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...

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: 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...

The Wilms' Tumour (WT1) gene is thought to play an important role in nephrogenesis, genitourinary development, and sex determination. We report three cases followed up in a tertiary care center in Sri Lanka. All three patients were referred for evaluation of ambiguous genitalia (stretched penile length <= 2cm, penoscrotal hypospadiasis in all three patients. Patient one had bilateral palpable testes in inguinal canal. Patients two and three did not have any palpable te...

Introduction: Mutations of the SCN8A gene, which encodes a neuronal voltage-gated sodium channel are associated with an epileptic encephalopathy of varying severity and neurodevelopmental delay. A few cases are reported, where epileptic encephalopathy due to SCN8A mutations have been associated with multiple fractures and bone loss suggestive of juvenile osteoporosis.Case Presentation: Two girls, aged 19-months were refe...

Introduction: 45,X/46,XY mosaicism is rare difference/disorder of sex development(DSD) with an incidence of 1.7 per 10,000 newborns. Children with this type of DSD have varying phenotype of internal and external genitalia/ gonads, Turner-like features and increased risk of gonadal malignancy posing great clinical challenge.Case presentation: A 13-year-old girl was referred for primary amenorrhea. She had been investigate...