323 results match your criteria Case reports in endocrinology[Journal]


A Case of Factitious Hyperglycemia in a Patient on Intravenous Ascorbic Acid.

Case Rep Endocrinol 2018 14;2018:7063137. Epub 2018 May 14.

Division of Endocrinology, Maimonides Medical Center, Brooklyn, NY, USA.

Finger stick blood glucose meters are widely used in outpatient and inpatient settings. However, various factors can affect accuracy of readings from these meters. Here we present a patient who had spurious glucose elevation on these meters while being on intravenous ascorbic acid. Read More

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Pituitary Apoplexy Presenting as Ophthalmoplegia and Altered Level of Consciousness without Headache.

Case Rep Endocrinol 2018 9;2018:7124364. Epub 2018 May 9.

Division of Endocrinology, Department of Medicine, Riverside University Health System Medical Center, Moreno Valley, CA, USA.

Pituitary apoplexy (PA) is a clinical syndrome caused by acute ischemic infarction or hemorrhage of the pituitary gland. The typical clinical presentation of PA includes acute onset of severe headache, visual disturbance, cranial nerve palsy, and altered level of consciousness. . Read More

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Nonfunctioning Pituitary Adenoma That Changed to a Functional Gonadotropinoma.

Case Rep Endocrinol 2018 29;2018:5027859. Epub 2018 Apr 29.

Endocrinology and Metabolism Department, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de México, Mexico.

Objective: Pituitary adenomas can be classified as clinically functional or silent. Depending on the reviewed literature, these are the first or second place in frequency of the total pituitary adenomas. Even rarer is the presence of a functional gonadotropinoma since only very few case reports exist to date. Read More

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Posttransplant Tacrolimus-Induced Diabetic Ketoacidosis: Review of the Literature.

Case Rep Endocrinol 2018 9;2018:4606491. Epub 2018 May 9.

Department of Medicine, College of Medicine and Life Sciences, University of Toledo, Toledo, OH, USA.

Diabetic ketoacidosis (DKA) in patients receiving tacrolimus as part of their immunosuppressive regimen is a rarely reported adverse event. We report a patient with autosomal dominant polycystic kidney disease (ADPKD) and no known history of diabetes mellitus who presented with DKA, 3 months after kidney transplantation. Read More

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46,XY Disorder of Sex Development Caused by 17-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of Gene: Consequences of Late Diagnosis.

Case Rep Endocrinol 2018 24;2018:2086861. Epub 2018 Apr 24.

Unit of Endocrinology, Università Cattolica del Sacro Cuore and Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy.

Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.

Case Description: A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. Read More

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Scleredema Diabeticorum with Superimposed Cellulitis and Abscess Formation.

Case Rep Endocrinol 2018 16;2018:9513768. Epub 2018 Apr 16.

Interfaith Medical Center, Brooklyn, NY, USA.

Scleredema diabeticorum is a rare cutaneous manifestation of diabetes mellitus. We present a case of an obese male with poorly controlled diabetes who came to the hospital with upper back pain and subsequently developed sepsis due to a small deep-seated abscess in his back that was drained and treated with antibiotics. He was also found to have extensive induration of the skin over his back and neck. Read More

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Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies.

Case Rep Endocrinol 2018 18;2018:9412676. Epub 2018 Apr 18.

Department of Medicine, Division of Endocrinology and Metabolism and Department of Obstetrics and Gynaecology, University of Calgary, Calgary, AB, Canada.

Background: Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. WS is characterized by insulin-requiring diabetes mellitus and optic atrophy. A constellation of other features contributes to the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). Read More

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April 2018
2 Reads

A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma.

Case Rep Endocrinol 2018 15;2018:8657914. Epub 2018 Apr 15.

Department of Laboratory Medicine, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of Korea.

Pheochromocytoma and paraganglioma are tumors of neuroectoderm origin. Up to 40% of patients with these tumors have germline mutations in known susceptibility genes. We report a novel germline mutation (exon 15; c. Read More

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April 2018
1 Read

Does the Intensity of IGG4 Immunostaining Have a Correlation with the Clinical Presentation of Riedel's Thyroiditis?

Case Rep Endocrinol 2018 16;2018:4101323. Epub 2018 Apr 16.

Department of Head and Neck Surgery, Hospital das Clínicas, School of Medicine, University of São Paulo, São Paulo, SP, Brazil.

Riedel's thyroiditis (RT) represents one type of IgG4-related thyroid disease (IgG4RTD) and the diagnosis involves quantitative immunohistochemistry showing dense lymphoplasmacellular inflammatory infiltrate consisting of IgG4-positive plasma cells with storiform fibrosis and obliterative phlebitis. We report a case of RT with progressive enlargement of the anterior neck, severe dysphagia, odynophagia, and dyspnea. The patient underwent surgical decompression of the airway, protection tracheotomy, and gastrostomy for nutritional intake 6 months after first symptoms. Read More

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April 2018
3 Reads

Remarkable Presentation: Anaplastic Thyroid Carcinoma Arising from Chronic Hyperthyroidism.

Case Rep Endocrinol 2018 1;2018:7261264. Epub 2018 Apr 1.

Section of Endocrinology, Department of Internal Medicine, West Virginia University School of Medicine, Morgantown, WV, USA.

Background: Undifferentiated anaplastic carcinoma rarely develops from chronic hyperthyroidism. Although acute hyperthyroidism can develop prior to anaplastic transformation, chronic hyperthyroidism was thought to be a protective measure against thyroid malignancy.

Methods: A 79-year-old female presented acutely to the hospital with dyspnea. Read More

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Diabetes Mellitus with Poor Glycemic Control as a Consequence of Inappropriate Injection Technique.

Case Rep Endocrinol 2018 1;2018:7236452. Epub 2018 Apr 1.

Department of Internal Medicine, Chitwan Medical College Teaching Hospital, Chitwan, Nepal.

Majority of patients with diabetes mellitus (DM), who are on insulin therapy, use insulin pen for convenience, accuracy, and comfort. Some patients may require two different types of insulin preparations for better glycemic control. We have reported a case of poor glycemic control as a consequence of inappropriate insulin injection technique. Read More

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A Case of Pneumothorax after Treatment with Lenvatinib for Anaplastic Thyroid Cancer with Lung Metastasis.

Case Rep Endocrinol 2018 28;2018:7875929. Epub 2018 Mar 28.

Department of Surgery, Yokohama City University School of Medicine, Yokohama, Japan.

A 63-year-old man was diagnosed with multiple lung metastases from anaplastic thyroid cancer and received lenvatinib. Follow-up computed tomography on day 34 of lenvatinib treatment showed pneumothorax. The pneumothorax was temporarily improved with chest drainage. Read More

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Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a.

Case Rep Endocrinol 2018 22;2018:7813591. Epub 2018 Jan 22.

Department of Internal Medicine, Hospital de Chaves, Centro Hospitalar de Trás-os-Montes e Alto Douro, Chaves, Portugal.

Introduction: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype.

Materials And Methods: DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report.

Results: We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c. Read More

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January 2018

Spontaneous Regression of Metastatic Papillary Thyroid Cancer in a Lymph Node.

Case Rep Endocrinol 2018 20;2018:5873897. Epub 2018 Mar 20.

Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, University of California, Los Angeles, David Geffen School of Medicine, Los Angeles, CA 90095, USA.

Spontaneous regression of cancer is defined as disappearance of cancer in the absence of specific therapy. In thyroid cancer patients with biochemically incomplete response to initial treatments, spontaneous decline in thyroglobulin levels without any cancer treatment is a well-known phenomenon; however, spontaneous regression of persistent or recurrent structural disease has not been reported. We here present a case of papillary thyroid cancer in a 58-year-old female who underwent total thyroidectomy and two radioiodine ablations. Read More

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Adrenocorticotropic Hormone Secreting Pheochromocytoma Underlying Glucocorticoid Induced Pheochromocytoma Crisis.

Case Rep Endocrinol 2018 20;2018:3963274. Epub 2018 Feb 20.

Department of Internal Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Context: Pheochromocytomas are hormone secreting tumors of the medulla of the adrenal glands found in 0.1-0.5% of patients with hypertension. Read More

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February 2018
5 Reads

Percutaneous Ethanol Injection in Combination with Laser Ablation for a 100 ml Partially Cystic Thyroid Nodule.

Case Rep Endocrinol 2018 15;2018:8046378. Epub 2018 Feb 15.

Division of Endocrinology, "V. Fazzi" Hospital, Lecce, Italy.

Until nonsurgical techniques like laser ablation (LA) or radiofrequency became available, patients suffering from large nodules with compressive symptoms were addressed to surgery. We describe the case of a 59-year-old woman with a large, partially cystic thyroid nodule having a volume of about 100 ml. As the patient refused surgery, despite her constant local discomfort, such large partially cystic nodule underwent several percutaneous ethanol injections (PEI) and then was submitted to LA. Read More

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February 2018
2 Reads

Nightmare and Abnormal Dreams: Rare Side Effects of Metformin?

Case Rep Endocrinol 2018 17;2018:7809305. Epub 2018 Jan 17.

Internal Medicine Department, Faculty of Medicine, Universitas Pelita Harapan, Jalan Jendral Sudirman Boulevard No. 20, Lippo Karawaci, Tangerang, Banten 15811, Indonesia.

Background: Metformin is widely known as an antidiabetic agent which has significant gastrointestinal side effects, but nightmares and abnormal dreams as its adverse reactions are not well reported.

Case Presentation: Herein we present a case of 56-year-old male patient with no known history of recurrent nightmares and sleep disorder, experiencing nightmare and abnormal dreams directly after consumption of 750 mg extended release metformin. He reported his dream as an unpleasant experience which awakened him at night with negative feelings. Read More

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January 2018
2 Reads

Posaconazole-Induced Adrenal Insufficiency in a Case of Chronic Myelomonocytic Leukemia.

Case Rep Endocrinol 2018 16;2018:2170484. Epub 2018 Jan 16.

Department of Medicine, Division of Endocrinology, Diabetes and Nutrition, University of Maryland Medical Center, Baltimore, MD, USA.

Introduction: Posaconazole is an azole used in treatment and prophylaxis of a broad spectrum of fungal infections. Antifungals such as ketoconazole have been shown to cause primary adrenal insufficiency (AI) as a result of direct inhibition on the steroidogenesis pathway. There is only one reported case of primary AI induced by posaconazole in a patient with mucormycosis. Read More

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January 2018
2 Reads

Severe Hyperthyroidism Complicated by Agranulocytosis Treated with Therapeutic Plasma Exchange: Case Report and Review of the Literature.

Case Rep Endocrinol 2018 10;2018:4135940. Epub 2018 Jan 10.

Department of Internal Medicine, University of Mississippi Medical Center, Jackson, MS, USA.

Aim: To present a case of Graves' disease complicated by methimazole induced agranulocytosis treated with therapeutic plasma exchange (TPE) and review of the literature.

Case Presentation: A 21-year-old patient with a history of Graves' disease presented to the endocrine clinic. His history was significant for heat intolerance, weight loss, and tremors. Read More

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January 2018
6 Reads

Internal Spreading of Papillary Thyroid Carcinoma: A Case Report and Systemic Review.

Case Rep Endocrinol 2018 8;2018:7618456. Epub 2018 Jan 8.

Shanghai General Hospital of Nanjing Medical University, Shanghai 201620, China.

An 18-year-old female diagnosed finally as PTC with intrathyroid spread was reported, and the diagnosis and surgical treatment of internal spreading of PTC were discussed. One lump was found on the thyroid isthmus by physical examination and B ultrasound, and multiple nodular shadows were found by CT. This patient finally underwent total thyroidectomy with bilateral central node dissection due to multifocal papillary thyroid carcinoma except PTC in the isthmus found in right lobe by intraoperative frozen section. Read More

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January 2018
2 Reads

A Case of Cushing's Syndrome due to Ectopic Adrenocorticotropic Hormone Secretion from Esthesioneuroblastoma with Long Term Follow-Up after Resection.

Case Rep Endocrinol 2018 4;2018:6389374. Epub 2018 Feb 4.

Vanderbilt University Medical Center, Division of Endocrinology, Department of Medicine, Vanderbilt University, 1215 21st Avenue South, Nashville, TN 37232, USA.

We present a case of a 52-year-old male who developed Cushing's Syndrome due to ectopic adrenocorticotrophic hormone (ACTH) secretion from a large esthesioneuroblastoma (ENB) of the nasal sinuses. The patient initially presented with polyuria, polydipsia, weakness, and confusion. Computed tomography scan of the head and magnetic resonance imaging showed a 7 cm skull base mass centered in the right cribriform plate without sella involvement. Read More

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February 2018
4 Reads

Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria.

Case Rep Endocrinol 2018 4;2018:2353172. Epub 2018 Jan 4.

Division of Endocrinology, Diabetology and Metabolism, Santa Croce e Carle Hospital, Via M. Coppino 26, 12100 Cuneo, Italy.

Adrenal insufficiency is a potentially life-threatening condition when it occurs acutely, as in adrenal hemorrhage. Generally it is not reversible and requires chronic replacement therapy. Acute intermittent porphyria (AIP) is a rare genetic disease characterized by alterations in heme biosynthesis that result in accumulation of precursors in tissues. Read More

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January 2018
3 Reads

Thyroid Storm Triggered by Strangulation in a Patient with Undiagnosed Graves' Disease.

Case Rep Endocrinol 2018 2;2018:4190629. Epub 2018 Jan 2.

Division of Endocrinology, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL, USA.

Thyroid storm is the life-threatening end-organ manifestation of severe thyrotoxicosis. If left untreated, thyroid storm may cause acute heart failure, multiorgan dysfunction, and death. A high degree of suspicion is necessary to make the diagnosis and start antithyroid medications to decrease mortality. Read More

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January 2018
3 Reads

A False Positive I-131 Metastatic Survey Caused by Radioactive Iodine Uptake by a Benign Thymic Cyst.

Case Rep Endocrinol 2017 20;2017:6469015. Epub 2017 Dec 20.

Division of Endocrinology and Diabetes, The Robert Larner, M.D. College of Medicine at The University of Vermont, Burlington, VT, USA.

Thyroid carcinoma is the most common endocrine malignancy in the United States with increasing incidence and diagnosis but stable mortality. Differentiated thyroid cancer rarely presents with distant metastases and is associated with a low risk of morbidity and mortality. Despite this, current protocols recommend remnant ablation with radioactive iodine and evaluation for local and distant metastasis in some patients with higher risk disease. Read More

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December 2017
3 Reads

Localized Subcutaneous Insulin-Derived Amyloidosis Excised after Evaluation Using Ultrasonography in a Patient with Type 2 Diabetes Mellitus.

Case Rep Endocrinol 2017 18;2017:3985214. Epub 2017 Dec 18.

Manda Memorial Hospital Diabetes Center, Sapporo, Japan.

A 62-year-old man with type 2 diabetes mellitus, who had been on insulin therapy for the past 20 years, was found to have subcutaneous mass formation in the abdomen during a workup of worsened glycemic control. Because of suspected amyloid deposition, he was advised to avoid injections to the mass, which led to improvement of glycemic control. However, he strongly requested mass excision and was hospitalized. Read More

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December 2017
5 Reads

Effects of Mifepristone on Nonalcoholic Fatty Liver Disease in a Patient with a Cortisol-Secreting Adrenal Adenoma.

Case Rep Endocrinol 2017 19;2017:6161348. Epub 2017 Nov 19.

Corcept Therapeutics, 149 Commonwealth Drive, Menlo Park, CA 94025, USA.

Cushing syndrome (CS), a complex, multisystemic condition resulting from prolonged exposure to cortisol, is frequently associated with nonalcoholic fatty liver disease (NAFLD). In patients with adrenal adenoma(s) and NAFLD, it is essential to rule out coexisting endocrine disorders like CS, so that the underlying condition can be properly addressed. We report a case of a 49-year-old woman with a history of hypertension, prediabetes, dyslipidemia, biopsy-confirmed steatohepatitis, and benign adrenal adenoma, who was referred for endocrine work-up for persistent weight gain. Read More

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November 2017
4 Reads

Adrenal Oncocytic Neoplasm with Paradoxical Loss of Important Mitochondrial Steroidogenic Protein: The 18 kDA Translocator Protein.

Case Rep Endocrinol 2017 26;2017:6734695. Epub 2017 Nov 26.

Department of Pathology, Jackson Memorial Hospital/University of Miami Miller School of Medicine, Miami, FL 33136, USA.

The adrenal glands produce a variety of hormones that play a key role in the regulation of blood pressure, electrolyte homeostasis, metabolism, immune system suppression, and the body's physiologic response to stress. Adrenal neoplasms can be asymptomatic or can overproduce certain hormones that lead to different clinical manifestations. Oncocytic adrenal neoplasms are infrequent tumors that arise from cells in the adrenal cortex and display a characteristic increase in the number of cytoplasmic mitochondria. Read More

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November 2017
12 Reads

Rare Cause of Recurrent Hypoglycemia: Insulin Autoimmune Syndrome.

Case Rep Endocrinol 2017 26;2017:6423852. Epub 2017 Nov 26.

Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

We report a case of insulin autoimmune syndrome associated with several autoantibodies, presenting with recurrent hypoglycemia, predominantly in the postprandial period, which improved by dietary management and spontaneously resolved within two months. Differentiation from other causes of hyperinsulinemic hypoglycemia, such as insulinoma, is important to avoid unnecessary invasive procedures or surgical interventions. The 75-gram oral glucose tolerance test (OGTT) and mixed meal test showed a typical pattern, which may be useful indirect evidence of insulin autoimmune syndrome. Read More

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November 2017
2 Reads

Iatrogenic Cushing's Syndrome with Subsequent Adrenal Insufficiency in a Patient with Psoriasis Vulgaris Using Topical Steroids.

Case Rep Endocrinol 2017 13;2017:8320254. Epub 2017 Nov 13.

Department of Endocrinology and Metabolic Diseases, Mugla Sitki Kocman University, Faculty of Medicine, 48000 Mugla, Turkey.

Iatrogenic Cushing's syndrome (ICS) is usually related to prolonged and/or high-dose oral or parenteral steroid use. Psoriasis vulgaris (PV) is chronic inflammatory disease and characterized by periods of attack and remission. Topical steroid (TS) is the first choice of treatment for localized and mild PV. Read More

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November 2017
11 Reads

Thyrotoxicosis Associated with a Hypopharyngeal Toxic Nodular Thyroid.

Case Rep Endocrinol 2017 2;2017:5128563. Epub 2017 Nov 2.

Division of Nuclear Medicine, Department of Diagnostic Radiology, Dalhousie University, Halifax, NS, Canada.

Ectopic thyroid is a rare developmental anomaly which may be either asymptomatic or present with thyroid dysfunction as well as pressure symptoms. Here we present a novel case of thyrotoxicosis associated with a hypopharyngeal multinodular thyroid in a female. Removal of the ectopic thyroid led to normalization of the thyroid status. Read More

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November 2017
5 Reads

Celiac Disease in Patients with Cystic Fibrosis-Related Bone Disease.

Case Rep Endocrinol 2017 2;2017:2652403. Epub 2017 Nov 2.

Pulmonary Division, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.

Both cystic fibrosis (CF) and celiac disease can cause low bone mineral density (BMD) and fractures. Celiac disease may occur at a higher frequency in patients with CF than the general population, and symptoms of these conditions may overlap. We report on two patients presenting with CF-related bone disease in the past year who were subsequently found to have concurrent celiac disease. Read More

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November 2017
4 Reads

Coexistence of GH-Producing Pituitary Macroadenoma and Meningioma in a Patient with Multiple Endocrine Neoplasia Type 1 with Hyperglycemia and Ketosis as First Clinical Sign.

Case Rep Endocrinol 2017 1;2017:2390797. Epub 2017 Nov 1.

Service of Endocrinology and Nutrition, University Clinical Hospital of Salamanca, Paseo de San Vicente No. 58, 37007 Salamanca, Spain.

We present the clinical case of a patient who was admitted with an onset of diabetes mellitus (DM) with associated ketosis and whose clinical, hormonal, and radiological evolution revealed the presence of primary hyperparathyroidism, pancreatic neuroendocrine tumor, and GH-producing pituitary macroadenoma in the context of multiple endocrine neoplasia type 1 (MEN1). DM is relatively common in cases of acromegaly, but it is not generally associated with ketosis. Simultaneously, the patient presented a meningioma, which is associated with pituitary macroadenoma only in extremely rare cases. Read More

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November 2017
8 Reads

Coexistence of Primary Hyperaldosteronism and Graves' Disease, a Rare Combination of Endocrine Disorders: Is It beyond a Coincidence-A Case Report and Review of the Literature.

Case Rep Endocrinol 2017 30;2017:4050458. Epub 2017 Oct 30.

Department of Endocrinology, Colombo South Teaching Hospital, Kalubowila, Sri Lanka.

Background: Primary hyperaldosteronism is a known cause for secondary hypertension. In addition to its effect on blood pressure, aldosterone exhibits proinflammatory actions and plays a role in immunomodulation/development of autoimmunity. Recent researches also suggest significant thyroid dysfunction among patients with hyperaldosteronism, but exact causal relationship is not established. Read More

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October 2017
8 Reads

Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome.

Authors:
Asma Deeb

Case Rep Endocrinol 2017 24;2017:3892467. Epub 2017 Oct 24.

Paediatric Endocrinology Department, Mafraq Hospital, P.O. Box 2951, Abu Dhabi, UAE.

Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disease caused by deletion in the short arm of chromosome 4. It is characterized by typical fascial features and a varying degree of intellectual disabilities and multiple systemic involvement. Epidemiological studies confirmed the association of acute pancreatitis with the development of diabetes. Read More

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October 2017
7 Reads

A Novel Mutation of the in a Saudi Infant with Primary Hypoaldosteronism.

Case Rep Endocrinol 2017 23;2017:8431475. Epub 2017 Oct 23.

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 11159, Saudi Arabia.

Isolated hypoaldosteronism is a rare autosomal recessive disease presenting with severe salt wasting and failure to thrive in infancy. A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and developmental delay. Laboratory tests revealed hyponatremia, hyperkalemia, and metabolic acidosis with high renin and low aldosterone. Read More

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October 2017
7 Reads

Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature.

Case Rep Endocrinol 2017 30;2017:7287351. Epub 2017 Aug 30.

Division of Pediatric Endocrinology, Department of Pediatrics, Nemours Children's Health System, Jacksonville, FL, USA.

Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2-15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. Read More

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August 2017
6 Reads

Severe Thyrotoxicosis Secondary to Povidone-Iodine from Peritoneal Dialysis.

Case Rep Endocrinol 2017 24;2017:2683120. Epub 2017 Aug 24.

Department of Medicine, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.

A 73-year-old male on home peritoneal dialysis (PD) with recent diagnosis of atrial fibrillation presented with fatigue and dyspnea. Hyperthyroidism was diagnosed with TSH < 0.01 mIU/L and FT4 > 100 pmol/L. Read More

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August 2017
9 Reads

A Case of Hyperparathyroidism due to a Large Intrathyroid Parathyroid Adenoma with Recurrent Episodes of Acute Pancreatitis.

Case Rep Endocrinol 2017 26;2017:5376741. Epub 2017 Jul 26.

Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, Aomori 036-8562, Japan.

We report a case of a 66-year-old woman who developed hyperparathyroidism due to a large intrathyroid parathyroid adenoma with episodes of acute pancreatitis. She had previously been treated for acute pancreatitis twice. Serum calcium was 12. Read More

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July 2017
7 Reads

A Recurrent Episode of Dermatomyositis Associated with Papillary Thyroid Cancer.

Case Rep Endocrinol 2017 19;2017:7985953. Epub 2017 Jul 19.

Department of Endocrinology, Swedish American Hospital, 1253 N. Alpine Road, Rockford, IL 61107, USA.

Objective: It is uncommon for dermatomyositis to be associated with papillary thyroid cancer. We report an unusual case of papillary thyroid cancer presenting with dermatomyositis.

Methods: The case history, imaging and laboratory data is reviewed. Read More

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July 2017
5 Reads

A Case of Male Osteoporosis: A 37-Year-Old Man with Multiple Vertebral Compression Fractures.

Case Rep Endocrinol 2017 16;2017:6328524. Epub 2017 Jul 16.

Division of Endocrinology, Department of Medicine, Jewish General Hospital, McGill University, Montreal, QC, Canada H3T 1E2.

While the contributing role of testosterone to bone health is rather modest compared to other factors such as estradiol levels, male hypogonadism is associated with low bone mass and fragility fractures. Along with stimulating physical puberty by achieving virilization and a normal muscle mass and improving psychosocial wellbeing, the goals of testosterone replacement therapy in male hypogonadism also include attainment of age-specific bone mineral density. We report on a 37-year-old man who presented with multiple vertebral compression fractures several years following termination of testosterone replacement therapy for presumed constitutional delay in growth and puberty. Read More

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July 2017
7 Reads

Adrenal Ganglioneuroblastoma in Adults: A Case Report and Review of the Literature.

Case Rep Endocrinol 2017 21;2017:5796236. Epub 2017 Jun 21.

Endocrinology Service, Department of Biomedical Sciences for Health, University of Milan, IRCCS Istituto Ortopedico Galeazzi, Milan, Italy.

Incidentally discovered adrenal masses are very common given the increased number of imaging studies performed in recent years. We here report a clinical case of a 20-year-old woman who presented with left flank pain. Ultrasound examination revealed a contralateral adrenal mass, which was confirmed at computed tomography (CT) scan. Read More

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June 2017
5 Reads

Treatment of Nonclassic 11-Hydroxylase Deficiency with Ashwagandha Root.

Case Rep Endocrinol 2017 20;2017:1869560. Epub 2017 Jun 20.

Department of Medicine, New York City Health + Hospitals/Woodhull, 760 Broadway, Brooklyn, NY 11206, USA.

An elderly woman presented with acne and male pattern alopecia, which upon diagnostic evaluation was found to be due to nonclassic 11-hydroxylase deficiency. We previously reported that Ashwagandha root ameliorates nonclassic 3--ol dehydrogenase and aldosterone synthase deficiencies. This is the first report of its use being associated with amelioration of nonclassic 11-hydroxylase deficiency, where its apparent effects appear to be dose-related. Read More

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June 2017
4 Reads

Papillary Thyroid Carcinoma: Ectopic Malignancy versus Metastatic Disease.

Case Rep Endocrinol 2017 18;2017:9707031. Epub 2017 Jun 18.

Endocrinology, SJCH, San Juan, PR, USA.

Papillary thyroid carcinoma frequently metastasizes to regional lymph nodes. However, cervical lymph node metastasis as a sole manifestation of occult papillary thyroid carcinoma is rarely observed. Ectopic thyroid is an uncommon condition defined as the presence of thyroid tissue at a site other than pretracheal area. Read More

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June 2017
12 Reads

Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain.

Case Rep Endocrinol 2017 6;2017:7898713. Epub 2017 Jun 6.

Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-003 Porto Alegre, RS, Brazil.

McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require therapeutic support to reduce bone pain and prevent fractures and deformities. We report the case of a 27-year-old woman with MAS and severe fibrous dysplasia. Read More

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June 2017
4 Reads

A Case of "Late" Postsurgical Hypoparathyroidism.

Case Rep Endocrinol 2017 31;2017:3962951. Epub 2017 May 31.

Department of Head and Neck Surgery, Hospital das Clínicas, University of São Paulo School of Medicine, São Paulo, SP, Brazil.

Introduction: Postsurgical hypoparathyroidism normally occurs a short time after thyroid surgery in form of two clinical syndromes of different etiology and prognosis. The first is transitory and might spontaneously recover within a few weeks or months. The second is permanent and needs a definitive treatment. Read More

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May 2017
3 Reads

Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum.

Case Rep Endocrinol 2017 30;2017:4271978. Epub 2017 May 30.

Division of Pediatric Endocrinology, Rhode Island Hospital and Hasbro Children's Hospital, The Warren Alpert Medical School, Brown University, Providence, RI, USA.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. Read More

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May 2017
12 Reads

Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.

Case Rep Endocrinol 2017 23;2017:3905905. Epub 2017 May 23.

Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, New York University School of Medicine, New York, NY, USA.

We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D). Read More

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May 2017
3 Reads

Locally Advanced Thyroglossal Duct Cyst Carcinoma Presenting as a Neck Mass.

Case Rep Endocrinol 2017 9;2017:7014313. Epub 2017 May 9.

Department of Endocrinology, Reading Health System, West Reading, PA 19611, USA.

Thyroglossal duct cyst carcinoma is rare and occurs in just 1% of cases with thyroglossal duct cysts. It is not always possible to distinguish a thyroglossal cyst harboring malignancy from its benign counterparts unless biopsied, thus posing the dilemma. Currently there is no clear consensus on the optimal management of thyroglossal duct cyst carcinoma. Read More

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May 2017
4 Reads

Humoral Hypercalcemia of Malignancy with a Parathyroid Hormone-Related Peptide-Secreting Intrahepatic Cholangiocarcinoma Accompanied by a Gastric Cancer.

Case Rep Endocrinol 2017 10;2017:7012520. Epub 2017 May 10.

Department of Endocrinology and Metabolism, Nagoya City West Medical Center, 1-1-1 Hirate-cho, Kita-ku, Nagoya 462-8508, Japan.

Humoral hypercalcemia of malignancy (HHM) is caused by the oversecretion of parathyroid hormone-related peptide (PTHrP) from malignant tumors. Although any tumor may cause HHM, that induced by intrahepatic cholangiocarcinoma (ICC) or gastric cancer (GC) is rare. We report here a 74-year-old male who displayed HHM with both ICC and GC and showed an elevated serum PTHrP level. Read More

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May 2017
8 Reads

Myxedema Crisis Presenting with Seizures: A Rare Life-Threatening Presentation-A Case Report and Review of the Literature.

Case Rep Endocrinol 2017 2;2017:4285457. Epub 2017 May 2.

Endocrinology, Colombo South Teaching Hospital, Kalubowila, Sri Lanka.

Myxedema crisis is a life-threatening extreme form of hypothyroidism with a high mortality rate if left untreated. Myxedema crisis is commonly seen in older patients, especially in women, and is associated with signs of hypothyroidism, hypothermia, hyponatraemia, hypercarbia, and hypoxemia. Patients might present with different organ specific symptoms. Read More

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May 2017
7 Reads