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...