Endocrine Abstracts

Craniopharyngioma is a rare embryonic malformation of the Sellar/parasellar region. This harbors BRAF-V600E mutations. There are 2 Subtypes-Adamantinomatous and Papillary. Point prevalence of CP is around 2/100,000 with no variance by gender or race. CP has bimodal age distribution with peak incidence in the ages of 5-14 and 65-74 years. CP presents with following clinical features: Symptoms due to increased intracranial pressure-Nausea, headaches, visual impairments, hormone ...

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: Alemtuzumab is an anti-CD52 monoclonal antibody used in the treatment of relapsing and remitting Multiple Sclerosis (MS). It is a highly effective medication however common side effects of the treatment can include Autoimmune thyroid disease (Graves’ disease, Hashimoto’s thyroiditis), idiopathic thrombocytopenic purpura, anti-glomerular basement membrane disease, neutropenia, haemolytic anaemia, vitiligo being the most common presentation. This case highl...

Introduction: Infertility is a common medical condition affecting 50 million couples worldwide and azoospermia account for around 10 % of cases of male infertility. Non-obstructive azoospermia is one of the most severe forms of male infertility and aetiology could be due to primary testicular failure, secondary testicular failure and those with incomplete or ambiguous picture of testicular failure.Case report: A 34-year-old patient referred to endocrine ...

Background: Dysfunctional endoplasmic reticula (ER) and mitochondria contribute to the pathogenesis of obesity and type 2 diabetes mellitus (T2DM). This may, in part, be facilitated by cross-talk between the two organelles during conditions of nutrient excess such as obesity, however the potential impact of ER stress on mitochondrial function has not been well studied. This study investigated whether induction of ER stress in human adipocytes may contribute to mitochondrial dy...

Introduction: Non-Hodgkin lymphoma (NHL) involving the hypothalamus and pituitary gland is rare. Central nervous system involvement by NHL may be either as a primary tumour or from systemic lymphoma. We report an interesting case of aggressive central nervous system (CNS) lymphoma presenting as pituitary macroadenoma.Case report: A 67-year-old Caucasian woman presented with sudden onset of left eye ptosis and diplopia. Examination showed left third nerve...

Introduction: Obstructive Sleep Apnoea (OSA) is more common in women with Polycystic Ovary Syndrome (PCOS). There is paucity of data regarding the impact of OSA in women with PCOS.Methods: We conducted a retrospective study using electronic patients’ records of premenopausal women with PCOS who were first seen in the weight management clinic (WMC) between March/2008 and November/2014. PCOS diagnosis was documented either by referring clinician or es...

Background: Human cohorts and animal models provide compelling evidence suggesting the role of vitamin B12 in modulating the risk of diabetes and adiposity via developmental programming. We recently demonstrated that neonates born to mothers with low B12 levels in pregnancy have adverse cord blood lipid profile and in vitro studies in human adipocytes with low B12 showed increased cholesterol biosynthesis. Therefore, we hypothesized that vitamin B12 deficiency may pla...

Introduction/background: Hypothalamic Amenorrhea (HA), or stress-induced anovulation, is one of the most common causes of secondary amenorrhea (1,2) and accounts for the reproductive dysfunction seen in under nutrition, excessive exercise, sever emotional stress and chronic disease. From a teleological standpoint, in the face of nutritional or physical stress, it is adaptive for an organism to allocate energy resources for its own survival rather than the costly process of rep...

Renalase is a recently discovered flavin adenine dinucleotide (FAD)-dependent oxidase, predominantly secreted into the circulation from the kidney and regulates catecholamine degradation and metabolism. Renalase gene is also present in heart muscle, skeletal muscle and liver cells in humans, and in mouse testicles. Four isoforms of renalase gene has been identified in humans (hRenalase1 to hRenalase4), however only hRenalase1 is detected in human blood suggesting that hRenalas...