Endocrine Abstracts

Background: We planned this prospective cohort study in term newborn babies, with the objective to determine the incidence of vitamin D deficiency in infancy and to determine the level of vitamin D which triggers the physiological PTH axis of the body so as to differentiate truly deficient from sufficient vitamin D status.Methods: 96 participants at birth were enrolled and followed up till 9 months of age. Serum 25OHD was estimated in cord blood at birth...

Objective: We aimed to identify the genetic defect in patients labelled as sporadic and idiopathic hypoparathyroidism (HP) by using whole-exome sequencing (WES).Methods: Patients with sporadic nonsurgical HP, aged <30 years were recruited. Those with a known genetic or autoimmune aetiology were excluded from the study. Thirty such patients were screened for antibodies against interferon-α, a highly sensitive and specific marker of autoimmune pol...

Background: The extent of biochemical abnormalities in household members of children presenting with symptomatic vitamin D deficiency remains unknown. Characterising risk groups who warrant 25 hydroxyvitamin D (25OHD) testing will help reduce the rising frequency of unnecessary testing in the UK.Aims: Investigate the prevalence of vitamin D deficiency and biochemical osteomalacia in the mothers and siblings of children presenting with symptomatic vitamin...

Introduction: Nutritional rickets due to vitamin D and dietary calcium deficiency is common in the UK. However, nutritional rickets secondary to hypophosphataemia is rare. We present a rare case of hypophosphataemic rickets secondary to use of hydrolysed infant formula.Case description: A 4 month old infant presented to ED with breathing difficulty. He was diagnosed to have bronchiolitis and admitted for further management.He was b...

Aims: To calculate the sensitivity, specificity and positive predictive value of Parathyroid scintigraphy using Technetium-Sestamibi scan in the localization of parathyroid disease.Methods and material: This is a retrospective medical review of 161 patients who underwent the Parathyroid scintigraphy at our hospital in last six years. True positives were defined as patients with confirmed primary hyperparathyroidism (PHPT) on pathological examination. Tru...

Background: Insulinoma is an uncommon disease. The clinical profile of insulinomas among Indian patients is not well known.Aim of the study: To study the clinical characterstics, biochemical and radiological parameters,and treatment aspects of our adult patients with insulinomas.Methodology: We did a retrospective analysis of 18 patients with insulinoma treated from 1992 to 2004 in our institution. The data was analysed using a 11....

Aim: To analyse the clinical profile in patients with differentiated thyroid carcinoma.Materials & Methods: A retrospective analysis of case records of 232 patients who had under gone treatment for differentiated thyroid carcinoma from year 2000–2004 in Christian Medical College, Vellore was done and the intended data obtained using spss data.Results: A preoperative FNAC suggested thyroid neoplasm in 60%. Total thyroidecto...

Aims: To examine, in children with Osteogenesis Imperfecta (OI): the prevalence of overweight and obesity, longitudinal trends in body mass index (BMI) z-scores and total body fat percentage (TBF) assessed on dual-energy X-ray absorptiometry (DXA) scans, correlation between BMI and TBF and fractures and BMI z-score.Methods: Retrospective cross-sectional and longitudinal analysis of children with OI, with minimum 5 years data on DXA scans, at a single nat...

Introduction: Total daily insulin required to achieve glycaemic control in type 1 diabetes (T1D) depends on numerous factors. Correlation of insulin requirement to BMI and waist circumference has been variably reported in the literature, whilst that of WHtR has not been studied.Aims: To study the correlation between daily insulin requirement (TDD) and WHtR in a multi-ethnic population.Methods: A cross-sectional study of children (5...

Introduction: Bardet-Biedl syndrome (BBS) is a monogenic disease characterized by retinitis pigmentosa (>90%), obesity (72–86%), insulin resistant diabetes, and hypogonadism. Weight management is challenging due to frequent association of learning and visual impairment. At our BBS MDT clinic, dietetic review is provided at each visit. Dietetic input focuses primarily on reduced fat and sugar content in diet and exercise is encouraged. Individualised written dietary pl...