hrp0098fc1.6 | Diabetes and Insulin | ESPE2024

Comprehensive rescreening of the known congenital hyperinsulinism genes provides a new genetic diagnosis for 18% of the Finnish cohort

M E Männistö Jonna , A L Houghton Jayne , Keskinen Päivi , Hopkins Jasmin , Raivo Joose , Otonkoski Timo , Huopio Hanna , E Flanagan Sarah

Background: Congenital hyperinsulinism (HI) is a group of insulin secretion disorders with highly heterogeneous genetic aetiologies, which may significantly impact on treatment and follow-up. Genetic diagnosis is unsolved in up to 50% of the individuals, but the benefits of retesting including all the recent genetic discoveries has not been previously assessed.Aim: We examined the effectiveness of rescreening the known H...

hrp0095p1-315 | Growth and Syndromes | ESPE2022

A Novel PADI6 Variant as a Cause of Recurrent Miscarriage and Multi Locus Imprinting Disturbance within the same family

Stern Eve , Goldman Shira , De Franco Elisa , E Flanagan Sarah , Pinhas-Hamiel Orit , Regev Miriam

Background: Genomic imprinting is the process by which preferential methylation of one parental allele results in parent of origin specific expression of particular genes. Methylation is established during gametogenesis and is maintained throughout development. Alterations in any of the processes in the establishment and maintenance of methylation can lead to aberrant imprinting, which can result in either reactivation of the original silent allele or the sile...

hrp0095p1-141 | Multisystem Endocrine Disorders | ESPE2022

A Case with Primrose Syndrome and What He Taught

Orman Burçe , Sezer Abdullah , Keskin Melikşah , Savaş Erdeve Şenay , Çetinkaya Semra

Introduction: Primrose syndrome was defined in 1982. It is characterized by characteristic facial appearance, macrocephaly, global developmental delay, intellectualdisability and calcification in the outer ear. It occurs with loss-of-function mutations in the ZBTB20-gene. This gene is a transcriptional gene suppressor regulator and is effective on neurogenesis, glucose homeostasis, and postnatal growth. Here, a case with Primrose syndrome will be presented.</p...

hrp0095lb5 | Late Breaking | ESPE2022

Incidence and Severity of Type 1 Diabetes Mellitus during COVID-19 Pandemic

Dieguez Abigayil , DeLacey Sean , Lado Juan , Levin Laura , Ranganna Adesh , Wu Margaret , E. Bianco Monica

Background: The COVID-19 pandemic continues to impact healthcare overall particularly in relation to diabetes. Initial studies showed delays in emergent healthcare utilization, decreased preventative care visits, and more severe presentations of new onset diabetes. However, the pathophysiologic relationship between COVID-19 and type 1 diabetes is not yet well understood.Objectives: Our primary objective was to compare th...

hrp0095lb22 | Late Breaking | ESPE2022

Maternal and Cord Blood Metabolites Associations with Childhood Glucose Outcomes in the Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study.

E. Bianco Monica , Hai My , Scholtens Denise , Josefson Jami , Lowe William , Jr

Background: Maternal triglycerides, fatty acids, and their metabolites together with sugars and metabolic intermediates may play a role in newborn outcomes. Furthermore, maternal amino acids, acylcarnitines, lipids and fatty acids and their metabolites are associated with cord C-peptide independent of maternal BMI and glycemia, highlighting the potential contribution of maternal metabolites to offspring outcomes. This study examined the associations of materna...

hrp0095p2-265 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Gynecomastia and Short Height;45,X[2]/ 46,X, +mar[28] karyotype

Derya Buluş Ayşe , Dünya Betül , Yaşartekin Yüksel , Cevdet Ceylan Ahmet

Introduction: Physiological pubertal gynecomastia is common in adolescents aged 13-14 years. Most physiological pubertal gynecomastia regresses spontaneously within 1-2 years. In studies: If it lasts more than 2 years, if prepubertal has started, endocrine evaluation is recommended. Sex differentiation disorders or genital abnormalities such as increased aromatase activity, adrenal/testicular neoplasia, partial androgen insensitivity syndrome and Klinefelter s...

hrp0092p1-309 | Diabetes and Insulin (2) | ESPE2019

Level of Glycemic Control in Pediatric Patients with Type 1 Diabetes in Bern: A Cross-Sectional Study

Ch. Zingg Tanja , Dennig Michelle , Sommer Grit , Flück Christa E.

Background: Good glycemic control prevents long-term complications of microvascular and macrovascular diseases in type 1 diabetes (T1DM).We aimed to investigate whether our patients had A1c values <7.5% as recommended by ISPAD and how therapy modality, duration of diabetes and pubertal status affected the metabolic control of our patients. We also set out to compare our quality of care with our results of 2008 and with other publ...

hrp0092p1-404 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Improvement of Final Height in Idiopathic Central Precocious Puberty is Associated with Delay of Bone Maturation with GnRH Agonist Therapy Under the Age of 7 Years

Vuralli Dogus , Gonc E. Nazli , Ozon Z. Alev , Kandemir Nurgun , Alikasifoglu Ayfer

Background: GnRHa therapy is shown to be beneficial in increasing final height when started before 6 years of age in girls with idiopathic CPP(iCPP). However controversial data exist in improvement of final height whose pubertal signs appear after age of 6.Aim: To investigate effect of age of onset of GnRHa therapy on final height n girls with iCPP, and to evaluate factors affecting height gain.<st...

hrp0092p2-149 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Clinical and Genetic Characteristics of Patients with Hyperinsulinaemic Hypoglycaemia Diagnosed and Treated at a Tertiary Endocrine Center, a part of the ENDO-ERN

Galcheva Sonya , Iotova Violeta , Ellard Sian , Chuperkova Jivka , Bazdarska Yuliya , Bocheva Yana , Flanagan Sarah E.

Background: Hyperinsulinaemic hypoglycaemia (HH) is a clinically and genetically heterogeneous group of disorders characterized by persistent hypoglycaemia due to inappropriate insulin secretion from the pancreatic β-cell.Aim: The objective was to analyze the demographic, clinical and genetic characteristics of patients with HH, diagnosed and/or treated at a tertiary endocrine center, part of the European referen...

hrp0092p2-223 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Long Term Effects of GnRH Agonist Therapy on BMI in Girls with Idiopathic Central Precocious Puberty

Vuralli Dogus , Ozon Z. Alev , Gonc E. Nazli , Alikasifoglu Ayfer , Kandemir Nurgun

Background: Studies investigating effects of GnRHa therapy on body weight (BW) and BMI in subjects with CPP are generally including short term effects.Aim: To investigate changes in BMI at the beginning, during and two years after completion of GnRHa therapy to determine influential factors in girls with idiopathic CPP.Methods: Data of 138 girls who completed GnRHa therapy for iCPP...