ESPE Abstracts

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...

Background: Hyperuricemia has been found to be associated with non-alcoholic fatty liver disease (NAFLD).Aim: The aim of this study was to evaluate whether allopurinol affects the course of experimental NAFLD in rats.Study Design: Mature, albino Sprague Dawley rats were fed water containing 30% fructose without ethanol for up to 8 weeks. After demonstration of steatosis in the 8th week, either allopurinol or saline was administered...

Background: CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) syndrome is a recently described autoinflammatory disease that manifests in early infancy with recurrent fever, violaceous swelling of the eyelids, purpuric skin lesions, hypochromic anemia and elevated acute phase reactants. It is autosomal recessively inherited and associated with partial lipodystrophy, growth retardation and hepatomegaly. PSMB8 (proteasome subu...

Background: 17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare cause of 46,XY sex reversal due to a defect in conversion of androstenedione to testosterone. It is autosomal recessively inherited and caused by mutations in 17HSD3.Objective and hypotheses: To define clinical and laboratory characteristics of 17β-HSD3 deficiency during neonatal period.Method: An 8-day-old newborn with female externa...

Aim: Osteopetrosis is caused by autosomal mutations occurring in nine genes (TNFRSF11A, TNFSF11, TCIRG1, CLCN7, OSTM1, SNX10, PLEKHM1, CA2, and LRP5). Detecting the aetiology and providing genetic counselling via individual mutation analysis of all these genes is expensive and time consuming. Whole exome sequencing is currently increasingly used given that the cost and the time needed are similar to that of single gene sequencing analysis. Here, two newborns,...

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...

Aims: To describe a case of premature adrenarche with pseudohypoparathyroidism, an as yet unreported combination.Case: An otherwise well 8 year old girl presented to a Paediatric Endocrine Clinic with early pubic hair development suggestive of Premature Adrenarche. Blood tests revealed hypocalcaemia, elevated phosphate and highly elevated parathyroid hormone (PTH) level, giving a biochemical diagnosis of pseudohypoparathyroidism. She had normal stature (...

Background: The combination of various severe manifestations of hypothyroidism with pseudo muscular hypertrophy is called Kocher Debre Semelaigne syndrome (KDS). KDS is very rare in countries where newborn screening for hypothyroidism is in place. Most of the reports of KDS have come from India and developing countries with only a single report from Europe over last five decades. We present a 7-year-old boy from UK who had short stature and apparent partial lipodystrophy.<...

Introduction: Obesity is a recognised risk factor for raised intracranial pressure in the adult population but is still under-recognised in children and young people. The pathophysiology of raised intracranial pressure in relation to obesity remains unclear. The aim of our study is to investigate the association between idiopathic intracranial hypertension (IIH) and obesity in children and young people.Method: Patients d...

Introduction: The onset of puberty is preceded by the activity of the hypothalamic-pituitary-gonadal (HPG) axis during infancy known as mini-puberty which is sexually dimorphic and more pronounced in male infants.Aims and objectives: the main objective was "To study LH(Luteinising hormone), FSH(follicle stimulating hormone) and Testosterone and testicular volume, stretched penile length (SP...