hrp0084p1-80 | Growth Hormone | ESPE2015

Good Clinical Response to the Growth Hormone Therapy in the Patient with Familiar Short Stature Caused by Novel p.Val478Serfs*14 Mutation in ACAN Gene and Isolated Growth Hormone Deficiency

Pruhova Stepanka , Dusatkova Lenka , Dusatkova Petra , Zemkova Dana , Lebl Jan

Background: Recently a heterozygote mutations in the gene ACAN coding the protein aggrecan has been described as a cause of familiar short starture combined with accelerated bone age. The aggrecan is an extracellular proteoglycan in cartilage of growth plates and plays an important role in biological and biomechanical properties of cartilage.Objective and hypotheses: To provide a genetic screening of ACAN within the families with familiar short stature a...

hrp0092p1-317 | Diabetes and Insulin (2) | ESPE2019

Unexplained Neonatal Deaths Among Kurdish Consanguineous Families: Importance of Recognizing Congenital Hyperinsulinism and Testing for KATP Channel Gene Variants

Anne Amaratunga Shenali , Tayeb Tara Hussein , Rozenkova Klara , Kucerova Petra , Pruhova Stepanka , Lebl Jan

Context: Neonatal hypoglycemia due to congenital hyperinsulinism (CHI) is a potentially life-threatening condition. Severe forms of CHI, caused by autosomal recessive variants in KATP channel subunit genes (ABCC8, KCNJ11), are more prevalent in regions with high consanguinity. These regions also have a high neonatal mortality rate with many deaths remaining unexplained.Patients and Methods: We analyze...

hrp0086rfc5.7 | Management of Disorders of Insulin Secretion | ESPE2016

Early Successful Hematopoietic Cell Transplantation (HSCT) in a Boy with IPEX Syndrome Caused by Novel C.721T>C FOXP3 Mutation

Obermannova Barbora , Formankova Renata , Sumnik Zdenek , Dusatkova Lenka , Pruhova Stepanka , Kayserova Jana , Sedlacek Petr , Lebl Jan

Background: IPEX (OMIM #304790) is a rare and fatal, X-linked immune dysregulatory disorder caused by mutation in transcription factor FOXP3 that result in either quantitative or functional deficiencies of Tregs causing autoimmune disease and allergic inflammation. HSCT is the only curative therapy available for IPEX patients.Objective: Presented boy was born at 38th GW with birth weight 3380 g and birth length 50 cm. Three maternal brothers d...

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...

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...

hrp0082p1-d2-74 | Diabetes (1) | ESPE2014

Transient Hyperglycaemia Preceded by Neonatal Hyperinsulinaemic Hypoglycaemia in an Infant with a Novel HNF1A Mutation

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

Background: The phenotype associated with heterozygous HNF1A gene mutations has recently been extended to include neonatal hyperinsulinaemic hypoglycaemia (HH) in addition to maturity-onset diabetes of the young (HNF1A–MODY).Objective and hypotheses: The baby boy was born at 38th week of gestation; BW 4110 g; BL 53 cm (LGA). The mother had gestational diabetes; her father is treated for diabetes mellitus from the age of 50 years. The boy de...

hrp0082p1-d1-203 | Reproduction | ESPE2014

Girls with Turner Syndrome have Normal Muscle Force but Decreased Muscle Power

Soucek Ondrej , Lebl Jan , Matyskova Jana , Snajderova Marta , Kolouskova Stanislava , Pruhova Stepanka , Hlavka Zdenek , Sumnik Zdenek

Background: Turner syndrome (TS) associates with decreased bone mineral density and altered bone geometry, a risk factors leading to increased fracture rate. Although hypogonadism or SHOX gene haploinsufficiency are the probable causes, the exact mechanism remains unclarified. Particularly, the muscle function as an important determinant of bone strength has yet not been widely studied in TS patients.Objective and hypotheses: We hypothesised there is mus...

hrp0084fc13.1 | Thyroid | ESPE2015

Gain of Function STAT3 Mutation in a Boy with Early Onset Autoimmune Diabetes and Thyroid Disease, Prenatal and Postnatal Growth Impairment and Lymphoproliferation

Sediva Hana , Dusatkova Petra , Dusatkova Lenka , Sumnik Zdenek , Kolouskova Stanislava , Pruhova Stepanka , Lebl Jan

Background: Recently, a new monogenic cause of multiple immune system disorders and short stature has been attributed to germline activating mutations in the STAT3 gene encoding signal transducer and activator of transcription 3. Possible pathophysiological mechanisms include enhanced proliferation and activation of T-helper 17 cells and inhibition of regulatory T-cells by STAT3, as described in in vitro studies.Case presentation: The a...

hrp0094p1-56 | Bone B | ESPE2021

Chondrocyte regulating and other growth plate genes are invaluable growth regulators: a study on children with short stature from 55 consanguineous families

Anne Amaratunga Shenali , Tayeb Tara Hussein , Dusatkova Petra , Elbova Lenka , Pruhova Stepanka , Lebl Jan ,

Introduction: Statural growth is regulated by multiple genetic, epigenetic and environmental mechanisms. The GH-IGF-1 axis was long believed to be the main linear growth regulator in children until more recent studies showed that the complex regulation of growth plate chondrocytes play an equal role. In order to extend our knowledge about the genes involved in short stature, we studied a unique cohort of children with short stature from consanguineous families...

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 ...