ESPE Abstracts

Introduction: Duplications of SOX3 at Xq27.1 are known to be associated with a spectrum of midline defects, isolated/multiple pituitary hormone deficiencies and learning difficulties. We report 5 cases of SOX3 duplication with hypopituitarism and differing presentations. 1)Male neonate presented with poor feeding and prolonged jaundice. Investigations revealed central hypothyroidism and inadequate cortisol response to Synacthen. Appropriate hormone replacemen...

Introduction: Acromesomelic Dysplasia of Maroteaux (AMDM) is a cause of severe short stature (final height below120cm) with shortening of the middle and distal segments of the limbs, caused by homozygous or heterozygous mutations in the NPR2 gene which encodes natriuretic peptide receptor B on chromosome 9p13Case report: The proband was 4y6mo old, second born to 3rd degree consanguineous parents and presented ...

Background: Ganglioneuromas (GN) are rare benign tumours arising from the neural crest cells and it is equally rare to find them arising from the adrenal gland. We report a case of a 10-year old boy with an incidentally identified adrenal GN.Case report: A 10-year old boy had presented with the complaints of excessive weight gain noticed by the parents since the age of 2 years. There were no other complaints except for sleep apnea. A strong genetic histo...

Small for gestational age (SGA) is an important cause of short stature in developing countries like India.Results: 97 children between 2-4 yrs of age who were born SGA were studied over six months and those whose height was below the third percentile on WHO growth charts were classified as short.The inter-group statistical comparison of distribution of categorical variables were tested using Chi-Square test and int...

Objectives: Diabetic Ketoacidosis (DKA) is a dreaded complication and due to a paucity of studies on Paediatric DKA from India, we studied its clinical profile and outcome over the last 03 years.Methods: A retrospective chart review was used to obtain demographics, clinical presentation and various laboratory parameters on presentation of DKA in children less than 12 years of age.Results: See Tables 1–3.<table boarder="1" ...

Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) caused by mutations in the gene encoding TRPM6 (Transient receptor potential melastatin 6) on chromosome 9q22. This channel causes epithelial absorption of magnesium in the colon and renal distal convoluted tubule. Fewer than 100 cases have been reported in literature. A four year old girl had presented to us with tetany lasting for 30 minutes. Detailed history reve...

Importance: Current practice of doubling or trebling the basal glucocorticoid (GC) replacement dose during acute illnesses in children and young people (CYP) with GC deficiency is extrapolated from research in adults and not based on robust evidence. Endogenous cortisol levels during acute illnesses in CYP without GC deficiency can provide insight for optimal GC stress dosing for CYP with GC deficiency.Objective: To summ...

Introduction: Obesity and the metabolic syndrome (MetS) are linked to increased risk for endothelial dysfunction which is considered as the first step in the progression of cardiovascular disease. Fibroblast growth factor 21 (FGF21) is a protein with known effects on various metabolic pathways. In adults, the circulating blood levels of FGF21 have been associated with parameters of lipid/carbohydrate metabolism, and FGF21 is known to be increased in obesity. T...

Aim: To study the clinical profile of Neonatal Diabetes Mellitus (NDM) at our centreObjectives: 1. To study follow-up data on growth, glycemic control2. To review genetic analysisIntroduction: NDM is rare and occurs at a frequency of 1:1,00,000. There is scarce literature on follow up of these patients although genetic data is well established (1). Developing...

Introduction: Endocrine complications observed in patients with thalassemia major (TM) are mainly secondary to martial overload. Hypoparathyroidism (HPT) is a late and rare complication, typical of the 2nd decade of life in transfusion-dependent thalassemia patients (TDT). It is usually associated with other iron overload conditions (diabetes, hypogonadism, heart failure, etc.). The incidence of PTH varies from 1.2% to 20% depending on the center. Men are more...