hrp0094p2-231 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Hyperinsulinaemic hypoglycaemia as a MEHMO syndrome component: a case report

Gubaeva Diliara , Melikyan Maria ,

Introduction: MEHMO syndrome (mental retardation, epileptic seizures, hypogenitalism, microcephaly, and obesity) is a rare X-linked disorder causes by EIF2S3 gene mutations. This gene encodes a key factor for integrated stress response and initiation of protein synthesis. Since many hormones are proteins or peptides by nature, some of the reported cases of MEHMO syndrome include endocrine disorders: hypopituitarism (hypogonadism, growth hormone defici...

hrp0097p1-87 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

A novel CACNA1D mutation leading to severe diazoxide unresponsive CHI

Melikyan Maria , Gubaeva Diliara , Novokreschennih Evgeniya

Introduction: Approximately 25% of congenital hyperinsulinism (CHI) patients are unresponsive to medical therapy. These cases are usually associated with inactivating ABCC8/KCNJ11 genes mutations or rarely with dominant GCK variants. Activating dominant mutations in the CACNA1D gene were recently found to cause mild form of CHI, muscle hypotonia and autistic features.Objectives: Herein we descr...

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 ...

hrp0089rfc7.1 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Next Generation Sequencing Results in 142 Patients with Congenital Hyperinsulinism

Gubaeva Diliara , Melikyan Maria , Vasiliev Eugeny , Petrov Vasily , Tiulpakov Anatoly

Congenital hyperinsulinism (CHI) is a life-threatening disorder characterized by hypoglycemia due to dysregulated secretion of insulin from pancreatic β-cells. Genetic diagnosis is essential for patient management. NGS technologies give the ability to generate large amounts of sequence data in a relatively short amount of time. We report next generation sequencing (NGS) results in 142 patients (66 boys, 76 girls) with CHI seen at Endocrine Research Centre (Moscow...

hrp0089p2-p181 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Clinical characteristics of Congenital Hyperinsulinism Caused by Dominant KCNJ11/ABCC8 Mutations

Melikyan Maria , Gubaeva Diliara , Tyulpakov Anatoliy , Kareva Maria

Congenital hyperinsulinism (HI) is the most common cause of hypoglycemia in children and infants. It is characterized by a dysregulation of insulin secretion from pancreatic β-cells and mostly associated with recessive inactivating mutations in the β-cell ATP-sensitive potassium (KATP) channel genes – KCNJ11 and ABCC8. Dominantly inherited mutations in these genes are usually associated with mild forms of diazoxide responsive HI. Rec...

hrp0089p3-p178 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Congenital Hyperinsulinism in Children with Beckwith-Wiedemann Syndrome

Gubaeva Diliara , Melikyan Maria , Didi Mohammed , Senniappan Senthil

Introduction: Beckwith-Wiedemann syndrome (BWS) is a multisystem imprinting disorder. Approximately 50% of patients with BWS develop congenital hyperinsulinism (CHI). In this report, we describe the main clinical features in a group of patients with BWS and CHI.Study: Clinical and laboratory data was collected from all patients with BWS under the care of endocrine units at Alder Hey Children’s Hospital (Liverpool, UK) and Endocrine Research Centre (...

hrp0086p1-p619 | Growth P1 | ESPE2016

Mutations in PROP1 Gene in Combination with 47,XYY Karyotype: Case Report

Pankratova Maria , Gubaeva Diliara , Kareva Maria , Tiulpakov Anatoly , Peterkova Valentina

Background: Mutations in PROP1 gene are the most common known genetic cause of multiple pituritary hormone deficiency. It is characterized by somatolactotroph, thyrotroph, gonadotroph and sometimes corticotroph deficiencies and pituitary hyper- or hypoplasia. The karyotype 47,XYY occurrs in 1 in every 1000 live male birth. Some studies report that the phenotype of XYY syndrome includes tall stature, behavioral problems and low fertility.Objectiv...

hrp0094p1-74 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Pancreatic glucagon-like-peptide-1 receptor expression in congenital hyperinsulinism

Gubaeva Diliara , Proshchina Alexandra , Krivova Yuliya , Melikyan Maria ,

Background: Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycaemia. Current treatment lacks efficiency, and so are methods for differential diagnosis of diffuse and focal histological forms. Novel diagnostic and treatment approaches with the use of another hormone – glucagon-like-peptide-1 (GLP-1) – have been developed. GLP-1 is one of the key factors for maintaining euglycaemia. It stimulates insulin secretion...

hrp0094fc7.6 | Fetal Endocrinology and Multisystem Disorders | ESPE2021

Reassessment of 18F-DOPA PET cut-offs in congenital hyperinsulinism

Gubaeva Diliara , Ryzhkova Daria , Nikitina Irina , Mitrofanova Lubov , Tiulpakov Anatoly , Melikyan Maria ,

Introduction: Congenital hyperinsulinism (CHI) is a rare but severe condition causing persistent hypoglycaemia. Approximately 30-40% of patients require surgical treatment. Extent of surgery depends on the histological form of the disease: subtotal pancreatectomy is done in diffuse CHI, whereas pancreatic resection is recommended in focal CHI.18F-DOPA PET scan is a gold-standard imaging technique that helps in differential diagnosis of diffuse and f...

hrp0097p1-478 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Whole-exome sequencing results in patients with congenital hyperinsulinism.

Melikyan Maria , Gubaeva Diliara , Bolmasova Anna , Kolodkina Anna , Tiulpakov Anatoly , Bogdanov Viktor , Peterkova Valentina

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...