ESPE Abstracts

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...

Introduction: Arginine vasopressin (AVP) and thirst are the main determinants of water homeostasis maintenance, and dysregulation leads to polyuria-polydipsia syndrome. This comprises of three key conditions: CDI due to insufficiently secreted AVP; NDI, due to renal AVP insensitivity and Primary Polydipsia (PP), caused by excessive fluid intake resulting in physiological suppression of AVP. Differentiating between these three conditions is important, as the tr...

Background: Hydrometrocolpos is a condition resulting in distension of the vagina and uterus due to accumulation of secretions (other than blood), caused by increased oestrogenic stimulation and vaginal outflow obstruction. The incidence in term neonates is 0.00014-0.001%. The condition presents at extremes of childhood, at birth when maternal circulating hormones are raised and at menarche when oestrogen production commences. Pseudohypoaldosteronism (PHA)...

Background: Low vitamin D levels have been linked to stunted growth and lower bone mineral density. Vitamin D insufficiency is a recognised condition in children in the UK. However, optimal levels of vitamin D are not adequately defined and guidance regarding supplementation is also limited.Aim: To identify vitamin D levels in a select cohort of Caucasian children aged 0–16 years, and describe how preterm birth, obesity, age and malabsorptive condit...

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...

Background: Precocious puberty is defined as breast development before 8 years in girls and gonad development before 9 years in boys. Central precocious puberty (CPP) results from early activation of the hypothalamic-gonadal axis. One third of idiopathic CPP is reported to be familial. Genetic mutations were initially described in kiss-peptin-1 (KISS1) and its receptor (KISS1R). More recently, Abreu et al identified heterogeneous mutations in the makorin RING finger 3 (MKRN3) ...

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: There is high prevalence of Vitamin D deficiency (VDD) in Hashimoto’s thyroiditis (HT) as reported in literature. However, it is uncertain whether VDD is a cause or effect of HT. The effect L-thyroxine replacement on vitamin D levels in children with HT has not been studied.Objective and hypotheses: To study vitamin D level of newly diagnosed children with HT and to observe the change in vitamin D level after L-thyroxine therapy.<p c...