ESPE Abstracts

McCune Albright Syndrome is a rare disease characterized by classic triad of polyostotic fibrous dysplasia, café-au-lait spots and endocrine dysfunction and out of them cushings syndrome is a fatal manifestation which might need bilateral adrenalectomy. We report a 6 months old baby who presented to Paediatric Endocrinology Unit due to elevated alkaline phosphatase levels while investigating for failure to thrive, hypotonia and global developmental delay. This child was...

Background: Pseudohypoparathyroidism (PHP) is a condition primarily caused by impaired hormonal signaling through the stimulatory G protein (G2 alpha) for the activation of adenyl cyclase, which is coupled to G protein receptors(1). This occurs due to the molecular defects in the receptors related to the alpha subunit. (1–3). The condition results in resistance to Parathyroid hormone (PTH) and other hormones. Less than 60 cases have been reported worldwi...

Thyroid hormone resistance (RTH) is a rare autosomal dominant genetic syndrome with a diminished response to circulating thyroid hormonesin target tissues. It has an incidence of 1:40,000-50,000, and equal sex distribution. Here we report a child with RTH, due to a mutation in THR β gene. 7 years and 5-month-old boy was referred due to thyroid hormone derangement. He was well until 3 years when he developed afebrile seizures and was on Na valproate. He was underg...

Background: Virilizing congenital adrenal hyperplasia (CAH) is a complex disorder which requires a multidisciplinary approach. Exact timing of genitoplasty in children with virilization varies on the available resources, patients’ perspectives, and cultural influences. This study is aim ed to assess surgical interventions based on the degree of virilization in girls with congenital adrenal hyperplasia from a single center.M...

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...

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...

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: 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...

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...