ESPE Abstracts

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: 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: 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...

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....

Introduction: Bartter syndrome (BS) is a rare genetic renal tubular disorder characterized by hypokalemia, salt-wasting and metabolic alkalosis. Polyuria, polydipsia, hypokalemia and salt loss are responsible for the growth retardation seen in BS. Persistent growth failure despite optimizing medical therapy may be due to growth hormone (GH) deficiency.Case diagnosis and treatment: A 9-year-old girl diagnosed with Bartter...

McCune Albright syndrome (MAS) is rare with a prevalence of 1 in 100,000 to 1 in 1,000,000, characterized by the triad of monostotic/polyostotic fibrous dysplasia (FD), café au lait skin pigmentation, and hyperfunctioning endocrinopathies caused by somatic activating mutations of the GNAS1 gene encoding the α subunit of guanine nucleotide-binding protein. Here we are reporting three cases of MAS who are actively being followed up in a leading Children’s Hosp...