ESPE Abstracts

Background: Congenital combined pituitary hormone deficiency (CPHD) may be associated with pituitary/extra pituitary abnormalities. Well-known causes are mutations in pituitary transcription factor genes. Agenesis of internal carotid artery (ICA) is a rare vascular anomaly that has been associated with CPHD.Case presentation: The patient is a 2-year old male, born at term to non-consanguineous parents, birth wt 3.2 kg, length 47 cm, no gestational or per...

Background: Pre-pubertal gynecomastia is characterized by the presence of palpable breast tissue in boys in the absence of signs of sexual maturation. Gynecomastia is common in normal males in the neonatal period, at early puberty, and with increasing age and pre-pubertal gynecomastia is a rare condition and can be associated with excessive aromatase activity or oestrogen-producing adrenal or testicular tumours.Case Presentation: A 3-year-old presented w...

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...

Objective: Autoimmunity of the adrenal gland, also known as Addison’s disease, is characterised by cell mediated immune destruction of the adrenal cortex. We present a child with Addison’s disease who has severe hyponatraemia and normokalemia, which led to an inappropriately low index of suspicion initially at presentation.Case: A 12-year-old boy diagnosed with adrenal deficiency was admitted to hospital with 2 weeks of vomiting, fatigue and we...

Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism but not curable by surgery. Cinalcelcet may improve symptoms some patients but limited experienced especially in children. A 10 years old child evaluated by uveitis, sacroileitis, spondyloarthritis and diagnosed as HLA-B27 positive juvenile idiopathic arthritis (JIA). Also at the same time he evaluated by high calcium, low phosphate and inappropriately hig...

Background: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism (CHI) caused by a mutation in the GLUD1 gene. It is characterized by hyperinsulinemic hypoglycemia accompanying hyperammonemia.Objective and hypotheses: We report HI/HA syndrome with a 4-month-old male who hypoglycemic seizure.Method: A 4-month-old male infant presented with seizure caused by fasting-induced hypoglycemia. At the time...

Introduction: Pituitary gigantism is caused by a somatotroph pituitary tumor that occurs before epiphyseal closure and is associated with increased morbidity due to the systemic effects of chronic hormonal excess. It is an extremely rare disease, with an estimated incidence of 8 per million person-years. Therapeutic modalities for pituitary gigantism are the same as those for acromegaly and include surgery, medication and radiation. Medical treatment plays an ...

Background: The definition of Cushing disease (CD) is hypercortisolism caused by excess adrenocorticotropic hormone (ACTH) secretion by a pituitary corticotrope adenoma. It is extremely rare in the pediatric population and requires rapid diagnosis and early management.Case presentation: A 14-year old boy was hospitalized because of sudden onset of chest pain, loss of consciousness, elevated cardio-specific enzymes, and s...

Introduction: Type 1 Diabetes(T1) and autoimmune thyroid disease(AITD) can occur concomitantly. Multiple sclerosis(MS), a chronic condition resulting from dysfunction of the immune system, may co-occur with T1D.Aim: We present a 17-year-old boy presented with AITD at 10y old and within seven years developed T1D and MS.Subjects and methods: The patient presented at the age of 10y ol...

Familial hypobetalipoproteinemia (FHBL) is an autosomal codominantly inherited disorder of lipid metabolism characterized by <5th percentile plasma levels of LDL cholesterol or total apolipoprotein B (apoB). LDL cholesterol level is usually between 20-50 mg/dL. FHBL results from mutations in APOB, PCSK9 gene. Patients with homozygous APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may have symptoms of fat malabsorption, steatorrhea, diarrhea, failure to thrive, de...