hrp0097fc10.4 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

A Novel Mutation in RAI1 Gene in a Patient with Clinical Diagnosis of Rapid-Onset Obesity with Hypothalamic Dysregulation, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome with Overlapping Symptoms of Smith Magenis Syndrome (SMS).

Berra Madalin , Dreimane Daina , Bhangoo Amrit

Background: Pathologic mutations in RAI1 gene (typically microdeletions) cause SMS. Patients have characteristic physical appearance, developmental delay, sleep disturbances, and obesity; without hypothalamic dysfunction. Thaker et al published a case of a child with clinical diagnosis of ROHHAD with a mutation in the RAI1 gene (c.3265C>T: p.R1089X) found by whole exome sequencing. He had a physical appearance consistent with SMS and sleep cycle di...

hrp0097p1-472 | Fat, Metabolism and Obesity | ESPE2023

First Case of Familial Partial Lipodystrophy Type 2 (FPLD2) from Kazakhstan Presenting with Life Threatening Arrhythmias and Dilated Cardiomyopathy

Nurbekova Akmaral , Ten Svetlana , Bhangoo Amrit

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...

hrp0097p2-69 | Fat, Metabolism and Obesity | ESPE2023

A Young Woman with Morbid Early Onset Obesity, Progressive Hypothalamic-Pituitary Dysfunction, Bilateral Optic Nerve Atrophy, and a Combination of Variations in Four Genes Involved in Hypothalamic Satiety Signaling Pathways

Bullock Julianne , Bhangoo Amrit , Dreimane Daina

Background: Leptin receptor (LepR) deficiency is an autosomal-recessive rare condition causing early-onset severe obesity, hyperphagia, hypogonadotropic hypogonadism (HH), hypothyroidism, and/or growth hormone deficiency (GHD). Cohen syndrome is a variable autosomal recessive genetic disease caused by mutations in the VPS13B gene causing central obesity, characteristic facial features, hypotonia, non-progressive intellectual deficit, neutropenia,...

hrp0095t5 | Section | ESPE2022

Genetic Variations in Early Onset Obesity: Experience from southern California

Bhangoo Amrit , Kashmiri Himala , Kadakia Sejal , Dremainep Daina

Introduction: Early onset of obesity has very severe consequences for the rest of the life which leads to morbid obesity as adults, dyslipidemia, hypertension, diabetes mellitus, sleep apnea and fatty liver disease. Recently, various genetic panels have been available and are quickly becoming a standard of care to screen children with genetic panel for obesity. However, most of these variations in ethnically diverse populations have not been extensively studie...

hrp0089p2-p062 | Diabetes & Insulin P2 | ESPE2018

Prevalence of Diabetes Type 1 and Type 2 in Children and Adults in Kazakhstan in 2016

Nurbekova Akmaral , Balmuchanova Aigul , Ten Svetlana , Bhangoo Amrit

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 ...

hrp0089p3-p075 | Diabetes &amp; Insulin P3 | ESPE2018

First Four Cases of Neonatal Diabetes from Kazakhstan, Almaty with Proven Mutations in KCNJ11 and INS Genes

Nurbekova Akmaral , Hattersley Andrew , Ten Svetlana , Bhangoo Amrit

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...

hrp0089p3-p076 | Diabetes &amp; Insulin P3 | ESPE2018

First 2 Cases of Monogenic Diabetes (MODY) from Kazakhstan, Almaty with Proven Heterozygous Mutation in Hepatocyte Nuclear Factor 1-Alpha (HNF1A) Gene

Nurbekova Akmaral , Hattersley Andrew , Ten Svetlana , Bhangoo Amrit

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...

hrp0084p1-35 | Diabetes | ESPE2015

Effect of 6 Months Therapy with Metreleptin in an African American Boy with Congenital Generalised Lipodystrophy

Ten Svetlana , Bhangoo Amrit , Khurana Divya , Flyer Mark , Garg Abhimanyu

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...

hrp0095p2-59 | Diabetes and Insulin | ESPE2022

First case of Diabetes Mellitus Caused by compound heterozygous changes in the WFS1 and PTF1A Genes from Kazakhstan

Aralbayeva Dariga , Bolatbek Kassiyet , Berikkan Aigerim , Ten Svetlana , Bhangoo Amrit , Nurbekova Akmaral

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...

hrp0097p1-457 | Fat, Metabolism and Obesity | ESPE2023

PCSK1 Heterozygous Gene Polymorphisms are Associated with Early Onset Morbid Childhood Class III Obesity Across Diverse Ethnic Groups.

Maharaj Vedatta , Bhangoo Amrit , Volcotrub Egor , Khurana Divya , Javier Aisenberg Javier , Ten Svetlana

Aim of the study: Correlate genetic data of patients heterozygous of PCSK1 gene variations with the clinical phenotype.Introduction: Heterozygous variants of the PCSK1 gene have been described in cases of early onset of morbid obesity in childhood. This gene encodes prohormone convertase 1/3 enzyme, a serine endoprotease expressed in neuroendocrine cells that converts inactive prohormones into functional hormones importa...