Endocrine Abstracts

Introduction: Familial hypocalciuric hypercalcemia (FHH) causes lifelong hypercalcemia, which, in general, is not associated with significant morbidity. FHH1, the most common type of the disease, is inherited in an autosomal dominant pattern and caused by inactivating mutations in the Calcium Sensing Receptor (CaSR) gene, located in chromosome 3. Inactivation of CaSR in parathyroid cells results in a shift of calcium set point to higher values with consequent...

Introduction: Osteoporosis of pregnancy and postpartum is a rare clinical entity, which usually presents with back pain, due to spine fractures. We aimed to describe four different cases presenting with back pain and fractures post-partum, in who, with diverse underlying pathophysiology, recovery time and treatments used.Case 1: A 32-year-old patient presented with intense back pain and difficulty in standing and walking, 2 weeks after delivery. She had ...

Introduction: Vertebroplasty is a commonly performed technique in the management of vertebral compression fractures. However, it is associated with some serious adverse effects. Most complications are related to the leakage of bone cement (polymethylmethacrylate) into the spinal canal or the perivertebral venous system.Case report: A 74-year-old lady was subjected to percutaneous verterbroplasty for osteoporotic compression fractures on T11, T12, L1 and ...

Introduction: The description of a rare case of papillary thyroid cancer, neck paraganglioma, pituitary adenoma and Cowden-like syndrome.Case report: A 43-year-old woman presented with enlargement of her right thyroid lobe and a palpable ipsilateral neck mass. The pathology examination after operation of the two lesions revealed the synchronous presentation of a papillary thyroid carcinoma and a neck paraganglioma. Patient’s medical history included...

Introduction: Increased prevalence of thyroid autoimmunity has been described in few cases after successful treatment for Cushing’s syndrome. In De Quervain’s thyroiditis (DQT) autoimmunity does not seem to play a primary pathogenetic role.We describe two cases of DQT coinciding with the resolution of hypercortisolism, after successful treatment of Cushing’s syndrome/disease.Case 1: A 41-year-old female with Cushing&...

Introduction: VATER syndrome is a rare, usually sporadic, entity, including ≥2 of the following: vertebral defects (V), anal atresia (A), tracheoesophegeal fistula, esophageal atresia (TE) and radial or renal dysplasia (R).Maturity onset diabetes of youth (MODY) is a usually non-insulin-dependent type of monogenic diabetes mellitus (DM), usually in adults <25 years, with autosomal dominant inheritance, without the features of metabolic syndrome...

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: 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...

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...