Endocrine Abstracts

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is an autoimmune inherited disorder, a potentially underdiagnosed clinical entity, caused by mutations in the autoimmune regulatory gene that can present with varying symptomatology as it affects various organs, posing both a diagnostic and management hurdle. We report a case to highlight this complexity.Case report: Case details involves a female who first presented in childhood with rash, eye...

Background: Bloom’s syndrome is a rare autosomal recessive disorder due to chromosomal instability. It is associated with endocrinopathies such as growth deficiency, insulin resistance, type 2 diabetes, dyslipidemia and hypothyroidism. We present a case to highlight the challenges in management of diabetic emergencies in patients with complex syndromes.Case report: A 38-year-old male of Asian descent known to have Bloom’s syndrome presented to ...

Background: Ovarian Hyperstimulation Syndrome(OHSS) complicates up to a third of assisted reproduction cycles. Severe hyponatremia is a rare complication of OHSS. We report a case of severe hyponatremia to highlight the challenges in management.Case Report: 31 year-old female presented with breathlessness, abdominal pain, increased abdominal girth and hyponatremia (sodium 122 mmol/l) eight days following embryo transfer after ovulation induction with gon...