hrp0084p3-1079 | Hypo | ESPE2015

Isolated Postprandial Hyperinsulinaemic Hypoglycaemia

Guemes Maria , Melikyan Maria , Senniappan Senthil , Hussain Khalid

Background: Only a few case reports have described isolated postprandial hyperinsulinaemic hypoglycaemia (PPHH) in children.Objectives: To describe a single tertiary paediatric centre’s experience in the management of isolated PPHH.Patients and methods: Six children (three females) were identified. A retrospective review of the clinical characteristics, diagnosis, management and follow-up of patients with PPHH was performed. I...

hrp0092p1-69 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Molecular Mechanisms of Idiopathic Ketotic Hypoglycemia in Children

Ivannikova Tatiana , Milovanova Natalya , Zakharova Ekaterina , Gubayeva Dilyara , Kareva Maria , Melikyan Maria

Idiopathic Ketotic Hypoglycemia (IKH) is the most common non-iatrogenic cause of hypoglycemia in children beyond infancy. The severity of the symptoms and frequency of hypoglycemic episodes may vary among the patients. The etiology of IKH is unclear; disturbances in gluconeogenesis, glycolysis and glycogenolysis were regarded as possible causes. Familial IKH recurrence is often observed, suggesting a genetic basis of glucose homeostasis dysregulation.We ...

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...

hrp0094p2-327 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A case of a Floating-Harbor syndrome in a child with severe short stature.

Prosvirnina Anna , Bolmasova Anna , Melikyan Maria ,

Introduction: Floating-Harbor syndrome is a rare autosomal dominant genetic disorder caused by mutations in SRCAP gene. This condition is characterized by dysmorphic facial features, short stature and expressive language delay. Here we present a clinical case of a child with Floating-Harbor syndrome.Clinical case: A girl to consanguineous healthy parents was born at 37 gestation weeks with height 47 cm (SDS=-0,46) and weight 224...

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 (...

hrp0084p3-1169 | Thyroid | ESPE2015

Large Goitre in a Patient with Congenital Hypothyroidism

Bolmasova Anna , Melikyan Maria , Narogan Marina , Podurovskaya Yulia

Background: Congenital goitre presenting in the newborn period is very rare. Here we present a case of congenital hypothyroidism with a large goitre, leading to trachea compression symptoms. Hormone replacement therapy was started leading to normal levels of TSH, FT4, and thyroid volume. In face of maternal normal thyroid levels, dyshormonogenesis considered to be the most probable cause of hypothyroidism.Case presentation: A male full term ne...