hrp0092p2-99 | Diabetes and Insulin | ESPE2019

A Case of Neonatal Diabetes Due to Newly Defined Mutation in the GLIS 3 Gene

Kor Yilmaz , Demet Akbas Emine , De Franco Elisa

Introduction: GLIS3 is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein that maps to chromosome 9p24.3-p23. Mutations in GLIS3 have been reported in association with Neonatal diabetes mellitus and hypothyroidism syndrome. We aimed to present a case of congenital diabetes mellitus congenital hypothyroidism associated with a newly identified mutation in the GLIS-3 gene.Case Report: A se...

hrp0092p2-90 | Diabetes and Insulin | ESPE2019

Neonatal Diabetes in Two Siblings with Foxp3 Variant

Colombi Carolina , Tornese Virginia , Pott Godoy Clara , Peña Sonia , De Franco Elisa , Guntsche Zelmira

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. This factor plays a key role in the differentiation and function of CD4+ CD25+ regulatory T cells, essential for the establishment and maintenance of natural tolerance.Objective: To describe clinic...

hrp0095p1-441 | Diabetes and Insulin | ESPE2022

NEUROD1 mutation as a cause of neonatal diabetes: the rarest of the rare!

Abdelmeguid Yasmine , Elwan Samar , De Franco Elisa , Abd Elmaksoud Marwa , Khater Doaa

Background: NEUROD1 encoding neurogenic differentiation 1 is known to play an important role in the development of the pancreas and central nervous system. Heterozygous mutations have been rarely identified as a cause of maturity-onset diabetes of the young (MODY6). Biallelic NEUROD1 mutations have been reported to cause neonatal diabetes mellitus (NDM) as well. However, only 3 cases have been reported worldwide so far....

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...

hrp0089p2-p106 | Diabetes & Insulin P2 | ESPE2018

Congenital Hyperinsulinism: Clinical and Molecular Characteristics – Fluorine-18-L-Dihydroxyphenylalanine Positron Emission Tomography (F-DOPA PET) Scan Results – Treatment Responses and Short Term Outcomes of 5 Patients

Turan Hande , Dagdeviren Cakir Aydilek , Cayir Atilla , De Franco Elisa , Ellard Sian , Sonmezoglu Kerim , Ercan Oya , Olcay Evliyaoglu Saadet

Aim: The most common cause of persistent hypoglycemia and related brain damage in infancy is congenital hyperinsulinism (CHI), due to inappropriate secretion of insülin by pancreatic ╬▓cells. The most frequent and most serious mutations are activating mutations in ABBC8 or KCNJ11 genes. Genetic analyses, which might predict the type of lesion, performed in early period and 18f dopa pet scanning are very valuable for treatment choice and follow-up of the patients. In t...

hrp0086p1-p204 | Diabetes P1 | ESPE2016

A Syndrome of Permanent Neonatal Diabetes Mellitus and Neurological Abnormalities due to a Novel Homozygous Missense c.449T>A (p.I150N) Mutation in NEUROD1 Gene

Hatipoglu Nihal , Demirbilek Huseyin , Gul Ulku , Tatli Zeynep Uzan , Flanagan Sarah , Ellard Sian , De Franco Elisa , Kurtoglu Selim

Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes presenting in the first 6 months of life. NEUROD1 is a transcriptional factor involved in the development of endocrine pancreas. A few patients with maturity onset diabetes of the young (MODY) due to heterozygous NEUROD1 mutations and only two cases with permanent NDM (PNDM) associated to neurological disorders and cerebellar hypoplasia due to homozygous mutations in the NEUROD1 gene have been reported.<...

hrp0086p1-p212 | Diabetes P1 | ESPE2016

Permanent Neonatal Diabetes Mellitus due to a Novel Homozygous GCK Mutation in a Premature Baby with IUGR and Its Management

Braha Nirit , De Franco Elisa , Dawes Adam , Sharples Kate , Moodambail Abdul , Hughes Claire , Ellard Sian , Gevers Evelien

Background: Glucokinase (GCK) acts as the glucose sensor of ╬▓-islet cells, regulating insulin secretion in response to changing glucose concentrations. Homozygous GCK mutations are a rare cause of permanent neonatal diabetes. Heterozygous mutations lead to GCK MODY, causing mild hyperglycaemia, not usually requiring treatment.Case: The index case was born to consanguineous parents at 36+2 weeks gestation, weighing 1610 g (0.4th centile). Hy...

hrp0086p1-p218 | Diabetes P1 | ESPE2016

Clinical Characteristics and Molecular Analysis of Patients with Neonatal Diabetes

Yavas Abali Zehra , Bundak Ruveyde , Bas Firdevs , De Franco Elisa , Genens Mikayir , Poyrazoglu Sukran , Ellard Sian , Hattersley Andrew , Darendeliler Feyza

Background: Neonatal diabetes mellitus (NDM) is a form monogenic diabetes diagnosed under 6 month of age.Objective and hypotheses: To describe the clinical and molecular features of NDM patients in a Turkish cohort.Method: Fifteen patients (13M, 2F) with diabetes onset before 6 months of age were included in the study. Clinical and molecular data were evaluated retrospectively.Results: Mean age at diagnosis w...

hrp0086p2-p584 | Perinatal Endocrinology P2 | ESPE2016

A Unique IL2RA Mutation Presenting as Neonatal Diabetes, Congenital Hypothyroidism and Sepsis

Sri Nagesh V. , Hattersley Andrew , Ellard Sian , De Franco Elisa , Flanagan Sarah , Naseem Altaf , Ahmed A. , Ahmed Tanveer , Venkateswarlu K.

Background: 16 year old female neonate presented with neonatal diabetes, congenital hypothyroidism and sepsis.Objective and hypotheses: To evaluate the neonate for a common cause of neonatal diabetes, congenital hypothyroidism and sepsis and to explore for the best modality of management, including a possible role for sulphonylureas.Method: The neonate born of 3rd degree consanguinity was admitted and started on insulin infusion an...

hrp0086rfc9.5 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Non-Mody Monogenic Diabetes: A Very Heterogenous and Problematic Group of Diabetes

Siklar Zeynep , De Franco Elisa , FlanagaN Sarah , Ellard Sian , Ceylaner Serdar , Boztug Kaan , Dogu Figen , Ikinciogullari Aydan , Kuloglu Zarife , Kansu Aydan , Berberoglu Merih

Background: Monogenic diabetes represents a group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes according to age of onset, with neonatal DM (<6 months of age) and maturity onset diabetes of young (MODY) (>6 months and <25 years of age); not every case can be classified into those groups.Objective and hypot...