hrp0092fc6.3 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Decreased Trabecular Bone Mineral Density and Muscle Area at the Forearm Despite Improvement in Glycaemic Control Over 3 Years After Simultaneous Pancreas Kidney Transplantation

Soucek Ondrej , Maratova Klara , Sumnik Zdenek , Brunova Jana , Kratochvilova Simona

Background: Simultaneous pancreas kidney transplantation (SPKT) is a standard treatment option for young adults with type I diabetes (T1D) and concurrent renal failure. Despite the long-term immunosuppressive therapy the patients have better glycemic control, normalized renal function and an improved quality of life. Whether this is also reflected in the skeleton is not that clear yet.Methods: Patients were prospectively...

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...

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 ...

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...

hrp0095rfc7.3 | Growth and Syndromes | ESPE2022

Genetic analysis of children with clinically non-syndromic tall stature

Adamovicova Katerina , Plachy Lukas , Dusatkova Petra , Lebl Jan , Maratova Klara , Sumnik Zdenek , Neuman Vit , Petruzelkova Lenka , Snajderova Marta , Obermannova Barbora , Kolouskova Stanislava , Malikova Jana , Pruhova Stepanka

Introduction: The genetic investigation of tall stature (TS) is routinely indicated only in children with clinical suspicion of a specific syndrome associated with TS. After ruling out an endocrine disorder, the remaining tall children mostly receive a clinical diagnosis of “idiopathic” (ITS) or “familial” tall stature (FTS). The aetiology of their TS remains unknown.Aims: To elucidate genetic cau...

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...

hrp0097fc4.2 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Genetic and phenotypic features of children with familial tall stature

Gregorova Katerina , Plachy Lukas , Dusatkova Petra , Maratova Klara , Lebl Jan , Kolouskova Stanislava , Snajderova Marta , Sumnik Zdenek , Obermannova Barbora , Neuman Vit , Pruhova Stepanka

Introduction: Familial tall stature (FTS) is defined as height taller than +2 SD in a subject growing within his/her midparental height (MPH) with no apparent dysmorphic features. FTS is routinely not an indication for genetic investigation. However, some subtle dysmorphic features of various genetic disorders might be missed justifying the need for further investigation.Aims: To elucidate the genetic cause of FTS and to...

hrp0097rfc11.1 | GH and IGFs | ESPE2023

The genetic aetiology of primary multiple pituitary hormone deficiency: a next-generation sequencing analysis of a single-centre cohort.

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

Introduction: Primary multiple pituitary hormone deficiency (MPHD) is caused by impaired development of the pituitary gland during the intrauterine period. Pathogenic variants in numerous genes affecting pituitary morphogenesis or differentiation have been proven to cause MPHD. However, in most people, genetic examination still fails to bring a conclusive finding explaining the cause of MPHD. The aim of our study was to identify the genetic aetiology of MPHD u...