ESPE Abstracts

Background: Evaluation of the external genitalia is very important in the routine neonatal examination, since abnormalities of the genitalia give clues to underlying endocrine disorders or serious structural malformations. This is the first report regarding the stretched penile length (SPL) of newborns from Sri Lanka.Objective and hypotheses: The objectives of the study were to document the SPL of healthy term neonates born following an uncomplicated del...

Prader Willi Syndrome (PWS) is a rare neuro-genetic disorder inherited as a result of lack of expression in 15q11-13 gene and 70% are paternally inherited. Characteristic features are dysmorphism, behavioural problems, infantile hypotonia, short stature, hypothalamic dysfunction, hyperphagia and morbid obesity. The long-term morbidity and mortality depend on hypothalamic dysfunction and obesity. While multidisciplinary care is essential, growth hormone (GH) is a recognized...

Background: Nutritional rickets is a disorder of defective chondrocyte differentiation and mineralization of the growth plate and osteoid due to vitamin D deficiency with or without low calcium intake in growing children. Maternal Vitamin D deficiency and exclusive breastfeeding without supplementation are the most frequent causes of rickets in the infancy. Vitamin D deficiency is still a problem in Sri Lanka in spite of sun shine throughout the year. We present a case series ...

Introduction: Hypocalcaemia is a biochemical abnormality noted in neonates and considered a possible side effect of maternal MgSO4 administration. Suggested mechanism is MgSO4 treatment increase maternal hypermagnesemia, inhibiting maternal parathyroid hormone secretion leading to maternal and foetal/neonatal hypocalcaemia.Objectives: This study is aimed to identify common risk factors, presentation, biochemical abnormal...

Objective: To describe the glycaemic control and change in body mass index (BMI) in children and adolescents with type 1 diabetes (T1DM) after converting to multiple dose insulin regime (MDI) from fixed dose insulin regime (FD).Methods: A retrospective observational study on children with T1DM who were converted to MDI from FD at the Lady Ridgeway Hospital from January 2013 to June 2018. Mean haemoglobin A1c(H...

Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disorder due to inactivating mutations of calcium-sensing receptor. These receptors are vital in calcium homeostasis and are expressed in a number of tissues such as parathyroid glands, renal tubules and bone. Homozygous mutations lead to severe hypercalcemia and life-threatening bone demineralization if untreated. A neonate born to 2nd degree consanguineous parents presented with poor feeding...

Background: Turner’s syndrome (TS) is the most common genetic disorder in females affecting approximately 1 in 2500 live female births as a result of partial or complete X chromosomal monosomy. TS mostly affect skeletal, cardiovascular, endocrine and reproductive systems. Girls with TS present with short stature and dysmorphic features such as webbed neck and delayed puberty. Age at diagnosis of children with TS is extremely important to start growth hormone at younger ag...

Introduction: Hypothyroidism is the commonest endocrine disorder which associates with Trisomy 21. It affects the physical and intellectual development of children. It can be either congenital or acquired.Case report: 9 years old boy diagnosed patient with Trisomy 21; presented with the complaint of bowel not opened for 3 weeks and grossly distended abdomen. On the day of admission, he had low-grade fever and settled wit...

Introduction: In Pseudohypoparathyroidism (PHP), parathyroid glands are normal or hyperplastic and they can synthesize and secrete parathyroid (PTH) hormone. Serum immunoreactive PTH are elevated even when the patient is normocalcemic. Neither endogenous nor administered PTH raises the serum Ca or lowers the levels of P. Depending on the phenotypic and biological findings, PHP is classified into various types.Case Report:</strong...

Background: Humanin is a novel signaling peptide which has been showed, by in vitro and in vivo studies, to improve insulin sensitivity. As plasma humanin levels decrease during adulthood, particularly during aging, it has been proposed that the increment of insulin resistance in aging might be associated with lesser humanin plasma values.Objective and hypotheses: The physiological insulin resistance observed during puberty in normal ch...