Endocrine Abstracts

A 55-year-old lady presented with visual deterioration of 2 years duration affecting both eyes. Initial examination demonstrated reduced visual acuity in the LE at finger perception and RE 6/9 with right temporal superior quadrantopia. Rest of the systemic examination was unremarkable. Relevant endocrine tests revealed a FSH-146.9 U/l and FT4-14 pmol/l. MRI pituitary demonstrated a pituitary adenoma with significant suprasellar component compressing the optic nerves...

Autosomal Dominant Hypocalcaemia (ADH) type 1 is caused by activating mutations of the calcium-sensing receptor (CaSR) gene. Although a rare condition, the exact prevalence is uncertain as patients are asymptomatic and, historically, were sometimes diagnosed with hypoparathyroidism (HPT) due insensitivity of earlier PTH assays and failure to check urinary calcium. The consequences of an erroneous diagnosis of HPT in patients with ADH can be profound, as treatment with calcium ...

Homocystinuria is a rare autosomal recessive disorder of the transsulfuration or methylation pathway in methionine metabolism.We present a case of a 25 years old female, who presented with rapid onset loss of vision in both eyes and short-sightedness. She had a background of well-controlled epilepsy, normal mental and physical development. She had no family history of Marfan’s syndrome.On examinatio...

Homocystinuria is a rare autosomal recessive disorder of the transsulfuration or methylation pathway in methionine metabolism.We present a case of a 25 years old female, who presented with rapid onset loss of vision in both eyes and short-sightedness. She had a background of well-controlled epilepsy, normal mental and physical development. She had no family history of Marfan’s syndrome.On examinatio...

Background: Hyponatraemia is a frequent finding in medical inpatients, where a comprehensive evaluation is warranted to establish the underlying mechanism and guide further management. Whilst the role of confounding medications, syndrome of inappropriate anti-diuretic hormone (SIADH), adrenal insufficiency and polydipsia is well-established as causative factors in the development of hyponatremia, the link between hypothyroidism and hyponatremia is controversial in the medical ...

Thyroid storm is a rare complication of thyrotoxicosis, life-threatening if not managed appropriately.We report a 43-year-old woman who presented to emergency services with shortness of breath, palpitations and weight loss. She was pale, cachectic, in atrial fibrillation and had signs of decompensated heart failure. Investigations showed: WBCs: 3.2×109/l, neutrophils 2.1×109/l, Hb 53 g/l, platelet 233, TSH <0.02 mIU/l, FT4 64 (10–25 pm...

Introduction: Alemtuzumab is humanized monoclonal antibody used in the treatment of relapsing–remitting multiple sclerosis (MS). The 5year incidence of thyroid adverse events in phase-3 clinical trials is up-to 40.7%. In most cases, the thyroid dysfunction is mild and easily manageable. Hyperthyroidism, particularly Graves’ disease (GD) is more common. We describe a case of unusual thyroid dysfunction in a patient treated with Alemtuzumab.Case:...

Introduction: Tolvaptan is an oral vasopressin V2 receptor antagonist which offers a novel treatment for euvolaemic and hypervolaemic hyponatraemia. Here, we report our experience with Tolvaptan in elderly patients.Case 1: Seventy sex-year-old lady with background of hypothyroidism, hypertension and alcohol excess presented with acute onset of confusion. Her admission Sodium [Na+] level was 117 mmol/l and represented an acute drop f...

A 62-year-old man presented with 1 month history of lethargy, nocturia, thirst and diplopia. On examination he had left 3rd nerve palsy with complete ptosis. MRI pituitary demonstrated a 1.3×1.1 cm enhancing mass on the left side of the pituitary gland, with invasion of the left cavernous sinus. Endocrine work up revealed partial DI, TSH and gonadotrophin deficiency. Because of unusual appearance of the pituitary lesions, a biopsy was arranged but initial histology was in...

Introduction: Sclerochoroidal calcification is an uncommon condition that classically manifests as multiple discrete yellow placoid lesions, often discovered as an incidental finding. It is ordinarily believed to be idiopathic, but is also associated with primary hyperparathyroidism. It is important that these patients are identified because of the systemic implications and treatable nature of these disorders.Case: 82 years old patient with history of Pr...