Endocrine Abstracts

Objective: To analyze the clinicopathological features of pseudohypoparathyroidism (PHP), that would help clinicians to consider this rare condition in children.Methods: A retrospective review of nine patients with PHP (including seven males and three females) admitted to our hospital between 1990 and 2014 was conducted. Clinical and biochemical parameters along with epidemiological data were extracted and analyzed.Results: The mea...

Introduction: Thyroid amyloidosis is defined as amyloid protein and fat deposition within the thyroid gland. It is classified as either primary (idiopathic) or secondary to inflammatory/chronic disease. Albeit deposition of amyloid protein in thyroid tissue is frequent, amyloidosis affecting exclusively the thyroid gland without evidence of other organs involved is extremely rare. We report a clinical case of a patient who underwent lobectomy due to a toxic adenoma, whose hist...

Introduction: Thyrotoxic periodic paralysis (TPP) is a potentially life-threatening complication of hyperthyroidism that is underdiagnosed and frequently missed. It is relatively common in Asian men with Graves’ disease. TPP attacks are frequently associated with hypokalemia.Case presentation: We describe a 26-year-old Asian male with an unremarkable past medical history who was admitted following sudden onset of flaccid paralysis of the lower extre...

Introduction: Subacute thyroiditis (SAT) association with papillary thyroid carcinoma (PTC) has been rarely reported in the literature. Metastatic neoplasms to the thyroid are rare in clinical practice. Renal cell carcinomas (RCC) are the most frequent site of origin of thyroid metastases (12 to 34%). Tumor-to-tumor metastases, in which a thyroid neoplasm is the recipient of a metastasis, are exceedingly rare. Tuberous sclerosis (TS) is associated with several renal manifestat...

Introduction: Biochemical testing for Paraganglioma/Pheochromocytoma (PGL/PHEO) is recommended in patients with classical symptoms, in those harbouring an adrenal incidentaloma and in patients who have a hereditary risk for developing a PGL/PHEO. Measurements of plasma free metanephrines and/or urinary fractionated metanephrines provide a highly sensitive test for diagnosis but false-positive results remain a problem.Aim: Comparative analysis of plasma a...

Introduction: Parathyroid hyperplasia is the second cause of primary hyperparathyroidism (PH), representing 15–20% of all cases. The scintigraphy with Tc-99m-Sestamibi is a preoperative exam used to identify parathyroid adenomas or hyperplasia. It has a sensibility of 50–90%, which increases with larger parathyroid size. The neck ultrasonography (US) has also an important role detecting parathyroid enlarged glands with 70% sensibility. We report a case of parathyroid...

Introduction: Hemangioblastomas (HBL) in the pituitary stalk are extremely rare. Most pituitary stalk HBL reported in the literature were associated with von Hippel–Lindau (VHL) disease.Case report: We report the case of a 34-year-old female patient with VHL disease diagnosed at the age of 18 with multiple complications (bilateral retinal and cerebellum HBL, renal cell carcinoma). Brain magnetic resonance imaging (MRI) demonstrated an hypointense su...

Introduction: CHARGE Syndrome (CS) is a rare cause of hypogonadotropic hypogonadism (HH), usually diagnosed in paediatric age when pubertal development is compromised. Herein, we report a case that presented a major criterion and three minor criteria.Case report: At age ten, the patient was referred to the paediatric endocrinology unit due to phenotypic alterations and psychomotor and cognitive impairment. She had no family history of consanguinity, inhe...

Introduction: Ogilvie’s syndrome (acute colonic pseudo-obstruction) is a syndrome in which the clinical features resemble those of mechanical obstruction with massive colonic dilatation, in the absence of any demonstrable evidence of such an obstruction in the intestine. The exact pathophysiology of intestinal pseudo-obstruction remains to be elucidated. Current theories continue to suggest the idea of an imbalance in the autonomic nervous system. The initial therapy rema...

Obesity is growing fast worldwide. Although environmental factors play a major role, endocrine dysfunction may contribute to the weight gain. We report an invasive macroprolactinoma diagnosed in obesity setting. A 35-year-old male was referred to our endocrine outpatient department due to grade 2 obesity (IMC 38.4 Kg/m2). His weight was increasing since the beginning of his professional activity at the age of 20 due to a sedentary lifestyle. On physical examination he had an h...