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Background: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in the calcium-sensing receptor can cause familial hypocalciuric hypercalcaemia (FHH) or neonatal sever hyperparathyroidism (NSHPTT). NSHPT represents the most sever expression of FHH and courses as life threatening condition.Objective and hypotheses: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in...

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hrp0084p3-673 | Bone | ESPE2015

Successful Treatment of Severe Hypercalcemia in an Infant with Williams Syndrome Using a Single Infusion of Pamidronate Followed by Low Calcium Diet

Odeh Rasha , Albaramki Jumana , Alassaf Abeer

Background: 15% of patients with Williams syndrome develop hypercalcemia that is described as mild and transient. There are, however, reported cases with severe hypercalcemia that did not respond to traditional therapy. Pamidronate was used in the treatment of this condition, and was successful in the few reported cases in the literature.Case presentation: We report a 9 month old female who presented with failure to thrive, polyuria and polydipsia. She h...

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hrp0095p1-479 | Fat, Metabolism and Obesity | ESPE2022

4D-Blood+ Proteomic Profiling of Obesity and Metabolic Syndrome in Adolescents

Objective: Obesity accounts for 8.9% of children and adolescents in China, and metabolic syndrome (MetS) accounts for 28.8% of obese children, rising year by year. There is no early prediction and screening index in the clinic, so it is urgent to develop early prediction of MetS in children and adolescents and screen pathogenic molecular markers. Therefore, we propose to establish and screen biomarkers for the prognosis of obesity in children and adolescents t...

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hrp0092p3-4 | Adrenals and HPA Axis | ESPE2019

A Female Infant with Severe Salt-Wasting due to Aldosterone Synthase Deficiency, Initially Mimicking Adrenal Insufficiency

Krull Simone , Kamrath Clemens , Schulze Egbert , Giatropoulou Sofia , Wudy Stefan

Background: Correct diagnosis of the etiology of adrenal deficiencies is essential for appropriate treatment.Case report: At the 12th day of life, the girl had suffered an episode of severe salt wasting with marked hyponatremia (109 mmol/l) and hyperkalemia (6.9 mmol/l). Under the assumption of adrenal insufficiency therapy with hydrocortisone and fludrocortisone as well as salt had been started. Unfortunately...

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hrp0092p3-90 | Diabetes and Insulin | ESPE2019

A Management Challenge of Acute Viral Hepatitis A in a Child Presented with DKA as a First Presentation

Fawzy Dina , elgebaly asmaa

Background: Diabetic patients frequently develop a constellation of electrolyte disorders. These patients are often potassium-, magnesium- and phosphate-depleted, especially in the context of diabetic ketoacidosis.Patients with type-1 diabetes are predisposed to develop a spectrum of liver diseases, which includes fatty liver, steatohepatitis and cirrhosis. The association of hepatitis A infection with type-1 diabetes is extremely rare.<...

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hrp0092p3-323 | Late Breaking Abstracts | ESPE2019

De Novo PPM1D Mutation in a Patient with Growth Hormone Deficiency: A Case Report

Yuan Yuan , Shufang Liu

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

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hrp0089fc7.1 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Expression and Localisation of Insulin, Glucagon, Amylin, Pancreatic Polypeptide and PDX-1 in Pancreatic Tissue of Children with Congenital Hyperinsulinism

Guemes Maria , Rahman Sofia , Solanky Nita , Gilbert Clare , Morgan Kate , Shah Pratik , Hussain Khalid

Backgound: There is insufficient knowledge about the characterisation of insulin, glucagon, amylin, pancreatic polypeptide (PP) and Pancreas/Duodenum Homeobox Protein 1 (PDX-1) in pancreatic tissue of children with diffuse (DCHI) and focal (FCHI) congenital hyperinsulinism (CHI).Objective(s): To understand the expression profile and localisation of insulin, glucagon, amylin, PP and PDX-1 in pancreatic tissue of children with DCHI and FCHI.<p class="a...

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hrp0089p3-p018 | Adrenals and HPA Axis P3 | ESPE2018

Adequate Interpretation of Cortisol Levels in Children

Chueca Maria J , Villarreal Maria , Andres Carlos , Berrade Sara , Dura Teodoro , Nova Luiz-Miguel , Rodriguez Pablo

Adrenocortical tumours are a rare disease in the paediatric population, with a higher prevalence in children under 5 years. The aetiology is partially known; in some cases it is related to mutations in the tumour suppressor gene p53 (TP 53). The classical symptoms of the Cushing syndrome are not usually present in children, so we should suspect this disease in children and teenagers with obesity or with slow growth velocity.Methods: We report a case of a...

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hrp0089p3-p032 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

A Novel Homozygous Mutation in the CASR Gene in a Neonate with Severe Primary Hyperparathyroidism; A Case Report

Alqadi Ali , Raboei Enaam , Ghafouri Abdullah , Alguthami Albandari , Alghanmi Razan

Background: Neonatal severe primary hyperparathyroidism (NSHPT, MIM 23900) is a potentially lethal autosomal recessive disorder characterized by severe hypercalcemia, markedly elevated serum PTH levels and skeletal abnormalities that include multiple fractures, demineralization and erosions. It is secondary to biallelic loss of function mutation in the CASR gene that encodes the calcium sensing receptor.Case presentation: We identified a 10-day old baby ...

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hrp0089p3-p089 | Diabetes & Insulin P3 | ESPE2018

A Female Patient with Atypical Diabetes Features, Showing Heterozygous Mutations on G6PC2 (Glucose 6 Phosphatase, Catalytic Subunit 2): Does Explain All Clinical Manifestations or Is It Only Polymorphism?

Ozsu Elif

A female patient with atypical diabetes features, showing heterozygous mutations on G6PC2 (Glucose 6 phosphatase, catalytic subunit 2). Does explain all clinical manifestations or is it only polymorphism?Introduction: Determing diabetes subtypes and classification is not clear for every patient and diagnosis can be difficult. Here in, we have found a quite interesting mutation on G6PC2 gene in a girl, 10 years old, showing atypical diabetes characteristi...

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ESPE Abstracts

Neonatal Hyperparathyroidism with Homozygous Missense Mutation in the CASR Gene

Successful Treatment of Severe Hypercalcemia in an Infant with Williams Syndrome Using a Single Infusion of Pamidronate Followed by Low Calcium Diet

4D-Blood+ Proteomic Profiling of Obesity and Metabolic Syndrome in Adolescents

A Female Infant with Severe Salt-Wasting due to Aldosterone Synthase Deficiency, Initially Mimicking Adrenal Insufficiency

A Management Challenge of Acute Viral Hepatitis A in a Child Presented with DKA as a First Presentation

De Novo PPM1D Mutation in a Patient with Growth Hormone Deficiency: A Case Report

Expression and Localisation of Insulin, Glucagon, Amylin, Pancreatic Polypeptide and PDX-1 in Pancreatic Tissue of Children with Congenital Hyperinsulinism

Adequate Interpretation of Cortisol Levels in Children

A Novel Homozygous Mutation in the CASR Gene in a Neonate with Severe Primary Hyperparathyroidism; A Case Report

A Female Patient with Atypical Diabetes Features, Showing Heterozygous Mutations on G6PC2 (Glucose 6 Phosphatase, Catalytic Subunit 2): Does Explain All Clinical Manifestations or Is It Only Polymorphism?

BiosciAbstracts