Endocrine Abstracts

Introduction: Osteogenesis imperfecta (OI) is classified on the basis of molecular genetics, mode of inheritance, clinical and radiological findings. The genes implicated are either COL1A1 or COL1A2. We report a case of a novel mutation of OI in the COL1A2 gene.Case: A 24-year-old teacher with type 1 Diabetes Mellitus, presented to our Endocrine Clinic with recurrent fractures since childhood. At 7 months old, she fractured her left leg. At...

Introduction: Plasma cell neoplasms include a variety of clinicopathologic entities including; multiple myeloma, solitary plasmacytoma of bone and extramedullary plasmacytoma. Plasma cell neoplasms of the pituitary area are very rare, with only 19 cases in the literature. We report a rare case of multiple myeloma presenting with parasellar mass.Case: A 44-year-old lady was admitted with sudden onset of diplopia and blurring of vision. She also mentioned ...

Introduction: It is rare for patients with morbid obesity to become pregnant without assisted reproductive support. Spontaneous conception of triplets and their successful delivery by caesarean section is hitherto unreported. We report the case of world’s heaviest mother to undergo caesarean section with good outcome for mother and the babies.Case history: A 24 year old lady was seen in the antenatal clinic at 11 weeks of pregnancy. She weighed 140 ...

Introduction: Dilated cardiomyopathy is an uncommon, but well recognized, manifestation of thyrotoxicosis. However, hyperthyroidism presenting with dilated cardiomyopathy is very rare. We describe an unusual case of dilated cardiomyopathy as the initial manifestation of Graves’ hyperthyroidism.Case: A 61-year-old man of Malaysian origin, with no significant past medical history, was admitted with two month history of worsening shortness of breath, o...

Apolipoprotein (Apo)-B is a strong predictor of coronary risk in the general population. Whether it contributes to coronary disease in patients with reduced kidney function is unclear. We examined the prevalence and relationship of Apo-B with physician-diagnosed myocardial infarction among 7,404 adults age >20 years with reduced glomerular filtration rate (GFR) in the U.S. population. GFR was estimated Modification of Diet in Renal Disease Study (MDRD) equation and calibra...

A32 year old lady was admitted with symptoms of palpitations, tremors, insomnia, heat intolerance, weight loss and excessive perspiration for 4 weeks. Worsening of these symptoms with vomiting prompted the admission. She had similar episode 7 yrs ago following the birth of her child when a provisional diagnosis of postpartum thyrotoxicosis was made but lost follow up with in 2 weeks. She works as a carer looking after mentally handicapped children. Her mother suffers from hypo...

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: Genetic causes of hypocalcaemia can be overlooked in patients presenting without apparent syndromic features. One such example is DiGeorge syndrome, which is often diagnosed in childhood but rarely in adulthood.Case presentation: A 21-year-old lady was referred to our endocrinology clinic regarding chronic hypocalcaemia (adjusted calcium 1.98 mmol/l). This was first diagnosed at the age of eight with no clear cause identified. Her past medica...

Background: Ectopic Cushing’s syndrome (ECS) is a rare and severe condition at times presenting acutely with intense hypercortisolism. The intensity of hypercortisolism can be disproportionate to underlying tumoral condition, and associated life-threatening complications are common arising suddenly. Hypercortisolism must be controlled rapidly pending definitive treatment of tumoral source to avoid life-threatening consequences.Case Summary: 31-year-...

Background: Preterm infants represent around 10% of births worldwide and have increased risk of adverse metabolic outcomes in later life. The approach to feeding preterms must balance the need to promote brain growth by providing adequate nutrients whilst avoiding potentially harmful excess nutrition.Objective: To investigate the association between patterns of weight gain in infancy and childhood with later insulin sensitivity in adolescents who were bo...