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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 1

Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1)

hrp0092p1-204 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Risk Factors for Brain Injury After Transient or Persistent Hyperinsulinemic Hypoglycemia in Neonates

Roeper Marcia , Dafsari Roschan Salimi , Kummer Sebastian , Klee Dirk , Mayatepek Ertan , Sabir Hemmen , Meissner Thomas

Background: Aim of this study was to identify possible explanations why despite improved treatment options brain damage still occurs in neonates with transient or persistent hyperinsulinism. This study might serve as a basis for future research to improve the management of neonatal hypoglycemia reducing brain injury in these children.Material and Methods: A retrospective medical chart review was conducted at the Universi...

hrp0092p1-205 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Central Hypoventilation Syndrome and Hyperinsulinameic Hypoglycaemia

Dastamani Antonia , Yau Daphne , Gilbert Clare , Morgan Kate , Banerjee Indie , Shah Pratik

Objectives: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction and both hyperglycaemia as well as hyperinsulinaemic hypoglycaemia (HH) have been reported. Although the mechanism is unclear, autonomic dysfunction may underlie this dysregulation of glucose homeos...

hrp0092p1-206 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Unusual Congenital Hyperinsulinism Case in a Patient with a Pathogenic GCK Mutation

Gubaeva Diliara , Kareva Maria , Milovanova Natalia , Tiulpakov Anatoly , Melikyan Maria

Dominant activating mutations in GCK gene are known to be the cause of congenital hyperinsulinism (CHI). Patients with GCK mutations can have a wide range of clinical presentations, varying from asymptomatic adult onset hypoglycemia to medically unresponsive severe neonatal onset HI. Overall, 5 of 214 (2.3%) patients diagnosed with HI over the last 10 years in Russia were found to carry pathogenic variants of GCK gene. Only 2 of these 5 patients ...

hrp0092p1-207 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Clinical characteristics and long term follow up of 17 patients with permanent neonatal diabetes due to PTF1A distal enhancer mutations

Demirbilek Huseyin , Cayir Atilla , DeFranco Elisa , Kor Yilmaz , Yildiz Melek , Yildirim Ruken , Baran Riza Taner , Demiral Meliha , Haliloglu Belma , Flanagan Sarah E , Ellard Sian , Hussain Khalid , Ozbek Mehmet Nuri

Background: Pancreas transcription factor-1 alpha (PTF1A), encoded by the PTF1A gene, is a beta helix loop(bHLH) protein which involved in the development of the pancreas and cerebellar neurogenesis. Although mutations of PTF1A cause permanent neonatal diabetes(PNDM), pancreas agenesis and cerebellar agenesis, PTF1A enhancer mutations reported causing PNDM and isolated pancreas agenesis. In the present study, we evaluate the phenotyp...

hrp0092p1-208 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Transient Gonadal Activation and Infant Growth Velocity

Kilinç Suna , Hamilçikan Sahin , Atay Enver , Atay Zeynep

Background: Hypothalamic-pituitary-gonadal axis is activated during the first 6 months of life, called as mini-puberty in which reproductive hormone levels may reach to adult levels. Although, our understanding of the pathophysiology of sex steroids interaction with growth in puberty is increasing, very little is known about the relationship between sex steroids and growth at this period of life.Material and Methods: 142...

hrp0092p1-209 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Urogenital Abnormalities in Children Conceived by Assisted Reproductive Technologies

Zyuzikova Zinaida , Volevodz Natalya , Shestakova Marina

Background: According to recent European and Russian monitoring hypospadias and cryptorchidism are the most frequent malformations of the urogenital system in children in the general population. Currently there is a lack of information about the impact of assisted reproductive technologies (ART) on the development of congenital malformations, including the urogenital system, although the presence of this abnormality could lead to male reproductive disorders.</...

hrp0092p1-210 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Subcutaneous Fat Necrosis of the Newborn: A Systematic Review of the Literature

Frank Leonie , Brandt Stephanie , Wabitsch Martin

Background: Subcutaneous fat necrosis of the Newborn (SCFN) is a rare disease occurring in the first days of life. Characteristically the infants show hard nodules in subcutaneous tissue, purple or erythematous in color and appear on the upper back, cheeks, buttocks and limbs. In most cases SCFN is a self-limiting disease, as the nodules disappear in up to 6 months. A severe complication associated with SCFN is hypercalcemia. Pathophysiological mechanisms caus...

hrp0092p1-211 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) (1) | ESPE2019

Characteristics of Children with Kabuki Syndrome and Hyperinsulinemic Hypoglycemia

Hoermann Henrike , El-Rifai Omar , Schebek Martin , Brusgaard Klaus , Bachmann Nadine , Bergmann Carsten , Mayatepek Ertan , Christesen Henrik , Meissner Thomas , Kummer Sebastian

Background: Kabuki syndrome (KS) is a rare multiple congenital malformation and intellectual disability syndrome. KS is caused by pathogenic variants in the genes KMT2D or KDM6A. In 0.3-4% of patients, KS is reported to be associated with hyperinsulinemic hypoglycemia. The objective of this study was to characterize the clinical, biochemical and molecular data of children with KS and hyperinsulinemic hypoglycemia.<s...