ESPE Abstracts

Background: Childhood critical period for onset/continuity of obesity with development of significant clinical and metabolic changes, impairing health in adulthood. Metabolic syndrome on rise both in adult and pediatric obese Indian population. Development of impaired glucose tolerance and progress to insulin resistance and other metabolic alterations like hypertension, dyslipidemia, Non alcoholic fatty liver disease are important.Aim: Evaluate insulin r...

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...

Introduction: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in adult women. Syndrome is characterised by hiperandrogenism, oligo/amenorrhoea and polycystic ovary morphology in ultrasound. Clinical signs of the syndrome usually start already during adolescent years. Non-classic congenital adrenal hyperplasia (NCAH), caused by several mutations in CYP21A2 (6p21.3) gene, is the most common differential diagnosis for girls presented with symptoms of P...

Background: HSD3B2 is a rare cause of autosomal recessive primary adrenal insufficiency, potentially associated with under virilisation of XY males and virilisation of XX females. We present a case of a male infant presenting at term with ambiguous genitalia (DSD) with underlying diagnosis confirmed biochemically and genetically with a novel mutation of HSD3beta2.Objective: Case report.Patients and methods: Baby was born as FTND wi...

Background: PHP is a rare heterogeneous genetic disorder causing parathyroid hormone (PTH) resistance. This condition is caused by deficiency of the α subunit of the protein Gs, encoded by GNAS gene. Clinical classification is based on presence or absence of Albright hereditary osteodystrophy (AHO) and multiple or single hormone resistance, to PHP1a/1c and PHP1b respectively.Objective: To describe the clinical and practical management of a case of P...

Background: Continuous glucose monitoring (CGM) devices are novel tools to measure the impact of dietary intake on glucose rhythms/metabolism in children. There is a significant gap in the literature on glycemic response in healthy, term infants and young children up to 2 years of age.Objective: To investigate glucose excursions in response to infant feeding, using CGM in healthy 6–12-month-old infants.<p class...

Background: An early diagnosis and treatment based on neonatal screening offers a normal cognitive development in patients affected with congenital hypothyroidism (CH). However, several studies within cohorts of young adults have shown a still existing difference compared to control groups of up to eight IQ points. Moreover it has been claimed recently that a high L-T4 dose with subsequent episodes of overtreatment results in less favourable IQ outcom...

Background: Idiopathic ketotic hypoglycaemia (IKH) is an exclusion diagnosis and the most common cause of hypoglycaemia in childhood. Glycogen Storage disease (GSD) type IX comprises one quarter of all GSD’s. GSDIXa, encoded by PHKA2, is the most frequent subtype.Objective: To investigate whether IKH may be undiagnosed GSDIXa.Methods: Hospital file review and next generation sequence 29 gene GSD-panel.<p class="ab...

Background: 80–95% of congenital adrenal hyperplasia (CAH) cases are due to mutations in the CYP21A2 gene encoding 21 hydroxylase. The residual activity of the gene defines the clinical form. Routine mutational screening of CYP21A2 defects is shown to effectively support the complex diagnostic and treatment procedure of newborns with CAH.Objective: We aimed to characterise the phenotype of a girl with compound heterozygosity of ...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...