Endocrine Abstracts

Introduction: In Endocrinology, subclinical disorders meet certain diagnostic laboratory thresholds, but are by definition asymptomatic. Subthreshold disorders in Endocrinology have not been defined. We describe two cases of cortisol deficiency, primary and secondary, with normal baseline cortisol, which were by presentation clinical, but could be characterized as subthreshold by biochemical cut-off criteria.Case 1: A 47-year-old woman was referred for a...

Introduction: Collision tumors of the thyroid are neoplasms of distinct histology located within the same gland. Although rare, the most commonly described collision tumors of thyroid origin are medullary and papillary carcinomas. We describe a case of co-existence of a benign follicular adenoma in a dominant nodule with a micropapillary and a micromedullary carcinoma in a patient carrying a heterozygous germline RET polymorphism.Case report: A 74-year-o...

Introduction: Pseudohypoparathyroidism (PHP) constitutes a heterogenous group of disorders characterized by end-organ resistance to parathyroid hormone (PTH), due to a defect in the stimulatory G protein-activated cAMP formation. PHP type Ib is characterized by renal resistance to PTH, without the phenotypic features of Albright hereditary osteodystrophy (AHO).Case report: A 31-year old woman was referred to our clinic for investigation of severe hypocal...

Introduction: rhPTH(1-84) replacement is the treatment of choice in adults with hypoparathyroidism not adequately controlled on standard therapy. Although increased bone turnover markers have consistently been reported in trials of safety and efficacy, marked elevations coupled with significant symptoms have been rare. We describe a case of increased treatment-induced bone turnover, necessitating significant therapeutic adjustments and monitoring.Case re...

Introduction: Nelson’s syndrome is a rare complication of Cushing’s disease treated with bilateral adrenalectomy. There is no effective medical treatment yet. Nelson’s patients respond to hypothalamic stimuli distinctly from patients with Cushing’s disease and those with Addison’s disease. We describe the responses to standard ACTH stimulation tests in a patient with Nelson’s syndrome.Case report: A 42-year-old woman present...

Introduction: With the advent of modern imaging, up to 30% of adrenal pheochromocytomas are discovered incidentally in asymptomatic patients. Smaller tumors may be ‘pre-biochemical’ in their secretory capacity, but truly nonfunctioning tumors over 3 cm are exceedingly rare. We describe a case of a clinically and biochemically silent pheochromocytoma.Case report: A 65-year-old woman was found to have a left adrenal incidentaloma on an abdominal ...

Introduction: Sweet’s syndrome is a rare, acute febrile neutrophilic dermatosis, associated with a variety of inflammatory and neoplastic conditions, drug reactions and rarely with a spectrum of thyroid dysfunction. A possible link between thyroid autoimmunity and Sweet’s syndrome has been previously suggested by rare reports of Hashimoto’s thyroiditis, subacute thyroiditis and classic Graves’ disease. We describe a case of ‘atypical’ hyperthyroid...

Introduction: Primary hyperparathyroidism (PHPT) may rarely coexist with non-medullary thyroid carcinoma (NMTC). We report the clinical manifestation and management of nine cases of synchronous PH and NMTC.Cases: Eight women and one man were included (mean age at diagnosis: 64±6.6 years). In all cases, PH was the initial diagnosis, whereas NMTC was detected incidentally, after ultrasound assessment for PH. The histological diagnosis of NMTC was clas...

Introduction: Asplenia has been reported in 10% of patients with type 1 APS (APS-1), but has never been reported in APS-2. We describe a patient with presumed APS-2 and aplenia.Case report: A 69-year-old woman was diagnosed with B12 deficiency with severe anemia at age 21 and insulin dependent diabetes mellitus at age 33, following routine testing. At 59, she was hospitalized with salt wasting and a diagnosis of Addison’s disease was made, which was...

Background: TAO is a rare disease, seriously involving 5% of patients with autoimmune thyroid disease. The clinical presentation may be difficult to distinguish from other orbital conditions.Case 1: A 63-year-old woman was admitted to the Neurology Service for worsening diplopia over the previous six months, with a working diagnosis of myasthenia gravis or multiple sclerosis. The Endocrine Service was consulted because of a long history of Hashimoto&#146...