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Case Reports in Endocrinology

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https://www.readbyqxmd.com/read/29318061/adrenal-oncocytic-neoplasm-with-paradoxical-loss-of-important-mitochondrial-steroidogenic-protein-the-18%C3%A2-kda-translocator-protein
#1
Roberto Ruiz-Cordero, Alia Gupta, Arumugam R Jayakumar, Gaetano Ciancio, Gunnlaugur Petur Nielsen, Merce Jorda
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...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29318060/rare-cause-of-recurrent-hypoglycemia-insulin-autoimmune-syndrome
#2
Rungsima Tinmanee, Rungpailin Buranagan, Sirirat Ploybutr, Raweewan Lertwattanarak, Apiradee Sriwijitkamol
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...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29259830/iatrogenic-cushing-s-syndrome-with-subsequent-adrenal-insufficiency-in-a-patient-with-psoriasis-vulgaris-using-topical-steroids
#3
Suzan Demir Pektas, Gursoy Dogan, Nese Cinar
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. The development of systemic side effects of the steroids is usually not observed after TS application. But the risk of developing ICS still exists. In the literature, there are a few adult cases who developed ICS and subsequent adrenal insufficiency associated with TS...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29230334/thyrotoxicosis-associated-with-a-hypopharyngeal-toxic-nodular-thyroid
#4
S Ali Imran, Adam Hinchey, Rob Hart, Martin Bullock, Andrew Ross, Steven Burrell
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.
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29230333/celiac-disease-in-patients-with-cystic-fibrosis-related-bone-disease
#5
Melissa S Putman, Alexandra Haagensen, Isabel Neuringer, Leonard Sicilian
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. Because adherence to a gluten-free diet may improve BMD in patients with celiac disease, this could have important implications for treatment...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29225978/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
#6
A Herrero-Ruiz, H S Villanueva-Alvarado, J J Corrales-Hernández, C Higueruela-Mínguez, J Feito-Pérez, J M Recio-Cordova
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...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29214084/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
#7
S S C Gunatilake, U Bulugahapitiya
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. Autoimmune hyperthyroidism (Graves' disease) and primary hyperaldosteronism rarely coexist but underlying mechanisms associating the two are still unclear...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29204299/diabetes-mellitus-secondary-to-acute-pancreatitis-in-a-child-with-wolf-hirschhorn-syndrome
#8
Asma Deeb
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. However, this association has not been reported in WHS. We report an 18-year-old girl with WHS who presented acutely with nonketotic Hyperglycemic Hyperosmolar Status (HHS) in association with severe acute pancreatitis...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/29201470/a-novel-mutation-of-the-cyp11b2-in-a-saudi-infant-with-primary-hypoaldosteronism
#9
Lama Alfaraidi, Abrar Alfaifi, Rawan Alquaiz, Faten Almijmaj, Horia Mawlawi
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. Blood samples were collected for endocrine and genetic studies. Sequence analysis of the CYP11B2 revealed a T to A transition at position 1398 + 2 in exon 8 of the gene in a homozygous state (c...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28948052/short-stature-homeobox-containing-haploinsufficiency-in-seven-siblings-with-short-stature
#10
Elizabeth S Sandberg, Ali S Calikoglu, Karen J Loechner, Lydia L Snyder
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. His past medical history and birth history were unremarkable. Family history was notable for multiple individuals with short stature. Physical exam revealed short stature, with height standard deviation score (SDS) of -2...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28912982/severe-thyrotoxicosis-secondary-to-povidone-iodine-from-peritoneal-dialysis
#11
Kirstie Lithgow, Christopher Symonds
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. He had no personal or family history of thyroid disease. There had been no exposures to CT contrast, amiodarone, or iodine. Technetium thyroid scan showed diffusely decreased uptake. He was discharged with a presumptive diagnosis of thyroiditis. Three weeks later, he had deteriorated clinically...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28815093/a-case-of-hyperparathyroidism-due-to-a-large-intrathyroid-parathyroid-adenoma-with-recurrent-episodes-of-acute-pancreatitis
#12
Kazunori Kageyama, Noriko Ishigame, Aya Sugiyama, Akiko Igawa, Takashi Nishi, Satoko Morohashi, Hiroshi Kijima, Makoto Daimon
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 12.4 mg/dL, and intact parathyroid hormone was 253 pg/dL. Ultrasonography and computed tomography of the neck with contrast enhancement revealed a soft tissue mass (28 mm transverse diameter) within the left lobe of the thyroid. (99m)Tc-MIBI scintigraphy demonstrated focal accumulation due to increased radiotracer uptake in the left thyroid lobe...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28804657/a-recurrent-episode-of-dermatomyositis-associated-with-papillary-thyroid-cancer
#13
Vijay Gopal Eranki
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. RESULTS: We report the case of a 62-year-old female with a prior history of dermatomyositis and breast cancer who presented with a recurrent episode of dermatomyositis. Extensive evaluation of the cause of the dermatomyositis recurrence revealed no recurrence of the breast cancer but a thyroid nodule was identified...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28791186/a-case-of-male-osteoporosis-a-37-year-old-man-with-multiple-vertebral-compression-fractures
#14
Suhaib Radi, Andrew C Karaplis
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...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28713603/adrenal-ganglioneuroblastoma-in-adults-a-case-report-and-review-of-the-literature
#15
Stefano Benedini, Giorgia Grassi, Carmen Aresta, Antonietta Tufano, Luca Fabio Carmignani, Barbara Rubino, Livio Luzi, Sabrina Corbetta
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. Hormonal hypersecretion was excluded. Given the size (11 × 10 × 7 cm) and the uncertain nature of the mass, it was surgically removed and sent for pathological analyses. Conclusive diagnosis was ganglioneuroblastoma...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28713602/treatment-of-nonclassic-11-hydroxylase-deficiency-with-ashwagandha-root
#16
Daniel Powell, Taiga Inoue, Gül Bahtiyar, Gabriel Fenteany, Alan Sacerdote
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-β-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.
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28702266/papillary-thyroid-carcinoma-ectopic-malignancy-versus-metastatic-disease
#17
Yanery's Agosto-Vargas, Madeleine Gutiérrez, José Hernán Martínez, Michelle Mangual-Garcia, Coromoto Palermo, Sharon Vélez-Maymi, Luis Hernández-Vázquez, Samayra Miranda-Rodríguez, Alex González-Bossolo, Ernesto Solá-Sánchez, Marianne Hernández-Negrón
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. Approximately 1-3% of all ectopic thyroid tissue is located in the lateral neck. This entity may represent the only functional thyroid tissue in the body. Malignant transformation of ectopic thyroid is uncommon; but even rarer is the development of papillary carcinoma on it...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28676838/effect-of-intranasal-calcitonin-in-a-patient-with-mccune-albright-syndrome-fibrous-dysplasia-and-refractory-bone-pain
#18
Tayane Muniz Fighera, Poli Mara Spritzer
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. She was diagnosed with MAS at 4 years of age and, during follow-up, she had multiple pathological fractures and bone pain refractory to treatment with bisphosphonates, tricyclic antidepressants, and opioids...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28642829/a-case-of-late-postsurgical-hypoparathyroidism
#19
Cesar Augusto Simões, M K Costa, L B Comerlato, A A Ogusco, V Araújo Filho, R A Dedivitis, C R Cernea
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. Only few cases of hypoparathyroidism clinically evident after many years from surgery have been reported. CASE REPORT: A case of hypoparathyroidism clinically evident only three and a half years after surgery is reported...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28638668/severe-short-stature-in-an-adolescent-male-with-prader-willi-syndrome-and-congenital-adrenal-hyperplasia-a-therapeutic-conundrum
#20
Meredith Wasserman, Erin M Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos
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. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height...
2017: Case Reports in Endocrinology
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