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 and Objective: Overweight/obese children may have unrecognized deficiency of several essential micronutrients owing to their faulty dietary habits. These may impair their physical and mental development. Deficiency of specific minerals and vitamins that co-factors in metabolic and signalling pathways, such as choline, zinc, magnesium, vitamins D and B12 may also predispose to insulin resistance, fatty liver and metabolic syndrome. This study was undertaken to assess...

Objective: To do longitudinal assessment of fat mass (FM)% of term, healthy Indian infants by stable isotope dilution method and skinfold thicknesses.Methods: Term healthy singleton newborns, with birth weight between 1.8 to 4.0 Kg, were followed from birth to 2 years. Anthropometry and skinfold thickness measurement at biceps, triceps, subscapular and supra-iliac sites was done serially at 10 days, 3 months, 1 and 2 years. Anthropometric data was conver...

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...

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...