hrp0095p1-568 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Endocrine care for gender incongruent children and adolescents in The Czech Republic between 2011-2020

Neumann David , Snajderova Marta , Fifkova Hana , Weiss Petr , Zapletalova Jirina

Background: Gender incongruence (GI) is a topic of interest with major impacts on both the individual and society. In recent years, the small group of gender non-conforming children with an early GI history that persists through adolescence has been accompanied by a substantial rise in the proportion of adolescents reporting their gender doubts. The onset of gender dysphoria in this group is rapid. In the Czech Republic, multidisciplinary teams strive for high...

hrp0092lb-27 | Late Breaking Posters | ESPE2019

Does Karyotyping and in situ Hybridization from Three Different Germ Layers Elucidate Low Bone Mineral Density in Turner Syndrome?

Soucek Ondrej , Lebl Jan , Zapletalova Jirina , Vrbicka Dita , Adamova Katerina , Prochazka Martin , Klaskova Eva

Background: Turner syndrome (TS) is caused by a total or partial loss of one X chromosome. Typical features include short stature and primary amenorrhoea. In addition, decreasing trabecular bone mineral density (BMD) and increasing cortical BMD during puberty has been reported at the radius. As chromosomal aberration remains a probable cause of bone changes in TS, we aimed to elucidate whether the karyotype differs among the tissues originating from the three ...

hrp0086p1-p229 | Diabetes P1 | ESPE2016

Phenotypic Variability of Identical Mutations in the ABCC8 Gene in Two Families

Rozenkova Klara , Zapletalova Jirina , Dusatkova Lenka , Dusatkova Petra , Obermannova Barbora , Pruhova Stepanka , Lebl Jan , Sumnik Zdenek

Background: Mutations in the SUR1 subunit of the KATP channel encoded by the ABCC8 gene can result in diverse phenotypes ranging from Transient Neonatal Diabetes (TNDM) to type 2 diabetes in adulthood. These patients may benefit from sulphonylurea treatment.Objective and hypotheses: To describe the course of diabetes in two families with ABCC8 gene mutations and to assess the effect of sulphonylurea treatment.<p class="ab...

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 ...