ESPE Abstracts

Introduction: Chronic pancreatitis is defined as recurrent or persistent pancreatitis, which will result in irreversible morphological change in pancreatic structure leading to pancreatic exocrine and endocrine insufficiency. ICCP is a rare condition and only few cases in adults have been reported in Sri Lanka. Prevalence of ICCP is highly variable in Asian and western countries. We present a rare case of FCPD in a 9 a years old boy.<str...

Introduction: McCune Albright syndrome (MAS) is a rare genetic disorder characterized by a triad of hyperpigmentation, endocrinopathies, and fibrous dysplasia (FD), caused by post-zygotic somatic mutations. Hyperthyroidism is the second most common endocrinopathy in MAS and poses significant management challenges in infants.Case History: 7-month-old infant girl born to non-consanguineous parents, who presented with per v...

Introduction: The prevalence of childhood obesity is increasing worldwide, and the management remains a challenge. The mainstay of management is lifestyle modification but if this is not successful, pharmacological agents are considered although the options in children and young people are quite limited. Metformin has been used as an adjunct therapy alongside lifestyle modification in children and young people with obesity. Some studies have shown it to be eff...

Introduction: Hypopituitarism leads to one or more pituitary hormones deficiency. Hypopituitarism can be congenital or acquired. The incidence of congenital hypopituitarism is between 1 in 4000 and 1in 10 000 live births. Children with congenital hypopituitarism may present with hypoglycemia, hyponatremia, shock, micro phallus in males, and later present with growth failure. It can be due to congenital or acquired causes. Adamantinomatous type craniopharingiom...

Introduction: Hydrometrocolpos (HMC) develops in a female child as a result of a vaginal outflow tract obstruction and accumulation of secretions. HMC can have associated with other malformations or associated syndromes. Imperforated hymen, vaginal atresia, persistent urogenital sinus, and cloacal malformation, are the common causes for HMC. Congenital adrenal hyperplasia causing androgen exposure during the fetal life leads to varying degree of ambiguous geni...

Introduction: Acute pancreatitis (AP) is rarely seen in children and is typically not associated with common aetiologies seen in adults. AP secondary to hypercalcaemia due to primary hyperparathyroidism (PHPT) is very rare. The annual incidence of PHPT in adults is 30/100,000 with female predominance and 2–5/100,000 in children regardless of sex. We present a rare presentation of PHPT presenting with AP in a 12-year-old boy.<strong...

Introduction: Excessive androgen secretion from gonads, adrenal gland and tumors arising from germ cells lead to gonadotropin independent precocious puberty in male and virilization in females. Rapid progression of symptoms with peripheral precocity need urgent evaluation to identify the underlying etiology. We report three cases of malignancy with excess androgen secretion within a year in a tertiary care children hospital in Sri Lanka....

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...

Introduction: Sex determining region Y (SRY gene) located in chromosome Yp11.3, initiate gonadal differentiation into testes, which subsequently leads to development of Wolffian duct, male external genitalia, and regression of Mullerian duct. Not only SRY, SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10 contribute for gonadal differentiation. Imbalance of expression of above genes in the absence of SRY leads to 46, XX testicular DSD. We describe a case of 46...

Introduction: Familial chylomicronemia syndrome (FCS) is an extremely rare monogenic disease with a prevalence of 1-2:1,000,000. Defects in lipoprotein lipase (LPL) are the main cause. Recurrent acute pancreatitis is a life-threatening complication of FCS. Insulin therapy is known to be a mode of treatment for hypertriglyceridemia.Case series: We present four children with genetically confirmed LPL deficiency followed up...