ESPE Abstracts

Background: Diazoxide therapy is used as first line treatment in hyperinsulinaemic hypoglycaemia (HH). Apart from a single study reporting efficacy of low dose diazoxide in small for gestational age (SGA) infants, diazoxide has been reported to be used in doses of 5-20 mg/kg/day [1].Objective: To report the outcomes of infants with HH responsive to low dose diazoxide (≤5mg/kg/day).Method...

Purpose: This study aimed to profile children diagnosed with hypercalcemia of different etiologies at a single center.Method: We retrospectively reviewed 13 children diagnosed with hypercalcemia of different etiologies.Results: We describe 13 pediatric cases, aged 4 months to 12 years old (median age: 8 months), diagnosed from 2018 to 2021. Six males and seven females were included...

Introduction: The MODY diabetes (Maturity Onset Diabetes of the Young) belongs to monogenic alterations group, the mutation of the gene HNF-1α is the most common and present an autosomal dominant inheritance that causes dysfunction of the Beta pancreatic cell and alteration in the reabsorption of glucose to renal level, with age of variable presentations, it often leads to a misdiagnosis as type 1 diabetes mellitus.Description of the clinical case: ...

Background: The effect of GH has been classically described as anabolic which should lead to changes in body composition in children during treatment. Likewise, GHD typically occurs in children with short stature and increased BMI.Objective and hypotheses: The aim of this study was to assess changes in BMI in children before and after initiation of treatment with GH in patients with GH deficit in small for gestational age and year. Starting variables as ...

Introduction: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disease that caused by mutations in the vitamin D receptor (VDR) gene. Hypocalcemia, high alkaline phosphatase, secondary hyperparathyroidism, high 1.25-OH vitamin D (1.25-OHD) levels despite normal 25-OH vitamin D (25-OHD) levels are diagnostic. The clinical signs are rickets, short stature, recurrent lung infections and total/subtotal alopecia. Here, we present a case of...

Purpose: To evaluate the efficacy of supervised Artificial Neural Network (sANN) in bone age assessment and compare the diagnostic performance of sANN-based TW3 skeletal maturity assessment on hand radiographs with that of experienced child endocrinologists.Materials and methods: This study developed an optimized artificial intelligence TW3 bone age assessment system by using the sANN and rating for the 20 hand bones (13RUS+7carpal) from A to I. 8332 of ...

Objective: To know more about the etiology and mechanism of antibody-negative diabetes, screening MODY pathogenicity genes and deepening understanding of islet autoantibody-negative diabetes, so as to individualized precision treatment.Methods: A total of 31 subjects with diabetes who had negative islet autoantibodies and C-peptide ≥0.3 ng/ml were collected. Another group was the type 1 diabetes control group, After informed consent obtained patien...

Objective: To explore the value of continuous hemodiafiltration in rescuing children with severe diabetic ketoacidosis.Method: Two children with severe diabetic ketoacidosis were studied in regard to clinical manifestation, laboratory examination and treatment and of the relevant literature was reviewed.Result: Case 1 was a girl of 13 years 5 months old, who was diagnosed as ‘Type 1 diabetes mellitus, Diabetic ketoacidosis and...

Objective: To investigate the clinical features and genetic characteristics of HRAS-associated Costello Syndrome.Method: Characteristics of clinical data and gene mutation of two cases Costello Syndrome in XX hospital were retrospectively analyzed. The related literature was searched by using search terms ‘HRAS’ or ‘Costello Syndrome’.Result: Both patients were presented with mental retardation, growth retardati...

Background: Maturity-onset diabetes of the young, type 2 (MODY2), caused by mutations in the glucokinase (GCK) gene is rare in a Chinese population.Objective and hypotheses: We report three Chinese families with MODY2 and sequenced the GCK gene to find novo mutation.Method: Three unrelated Chinese families with MODY2 and pedigrees were investigated. In Family 1, the proband was a 7-year-old girl with impaired fasting glucose (IFG) ...