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Case Reports in Endocrinology

Asami Hotta, Tomohiro Tanaka, Haruka Kato, Shota Kakoi, Yuki Shimizu, Chie Hasegawa, Akiko Hayakawa, Satoshi Yasuda, Kento Ogawa, Shunsuke Ito, Hideomi Ohguchi, Takashi Yagi, Hiroyuki Koyama, Mihoko Kawamura, Kazuhiko Sugitani, Yuichiro Ogura, Takashi Joh, Kenro Imaeda
We report of a case of Graves' ophthalmopathy presented solely with symptoms of the eyes with normal thyroid function tests and negative immunoreactive TSH receptor autoantibody. 40-year-old male was referred to our hospital due to 2-month history of ocular focusing deficit without any signs or symptoms of hyper- or hypothyroidism. Serum thyroid function tests and 99m Tc uptake were both within the normal range. Anti-thyroid autoantibodies were all negative except for the cell-based assay for serum TSH receptor stimulating activity...
2018: Case Reports in Endocrinology
Andrew J Spiro, Katherine N Vu, Alicia Lynn Warnock
Objective: To present the case of an atypical Hepatocyte Nuclear Factor 4 Alpha (HNF4A) mutation that is not consistent with the classically published presentation of HNF4A -Mature Onset Diabetes of the Young (MODY). Methods: Clinical presentation and literature review. Results: A 43-year-old nonobese man was referred to the endocrinology clinic for evaluation of elevated fasting blood glucose (FBG) measurements. Laboratory review revealed prediabetes and hypertriglyceridemia for the previous decade...
2018: Case Reports in Endocrinology
Kaitlyn Vennard, Matthew P Gilbert
Thyroid storm is a rare endocrine emergency characterized by dysfunction of multiple organ systems. Thyroid storm is more common in Graves' disease and can be precipitated by surgery, trauma, infection, metabolic abnormalities, iodine load, and parturition. We present a diagnostically challenging case of thyroid storm precipitated by radioiodine therapy and accompanied by bradycardia, a rare but life-threatening complication related to treatment for hyperthyroidism.
2018: Case Reports in Endocrinology
Nick Si Rui Lan, P Gerry Fegan
Thyrotoxic periodic paralysis is an infrequent manifestation of hyperthyroidism and an uncommon cause of muscle weakness in western countries. The diagnosis should be considered in the differential when a patient presents with transient and recurrent weakness associated with hypokalaemia. We present a case of a 26-year-old Asian male presenting with sudden onset muscle weakness affecting predominantly his lower limbs on a background of weight loss. Physical examination demonstrated symmetrical proximal muscle weakness with normal sensation and reflexes...
2018: Case Reports in Endocrinology
D Magalhães, C Costa, I Furtado, M J Matos, A P Santos, H Duarte, M Afonso, J Lobo, I Torres
Thyroid carcinoma is the most common endocrine neoplasia. Differentiated thyroid carcinomas (DTCs) represent the majority of cases, which usually follow an indolent clinical course with low mortality rates. The authors describe two cases of well DTC without classic histological poor prognosis features, presenting as extensive and unresectable osteolytic bone metastases. DTCs are considered harmless tumours, due to their benign and silent behaviour. The authors want to underline the importance of clinical awareness during follow-up in cases of DTC, which can be aggressive in presentation and behaviour...
2018: Case Reports in Endocrinology
Eliza Sharma, Christine Resta, Patricia Park
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.
2018: Case Reports in Endocrinology
Nooshin Salehi, Anthony Firek, Iqbal Munir
Background. 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. Case Report . A 78-year-old man presented to the emergency department with one-day history of ptosis and diplopia and an acute-onset episode of altered level of consciousness which was resolving. He denied having headache, nausea, or vomiting...
2018: Case Reports in Endocrinology
Gerson Geovany Andino-Ríos, Lesly Portocarrero-Ortiz, Carlos Rojas-Guerrero, Alejandro Terrones-Lozano, Alma Ortiz-Plata, Alfredo Adolfo Reza-Albarrán
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. The conversion of a clinically silent to functional pituitary adenoma is extraordinarily rare; the mechanisms that explain these phenomena are unknown or not fully understood. Methods: We report the case of a woman who initially had a nonfunctional gonadotropinoma and in the course of her medical condition showed biochemical changes in her hormonal pituitary profile compatible with a functional gonadotropinoma...
2018: Case Reports in Endocrinology
Zaid Ammari, Stella C Pak, Mohammed Ruzieh, Osama Dasa, Abhinav Tiwari, Juan C Jaume, Maria A Alfonso-Jaume
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.
2018: Case Reports in Endocrinology
Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi, Salvatore Maria Corsello
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...
2018: Case Reports in Endocrinology
Binav Shrestha, Eliza Sharma, Osama Mukhtar, Jaspreet Kaler, Shivani Thapa, Mazin Khalid
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. Skin biopsy confirmed the diagnosis of scleredema diabeticorum.
2018: Case Reports in Endocrinology
N B Toppings, J M McMillan, P Y B Au, O Suchowersky, L E Donovan
Background: Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, 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). This review seeks to raise awareness of this rare form of diabetes so that individuals with WS are identified and provided with appropriate care...
2018: Case Reports in Endocrinology
Jin Wook Yi, Hye In Kang, Su-Jin Kim, Chan Yong Seong, Young Jun Chai, June Young Choi, Moon-Woo Seong, Kyu Eun Lee, Sung Sup Park
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 RET germline mutation (exon 15; c.2692G>T (D898Y)) in a pheochromocytoma patient, as well as in her two asymptomatic sons and older sister. A 49-year-old female came to our clinic presenting with a right adrenal gland mass detected during a healthcare examination. Her mother and two sisters had previously undergone thyroidectomy for papillary thyroid carcinomas...
2018: Case Reports in Endocrinology
C A Simões, M R Tavares, N M M Andrade, T M Uehara, R A Dedivitis, C R Cernea
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...
2018: Case Reports in Endocrinology
Habib G Zalzal, Jeffson Chung, Jessica A Perini
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. She had been taking methimazole for chronic hyperthyroidism due to toxic thyroid nodules, previously biopsied as benign. Upon admission, imaging showed tracheal compression, requiring a total thyroidectomy with tracheostomy for airway management...
2018: Case Reports in Endocrinology
Ramesh Sharma Poudel, Shakti Shrestha, Sushma Bhandari, Rano Mal Piryani, Shital Adhikari
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. A 57-year-old man with type 2 DM had been using premix insulin 30 : 70 for his glycemic control for the last 12 years. On follow-up visit, his blood sugar level (BSL) had increased; therefore the treating physician increased the dose of premix insulin and added basal insulin with the aim of controlling his blood sugar level...
2018: Case Reports in Endocrinology
Haruhiko Yamazaki, Hiroyuki Iwasaki, Toshinari Yamashita, Tatsuya Yoshida, Nobuyasu Suganuma, Takashi Yamanaka, Katsuhiko Masudo, Hirotaka Nakayama, Kaori Kohagura, Yasushi Rino, Munetaka Masuda
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. However, pleurodesis was performed to treat a relapse of the pneumothorax. Pneumothorax during chemotherapy for a malignant tumor is considered a relatively rare complication. This case is the first documentation that pneumothorax may develop during lenvatinib treatment...
2018: Case Reports in Endocrinology
Adelaide Moutinho, Rosa Carvalho, Rita Ferreira Reis, Sandra Tavares
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...
2018: Case Reports in Endocrinology
Jien Shim, Jianyu Rao, Run Yu
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...
2018: Case Reports in Endocrinology
Gil A Geva, David J Gross, Haggi Mazeh, Karine Atlan, Iddo Z Ben-Dov, Matan Fischer
Context: Pheochromocytomas are hormone secreting tumors of the medulla of the adrenal glands found in 0.1-0.5% of patients with hypertension. The vast majority of pheochromocytomas secrete catecholamines, but they have been occasionally shown to also secrete interleukins, calcitonin, testosterone, and in rare cases adrenocorticotropic hormone. Pheochromocytoma crisis is a life threatening event in which high levels of catecholamines cause a systemic reaction leading to organ failure. Case Description: A 70-year-old man was admitted with acute myocardial ischemia following glucocorticoid administration as part of an endocrine workup for an adrenal mass...
2018: Case Reports in Endocrinology
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