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...

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...

hrp0095p1-43 | Diabetes and Insulin | ESPE2022

The spectrum of paediatric diabetes subtypes from a single center in a highly consanguineous region

Anne Amaratunga Shenali , Hussein Tayeb Tara , Nabaz Muhamad Sediq Rozhan , Karem Hama Salih Fareda , Dusatkova Petra , Pruhova Stepanka , Lebl Jan

Introduction: Monogenic diabetes has been estimated to be 1 - 6% of all diabetic cases in European countries which are primarily non consanguineous populations, while the incidence in highly consanguineous areas is insufficiently defined. However, the genetic aetiology of monogenic diabetes has been shown to be widely different in areas with prevalent consanguinity compared to areas with lower rates. In this single-centre study, we aimed to evaluate the preval...

hrp0094p1-57 | Bone B | ESPE2021

High rate of positive genetic findings in children born small for gestational age with persistent short stature (SGA-SS): Growth plate genes as key regulators of intrauterine growth

Toni Ledjona , Plachy Lukas , Dusatkova Petra , Anne Amaratunga Shenali , Kolouskova Stanislava , Obermannova Barbora , Snajderova Marta , Sumnik Zdenek , Pruhova Stepanka , Lebl Jan ,

Background: Ten percent of children born small for gestational age fail to catch-up and remain short during childhood (SGA-SS). Several genes causing SGA-SS have been described, however, in most cases, the mechanisms of prenatal and postnatal growth impairment remain unknown.Aim: To decipher genetic etiologies within a large single-center cohort of SGA-SS children in order to better understand the pathophysiological mech...

hrp0095ha2 | The genetic landscape of children born small for gestational age with persistent short stature | ESPE2022

The genetic landscape of children born small for gestational age with persistent short stature

Toni Ledjona , Plachy Lukas , Dusatkova Petra , Anne Amaratunga Shenali , Elblova Lenka , Sumnik Zdenek , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Pruhova Stepanka , Lebl Jan

Background: Approximately 10% of children born small for gestational age (SGA) fail to catch-up nd remain short (SGA-SS). Although several mechanisms causing SGA-SS have been elucidated, the primary cause remains speculative in most cases.Aim: To decipher genetic causes of SGA-SS defined as birth length and/or birth weight <-2 SD for gestational age, and body height <-2.5 SD after the 3rd year of life within a larg...

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...

hrp0095rfc9.5 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pubertal milestones in Prader-Willi syndrome: Is there a role of genetic subtypes and MKRN3 status?

Kodytková Aneta , Dušátková Petra , Anne Amaratunga Shenali , Koloušková Stanislava , Obermannová Barbora , Pomahačová Renata , Průhová Štěpánka , Šnajderová Marta , Šumník Zdeněk , Zapletalová Jiřina , Lebl Jan

Background: Subtle phenotypic differences have previously been described among children with varied genetic subtypes of Prader-Willi syndrome (PWS) – 15q11-q13 paternal microdeletion, maternal uniparental disomy (mUPD), and rare imprinting center defects. The MKRN3 gene, located on 15q11.2, is a master regulator of pubertal initiation and is a candidate gene for abnormal pubertal development in PWS.Objective and hy...