used methods for biological age assessment. Automated bone age assessment has recently become increasingly popular, however a large independent study comparing automated and manual evaluation of bone age is still missing. The aim of this study was to ...

hrp0084fc5.5 | Endocrine Oncology/Turner | ESPE2015

Hereditary Turner Syndrome 46,X,rec(X)inv(p21q28) in Six Women and Four Generations: Estimation of Skeletal Effects of GH Treatment

Stoklasova Judith , Kaprova Jana , Trkova Marie , Nedomova Vera , Zemkova Daniela , Soucek Ondrej , Matyskova Jana , Sumnik Zdenek , Lebl Jan

Background: Terminal Xp-deletion causes a variant of Turner syndrome (TS). Several studies described the associated phenotype: gonadal function is generally preserved and short stature is the major clinical feature.Case presentation: We present a family with vertical transmission of TS affecting six women in four subsequent generations. SNP-array indicates that the chromosomal aberration in this family includes terminal Xp-deletion and terminal Xq-duplic...

hrp0094p2-309 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Early-onset growth hormone treatment in Prader-Willi syndrome attenuates the risk of transition to severe obesity

Kodytkova Aneta , El Lababidi Eva , Čermakova Ivana , Černa Jana , Čižek Jindřich , Dvořakova Marcela , Kalvachova Božena , Magnova Olga , Neumann David , Novotna Dana , Obermannova Barbora , Plašilova Ivana , Pomahačova Renata , Průhova Štěpanka , Strnadel Jiři , Škvor Jaroslav , Šnajderova Marta , Šumnik Zdeněk , Zapletalova Jiřina , Kusalova Kateřina , Šilar Jiři , Kolouškova Stanislava , Zemkova Daniela , Lebl Jan ,

Background: Following a phase of feeding difficulties and underweight in early life, children with Prader-Willi syndrome (PWS) develop hyperphagia and a tendency towards severe obesity. Growth hormone therapy (GH) has been approved in PWS to compensate their growth failure but may exert also additional effects on muscle component and body composition as well.Objectives: We aimed to test if an early initiation of GH thera...