ESPE Abstracts

Introduction: Patients with congenital adrenal hyperplasia (CAH) develop advanced bone age (BA) frequently. Treatment with aromatase inhibitors can slow down bone maturation and improve final height in cases of CAH. However, safety is not clear at this point.Case Presentation N 1 15.5 yrs. old boy was diagnosed with congenital adrenal hyperplasia, salt-wasting type at 4.9 years of age. His genetic analysis revealed that ...

Background: MODY can be mistaken for Diabetes type 1 or type 2.Objective: To evaluate genetic background in 22 patients presented with diabetes, negative islet cell antibodies, normal C-peptide and positive family history of diabetes. Genetic testing was done at Invitae laboratory and evaluated 28 genes for diagnosis of MODY.Results: Patients were divided into 2 groups: Group 1 wit...

Case report: 14 yrs. old Hispanic girl was referred for evaluation of diabetes (Hb A1c 9.8 %) and morbid obesity BMI 36 kg/m2. She developed acanthosis nigricans, elevated triglycerides (TG) 1162 mg/dl, low HDL 34 mg/dl, fatty liver with elevated AST 84 U/l, ALT 103 U/L. The abdominal sonogram revealed significant hepatomegaly with moderate steatosis. Her islet cell AB were negative, C-peptide 3.11 ng/ml was normal. She has a strong family history of diabetes:...

Background: Familial partial lipodystrophy type 2 (FPLD2) is a heterogeneous rare disease characterized by selective fat loss, mainly affecting the limbs. It is attributed to LMNA gene, which encodes lamins A and C, structural proteins components of the nuclear lamina. LMNA variants have been previously described with cardiac abnormalities with and without lipodystrophy in FPLD2.Case description: We describe a 1...

Case report: 6 yrs. old boy presented with high total T4, free T4, reverse T3, and normal total T3 and TSH. He has a history of tic disorder. Blood pressure, and heart rate were normal, no palpitations, no weight loss. Thyroid peroxidase and thyroglobulin antibodies were normal. Thyroid sonogram was normal. Family is of Hispanic origin. There was a family history of elevated T4 in the paternal uncle (half-brother of the father)Me...

Introduction: The prevalence of diabetes for all age-groups worldwide was estimated to be 28/1000 in 2000 and 44/1000 in 2030 (1). In the SEARCH study in a population of 3,458,974 US youth less than 20 yrs the prevalence of T1D was 1.93/1,000 and type 2 diabetes 0.24/1,000 (2).Methods: We reviewed data on already diagnosed patients with type 1 and type 2 diabetes from official statistical collection of Ministry of Health of Kazakhstan in 2016 (3).<p ...

We report three cases of neonatal diabetes from Kazakhstan, Almaty with the KCNJ11 gene mutation who were successfully switched from insulin to sulphonylurea treatment and 1 case of insulin (INS) gene mutation that presented as permanent insulin dependent neonatal diabetes.Case 1: An 1 month old girl presented with elevated glucose level, dehydation, ketoacidosis and was treated with Insulin. HbA1c at diagnosis was 10%. Heterozygous missense mut...

Background: It is important to make correct diagnosis of monogenic diabetes or MODY in children. Most of the patients are misdiagnosed with diabetes type 1 or type 2 and undergo unnecessary treatment with insulin or oral medications. We report first 1 case of MODY with heterozygous mutation in HNF1A gene when Insulin treatment was changed to sulphonylurea treatment and 1 case of compound heterozygote of glucokinase (GCK) gene and HNF1A gene mutations.Cas...

Background: Congenital generalised lipodystrophy (CGL) is a rare autosomal recessive disorder which presents with near total lack of adipose tissue and extreme insulin resistant diabetes. Metreleptin, an analogue of leptin was made through recombinant DNA technology. It was approved to treat CGL from February 2014.Our case represent successful use of Metreleptin in a child with diabetes developed secondary to CGL.Case presentation: A 14-years-old African...

Background: We report the first case of Wolfram syndrome with heterozygous polymorphisms of WFS1 and PTF1A genes.Case description: 16 years-old girl presented with diabetes mellitus at 12 years of age with HbA1c of 8.4 %. The IA-2, Islet cell, Insulin antibodies (Ab) were negative. GAD Ab were positive 26 U/ml (nl< 4). C-peptide level was normal 1.33 ng/ml (1.1-4.4 ng/ml) even after 4 years of diagnosis. She was initi...