ESPE Abstracts

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&...

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...

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...

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...

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...

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Background: Experience with oral desamino-D-arginine-8-vasopressin lyophilisate (OLD) for central diabetes insipidus (CDI) in children with CNS malformations is limited.Objective and hypotheses: We aimed to assess the efficacy of oral use of OLD in children with CDI.Methods: Clinical, laboratory, and imaging characteristics of twenty-five children with CDI treated with OLD were eva...

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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...

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 ...