ESPE Abstracts

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...

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 ...

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...

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...

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...

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 ...

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...

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...

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 (...

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...