hrp0089p3-p242 | Growth & Syndromes P3 | ESPE2018

A Case of Hutchinson-Gilford Progeria Syndrome (HGPS) due to a Pathogenic LMNA Variant c.433G>A (p.Glu145Lys): Growth Hormone Administration Failed to Improve Growth and Long-term Outcome

Toni Ledjona , Dušatkoa Petra , Novotna Dana , Zemkova Dana , PrUhova Štěpanka , Lebl Jan

Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare condition (estimated incidence 1:4–8 million), caused by mutations in LMNA gene, which leads to premature aging. Median life expectancy is shortened to 13 years due to vascular complications such as stroke or myocardial infarction. We present below the history of a child born with a pathogenic LMNA variant c.433G>A (p.Glu145Lys). A male patient was referred due to failure to thrive and low growth velocit...

hrp0089p2-p240 | Growth & Syndromes P2 | ESPE2018

The Validation of an Automated Bone Age Assessment in Girls with Turner Syndrome – A Pilot Study

Soucek Ondrej , Lebl Jan , Maratova Klara , Zemkova Dana , Sumnik Zdenek

Background: Bone age evaluation is a basic tool to manage the treatment of girls with Turner syndrome (TS). The current standard of care is to involve an experienced medical staff to use the Tanner Whitehouse 3 (TW3) or Greulich-Pyle (GP) method for manual evaluation of the bone age. As this is time consuming and may be partially influenced by the evaluator’s skills, automated systems may prove more efficient.Objective and hypothesis: The aim of thi...

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...

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...

hrp0095fc7.1 | Growth and Syndromes | ESPE2022

How to detect children with monogenic etiology of familial short stature?

Plachy Lukas , Petruzelkova Lenka , Dusatkova Petra , Maratova Klara , Zemkova Dana , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka

Introduction: Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected. Clinical predictors of monogenic FSS have not been elucidated thus far. The aim of the study was to identify the monogenic etiology and its clinical predictors in FSS children.Patients and Methods: Of 747 pat...

hrp0095p1-100 | GH and IGFs | ESPE2022

Aetiology of familial short stature in children diagnosed with growth hormone deficiency: what do the genes tell us?

Anne Amaratunga Shenali , Dusatkova Petra , Maratova Klara , Petruzelkova Lenka , Zemkova Dana , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka , Plachy Lukas

Introduction: The diagnosis of growth hormone deficiency (GHD) is complex, involving the combination of auxological, laboratory, and radiological findings. This includes growth hormone (GH) stimulation tests, which are done to confirm the diagnosis. It has been discussed that these tests have low specificity, potentially leading to false positive results. Therefore, children with GHD are regarded as a heterogeneous group with varied causes of short stature. Ne...

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...