hrp0089p1-p188 | Growth & Syndromes P1 | ESPE2018

Mutations in SHOX, GHR and IGFALS Genes Among Indian Children with ‘Idiopathic Short Stature’

Kumar Anil , Jain Vandana

Background: Linear growth is a multifactorial trait.Short children in whom no definite etiology is found after thorough evaluation are considered to have idiopathic short stature (ISS). A proportion of these children have a monogenic basis of short stature.Aim: To study the prevalence of mutations or pathogenic variants in SHOX, GHR and IGFALS genes among Indian children with ISS.Methods: Children aged 4&...

hrp0089p1-p094 | Fat, Metabolism and Obesity P1 | ESPE2018

Association of Single Nucleotide Polymorphisms in TNFA, PNPLA3, ADIPOQ and APOC3 Genes with Obesity and Non-Alcoholic Fatty Liver Disease in North Indian Adolescents

Jain Vandana , Kumar Anil , Jana Manisha , Kalaivani Mani

Background: Polymorphisms in several genes may be associated with a higher risk of obesity and non-alcoholic fatty liver disease (NAFLD).Objective: To examine the association of single nucleotide polymorphisms (SNPs) −238G>A, −1031 T>C and −863 C>A of Tumor Necrosis Factor-α (TNFA) gene; rs738409 C>G of patatin-like phospholipase domain containing 3 (PNPLA3) gene; +276 G>T and +45 T>G of Ad...

hrp0089lb-p7 | Late Breaking P1 | ESPE2018

Mutational Analysis of SRD5A2 and AR Genes in Indian Children with 46 XY Disorders of Sex Development

Kumar Anil , Faruq Mohd , Werner Ralf , Sharma Rajni , Jain Vandana

Aim: To study the mutation spectrum in SRD5A2 and AR genes among Indian children with 46 XY disorders of sex development (DSD).Methods: This work is part of an ongoing study at Department of Pediatrics, AIIMS, Delhi, approved by the ethics committee of the Institute. Children with 46 XY DSD in whom endocrine investigations were suggestive of either 5α reductase deficiency or androgen insensitivity syndrome were enrolled for mutatio...

hrp0092p3-36 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Case of Robinow Syndrome

Anil Korkmaz Huseyin , Sen Askin

Introduction: Robinow syndrome is a rare autosomal recessive and autosomal dominant disorder affecting the whole skeletal system. Autosomal recessive robinow syndrome is characterized by shortness of the long bones and vertebra anomalies. Less than 200 cases of autosomal recessive robinow syndrome have been reported in the literature.Case: The newborn was referred to pediatric endocrine clinic for disorder of penis devel...

hrp0089p3-p100 | Diabetes & Insulin P3 | ESPE2018

Is There a Relationship between Immune-Mediated Type 1 Diabetes Mellitus and Congenital Rubella Infection?

Korkmaz Huseyin Anil , Ermis Cağatay

Congenital rubella infection is a transplacental infection that can cause intrauterine growth retardation, cataract, patent ductus arteriosus, hearing loss, microcephaly, thrombocytopenia and severe fetal injury. It has been shown that type 1 diabetes mellitus develops in 12–20% of patients with congenital rubella infection and disorder in oral glucose tolerance test is observed in 40%. A 13-year-old male patient presented with complaints of new-onset polydipsia, urinatio...

hrp0092p1-130 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

In vivo and In vitro study of 17β Estradiol Against Amyloid Beta Neurotoxicity in Synaptosomes of Aging Female Rats: A Therapeutic Potential Drug for Parkinson's Disease

Kumar Pardeep , Baquer Najma

Objectives: The aim of the present study was to determine the effects of neuropeptide, neurokinin B (NKB) and amyloid beta fragment Aβ (25-35) on 17β estradiol (E2) treated aging female rat brain of 3 months (young), 12 months (adult) and 24 months (old) age groups.Methods: The aged rats (12 and 24 months old) were given subcutaneous injection of E2 (0.1 µg/g body weight) for 30 days. Synaptosomes we...

hrp0086rfc13.5 | Management of Obesity | ESPE2016

Protective Potential of Metformin on Membrane Linked Functions in Diabetic Aging Female Rats

Kumar Pardeep , Baquer N

Objective: The objective of this study was to investigate protective potential of metformin on membrane linked functions and glucose transporter in diabetic aging female rats.Background: The emerging view is that diabetic brain features many symptoms that are best described as accelerated brain aging.Methods: Young (3 months) adult (12 months) and aged (24 months) rats will be diabetic by using alloxan monohydrate. After metformin ...

hrp0082p2-d1-538 | Puberty and Neuroendocrinology | ESPE2014

Acute Exposure of Endocrine Disruptor does not Induce Oxidative Stress in the Rat’s Brain

Kumar Neeraj , Sharma Varsha

Background: The ever increasing uses of electronic gadgets are becoming a widespread source of Bisphenol-A accumulation. As studies have been reported that low level BPA accumulation may produce neurological effects but still limited studies have re-examined for its adverse effects in terms of acute exposure from electronic devices.Objective and hypotheses: To investigate the effects of BPA on oxidative damage in terms of activity level of antioxidant en...