Endocrine Abstracts

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: The pathogenesis of Graves’ disease (GD) and Graves’ orbitopathy (GO) is not completely understood. On the other hand, vitamin D receptor (VDR) gene polymorphisms have been associated with susceptibility to a variety of chronic autoimmune diseases. The primary aim of this study was to synthesize the best available evidence regarding the association between VDR gene polymorphisms and risk of GD. Secondary aim was to search for their association with GO.<...

Introduction: Hajdu Cheney Syndrome (HCS) is a rare genetic autosomal dominant disorder affecting multiple organ systems, characterized by distinctive facial features, acroosteolysis and severe osteoporosis. In a limited number of cases, the disease appears in association with polycystic kidney disease (PKD) or Crohn’s disease (CD). Splenomegaly has also been reported. Heterozygous gain-of-function mutations in NOTCH2 gene have been confirmed to be the cause of H...

Introduction: Primary hyperparathyroidism associated with multiple myeloma has been rarely reported to coincide, but relapse of previously remitted primary hyperparathyroidism concurrent with a plasma cell proliferative disorder has not been described.Case report: A 76-year-old female was referred to the endocrine clinic for evaluation of primary hyperparathyroidism discovered incidentally during hospitalization for angina. She had a corrected calcium of...

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: PD-1 inhibitors are powerful disruptors of self- tolerance and autoimmune diabetes develops in up to 0.9% of patients. Lipodystrophic insulin reactions, although uncommon with human insulin analogs, are a recognized cause of impaired insulin delivery in patients on intensive insulin regimens. We describe a patient with resistant lymphoma and nivolumab-induced autoimmune diabetes, who suffered loss of glycemic control due to early radiation-induced subcutaneous fi...

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...

Introduction: Patients with benign thyroid disease may present an impaired Quality of Life (QoL). However, evidence of cosmetic complaints in patients with thyroid disease is limited. The aim of the current study was to investigate the cosmetic complaints of patients with thyroid disease and determine any associations with specific clinical characteristics.Methods: A cross-sectional study was performed. Patients with benign thyroid disease who attended t...