Endocrine Abstracts

Increased hypothalamic–pituitary–thyroid (HPT) axis activity results in high bone turnover. T3 stimulates osteoblast and osteoclast activities, whereas TSH is proposed to inhibit bone turnover directly. Resolving the relative importance of T3 and TSH is complicated by their physiological inverse relationship. We studied 10 controls and 4 patients with resistance to thyroid hormone (RTH), in which mutation of thyroid hormone receptor beta (THR...

Introduction: Chest computed tomography imaging in patients with Covid-19 infection often reveals incidental adrenal lesions, which are subsequently investigated, after recession of the infection.Purpose: Description of a pheochromocytoma that was accidentally diagnosed in a teenager, during her hospitalization with Covid-19.Case description: A 17-year-old girl, who was diagnosed with covid-19 infection, by molecular testing 6 days...

Introduction: Adrenal ganglioneuroma (AGN) is a rare (about 470 described cases), benign tumor arising from the neural crest tissue. These tumors are usually asymptomatic and incidentally detected. They have variable radiological features that often raise suspicion of malignancy. AGN are diagnosed at a mean age of 50 years, have no gender preference and are rarely associated with genetic syndromes.Aim: The presentation of two male patients, 24 and 53 yea...

Introduction: Adrenoleukodystrophy (ALD) is a rare, X-linked inherited, genetic disease, characterized by a disorder of peroxisome metabolism, leading to the accumulation of very long-chain fatty acids (VLCFAs) mainly at the central nervous system and the adrenal glands. It usually occurs in childhood, but there are types of the disease that manifest later in life.Case: A 57-year-old man with a history of progressive spastic paresis, starting at the age ...

Introduction: Idiopathic Isolated Adrenocorticotropic hormone (ACTH) deficiency (IIAD) is a rare cause of secondary adrenal insufficiency. It can present with a variety of clinical symptoms, mainly chronic fatigue and euvolemic hyponatraemia, and may coexist with autoimmune disease, most commonly Hashimoto’s thyroiditis. Radiographically, an empty sella turcica image can be seen. We present 3 cases of isolated ACTH deficiency.Case 1: A 47-year-old w...

Introduction: Diffuse sclerosing variant of papillary thyroid carcinoma (DSPC) represents a rare but rather more aggressive subtype of PTC.Purpose: Description of a patient with DSPC and background autoimmune thyroiditis.Case description: A 33-year-old female patient reported extensive neck swelling that had progressed over several months. The patient had been diagnosed with hypothyroidism attributed to autoimmune thyroiditis, 3 ye...

Introduction: Thyrotropin (TSH) secreting pituitary adenomas (TSHomas) are very rare and account for less than 2% of all pituitary adenomas. They present with elevated levels of fT4 and normal to high levels of TSH. About 25% of TSHomas co-secrete other anterior pituitary hormones. Growth hormone (GH) is the most commonly co-secreted hormone, followed by prolactin (PRL) and gonadotropins. Herein, we report a case of pituitary adenoma with simultaneous secretion of TSH and GH.<...

Introduction: Ectopic Cushing’s Syndrome (ECS) accounts for 5-10% of all cases of endogenous hypercortisolism. ACTH secreting intrathoracic masses is the most common cause of ECS. We present two patients with ectopic Cushing’s syndrome, with particularities in diagnosis.Case 1:: A 59-year-old female presented with arterial hypertension, and osteoporosis, along with weight gain and facial plethora, starting two years before. Screening tests were...

T3-action is regulated by three iodothyronine deiodinases, which contain selenium in the active site. It is proposed that Se availability regulates thyroid function. OPUS is a European population-based prospective cohort study of post-menopausal women in which we showed thyroid function within the upper normal range is associated with reduced bone mineral density (BMD) and increased non-vertebral fracture risk. Using strict exclusion criteria we defined reference ranges for th...

The Wellcome Trust Sanger Institute Gene Targeting Programme is deleting all mouse genes and has already generated 400 knockout mice in a C57/BL6N background with a further 4000 genes targeted in ES cells. Two hundred and fifty new knockouts will undergo limited phenotyping each year. However, the programme lacks a sensitive and sufficiently detailed screen for individual physiological systems, each of which requires high throughput methodology and unique expertise. Thus, we p...