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Case Reports in Endocrinology

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https://www.readbyqxmd.com/read/27847655/surgical-management-of-life-threatening-thyroid-haematoma-following-occult-blunt-neck-trauma
#1
Ronak Ved, Neil Patel, Michael Stechman
A 42-year-old man arrived at the emergency department in severe respiratory distress, requiring immediate intubation and ventilation. An emergency computed tomography (CT) neck scan identified a substantial haematoma within a multinodular goitre, necessitating an emergency total thyroidectomy. It was later discovered that the patient had been the victim of an assault involving blunt trauma to the anterior neck. Five days postoperatively the patient was extubated and was well enough to self-discharge the following day...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27843655/moyamoya-disease-with-coexistent-hypertriglyceridemia-in-pediatric-patient
#2
Jacqueline Chan, Fabiola D'Ambrosio Rodriguez, Deepank Sahni, Claudia Boucher-Berry
Moyamoya disease is a rare chronic and progressive cerebrovascular disease of the arteries of the circle of Willis that can affect children and adults. It has been associated with multiple diseases, including immunologic, like Graves' disease, diabetes mellitus, and SLE. Hyperlipidemia has been recognized in patients with Moyamoya disease with an incidence of 27-37%. However, no case in pediatric patients has been reported of the coexistence of Moyamoya disease and hyperlipidemia. Here we present a case of a 9-year-old female diagnosed with Moyamoya disease after a stroke with incidental finding of familial hypercholesterolemia...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27843654/anterior-pituitary-aplasia-in-an-infant-with-ring-chromosome-18p-deletion
#3
Edward J Bellfield, Jacqueline Chan, Sarah Durrin, Valerie Lindgren, Zohra Shad, Claudia Boucher-Berry
We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27774323/syndrome-of-reduced-sensitivity-to-thyroid-hormones-two-case-reports-and-a-literature-review
#4
Anastasios Anyfantakis, Dimitrios Anyfantakis, Irene Vourliotaki
Resistance to thyroid hormone (RTH) is an extremely rare dominantly inherited condition of impaired tissue responsiveness to thyroid hormone (TH). Most patients with RTH have mutations in the gene that encodes the β isoform of the receptor of thyroid hormone (THR-β gene). Mutant receptors are unable to activate or repress target genes. The majority of them are asymptomatic or rarely have hypo- or hyperthyroidism. RTH is suspected by the finding of persistent elevation of serum levels of free T3 (FT3) and free T4 (FT4) and nonsuppressed TSH...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27656301/occult-langerhans-cell-histiocytosis-presenting-with-papillary-thyroid-carcinoma-a-thickened-pituitary-stalk-and-diabetes-insipidus
#5
Michael S Gordon, Murray B Gordon
Etiologies of a thickened stalk include inflammatory, neoplastic, and idiopathic origins, and the underlying diagnosis may remain occult. We report a patient with a thickened pituitary stalk (TPS) and papillary thyroid carcinoma (PTC) whose diagnosis remained obscure until a skin lesion appeared. The patient presented with PTC, status postthyroidectomy, and I(131) therapy. PTC molecular testing revealed BRAF mutant (V600E, GTC>GAG). She had a 5-year history of polyuria/polydipsia. Overnight dehydration study confirmed diabetes insipidus (DI)...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27651959/bilateral-carotid-cavernous-fistulas-an-uncommon-cause-of-pituitary-enlargement-and-hypopituitarism
#6
Anthony Liberatore, Ronald M Lechan
Carotid-cavernous fistulas (CCFs) are rare, pathologic communications of the carotid artery and the venous plexus of the cavernous sinus. They can develop spontaneously in certain at risk individuals or following traumatic head injury. Typical clinical manifestations include headache, proptosis, orbital pain, and diplopia. We report a case of bilateral carotid-cavernous fistulas associated with these symptoms and also with pituitary enlargement and hypopituitarism, which improved following surgical intervention...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27597905/cerebrovascular-accident-due-to-thyroid-storm-should-we-anticoagulate
#7
Alex Gonzalez-Bossolo, Alexis Gonzalez-Rivera, Santiago Coste-Sibilia
Thyroid storm is a life-threatening condition that occurs secondary to an uncontrolled hyperthyroid state. Atrial fibrillation is a cardiovascular complication occurring in up to 15% of patients experiencing thyroid storm, and if left untreated this condition could have up to a 25% mortality rate. Thyroid storm with stroke is a rare presentation. This case report details a left middle cerebral artery (MCA) stroke with global aphasia and thyroid storm in a 53-year-old Hispanic male patient. Although uncommon, this combination has been reported in multiple case series...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27579188/a-novel-t55a-variant-of-gs-%C3%AE-associated-with-impaired-camp-production-bone-fragility-and-osteolysis
#8
Kelly Wentworth, Alyssa Hsing, Ashley Urrutia, Yan Zhu, Andrew E Horvai, Murat Bastepe, Edward C Hsiao
G-protein coupled receptors (GPCRs) mediate a wide spectrum of biological activities. The GNAS complex locus encodes the stimulatory alpha subunit of the guanine nucleotide binding protein (Gsα) and regulates production of the second messenger cyclic AMP (cAMP). Loss-of-function GNAS mutations classically lead to Albright's Hereditary Osteodystrophy (AHO) and pseudohypoparathyroidism, often with significant effects on bone formation and mineral metabolism. We present the case of a child who exhibits clinical features of osteolysis, multiple childhood fractures, and neonatal SIADH...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27525132/persistent-primary-hyperparathyroidism-severe-vitamin-d-deficiency-and-multiple-pathological-fractures
#9
Victoria Mendoza-Zubieta, Mauricio Carvallo-Venegas, Jorge Alberto Vargas-Castilla, Nicolás Ducoing-Sisto, Alfredo Alejandro Páramo-Lovera, Lourdes Josefina Balcázar-Hernández, Julián Malcolm Mac Gregor-Gooch
Persistent primary hyperparathyroidism (PHPT) refers to the sustained hypercalcemia state detected within the first six months following parathyroidectomy. When it coexists with severe vitamin D deficiency, the effects on bone can be devastating. We report the case of a 56-year-old woman who was sent to this center because of persistent hyperparathyroidism. Her disease had over 3 years of evolution with nephrolithiasis and hip fracture. Parathyroidectomy was performed in her local unit; however, she continued with hypercalcemia, bone pain, and pathological fractures...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27516913/mifepristone-accelerates-hpa-axis-recovery-in-secondary-adrenal-insufficiency
#10
Pejman Cohan
Context. Transient secondary adrenal insufficiency (SAI) is an expected complication following successful adenomectomy of ACTH-secreting pituitary adenomas or unilateral adrenalectomy for cortisol-secreting adrenal adenomas. To date, no pharmacological therapy has been shown to hasten recovery of the hypothalamic-pituitary-adrenal (HPA) axis in this clinical scenario. Case Description. A 33-year-old woman underwent uncomplicated unilateral adrenalectomy for a 3.7 cm cortisol-secreting adrenal adenoma. Postoperatively, she developed SAI and was placed on hydrocortisone 15 mg/day, given in divided doses...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27446618/prolactinoma-a-massive-effect-on-bone-mineral-density-in-a-young-patient
#11
Scott Sperling, Harikrashna Bhatt
This case highlights a prolactinoma in a young male, and its impact on bone health. Osteoporosis has been noted to be an issue in postmenopausal women with prolactinomas. This case shows a similar impact on bone health in a young male resulting in low bone mineral density for age based on Z-score. This case report highlights the possible mechanisms for the bone loss in the setting of prolactinoma and the need for assessing bone health in such patients. Furthermore it highlights the need for a thorough evaluation in such patients...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27413559/plurihormonal-cosecretion-by-a-case-of-adrenocortical-oncocytic-neoplasm
#12
J J Corrales, C Robles-Lázaro, A I Sánchez-Marcos, M C González-Sánchez, P Antúnez-Plaza, J M Miralles
Adrenocortical oncocytic neoplasms (oncocytomas) are extremely rare; only approximately 159 cases have been described so far. The majority are nonfunctional and benign. We describe an unusual case of a functional oncocytoma secreting an excess of glucocorticoids (cortisol) and androgens (androstenedione and DHEAS), a pattern of plurihormonal cosecretion previously not reported in men, presenting with endocrine manifestations of Cushing's syndrome. The neoplasm was considered to be of uncertain malignant potential (borderline) according to the Lin-Weiss-Bisceglia criteria...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27413558/intermittent-fever-progressive-weight-gain-and-personality-changes-in-a-five-year-old-girl-unusual-paraneoplastic-syndrome-due-to-presacral-ganglioneuroma
#13
Chao Yang, Chang-Chun Li, Jun Zhang, Xiang-Ru Kong, Zhenzhen Zhao, Xiao-Bin Deng, Liang Peng, Shan Wang
Ganglioneuromas are rare tumors in the neuroblastoma group. Paraneoplastic syndrome (PNS) due to presacral ganglioneuromas was hardly reported in previous literature. Here, we reported that a case of a 5-year-old girl with a presacral ganglioneuroma presented with PNS, who presented with intermittent fever, progressive weight gain, and personality changes. Our report revealed intermittent fever, progressive weight gain, and personality changes may represent rare paraneoplastic syndromes in ganglioneuromas.
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27375907/adrenal-insufficiency-under-standard-dosage-of-glucocorticoid-replacement-after-unilateral-adrenalectomy-for-cushing-s-syndrome
#14
Kentaro Fujii, Kazutoshi Miyashita, Isao Kurihara, Ken Hiratsuka, Seiji Sato, Kenichi Yokota, Sakiko Kobayashi, Hirotaka Shibata, Hiroshi Itoh
Glucocorticoid replacement is needed for patients after adrenal surgery for Cushing's syndrome; however, the adequate dosage is not easily determined. The patient was a 62-year-old woman who has had hypertension for 5 years and presented with heart failure due to hypertrophic cardiomyopathy. She consulted with us because of general fatigue, facial edema, and muscle weakness and was diagnosed with Cushing's syndrome. A laparoscopic left adrenalectomy was performed, standard dosage of postoperative replacement was administered, and she was discharged with 30 mg/day of hydrocortisone (cortisol)...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27366333/a-case-of-glucocorticoid-remediable-aldosteronism-and-thoracoabdominal-aneurysms
#15
Anahita Shahrrava, Sunnan Moinuddin, Prajwal Boddu, Rohan Shah
Glucocorticoid remediable aldosteronism (GRA) is rare familial form of primary aldosteronism characterized by a normalization of hypertension with the administration of glucocorticoids. We present a case of GRA and thoracoabdominal aneurysm complicated by multiple aortic dissections requiring complex surgical and endovascular repairs. Registry studies have shown a high rate of intracranial aneurysms in GRA patients with high case fatality rates. The association of thoracoabdominal aneurysms with GRA has not been described, thus far, in literature...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27340576/recurrent-thyrotoxicosis-due-to-both-graves-disease-and-hashimoto-s-thyroiditis-in-the-same-three-patients
#16
Ashley Schaffer, Vidya Puthenpura, Ian Marshall
Hashimoto's thyroiditis (HT) and Graves' disease (GD) are the 2 most common autoimmune disease processes affecting the thyroid gland. The relationship between the two is complex and not clearly understood. It has been theorized that HT and GD are 2 separate disease processes due to unique genetic differences demonstrated by genome studies. On the other hand, based on occurrence of both HT and GD in monozygotic twins and within the same family, they have been regarded to represent 2 ends of the same spectrum...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27293919/levothyroxine-tablet-malabsorption-associated-with-gastroparesis-corrected-with-gelatin-capsule-formulation
#17
David P Reardon, Peter S Yoo
Treatment of hypothyroidism with levothyroxine sodium often requires multiple dose adjustments and can be complicated by patients with gastric and intestinal dysfunction that limits absorption. In these cases, doses are often titrated higher than commonly used in clinical practice. Multiple formulations of levothyroxine are currently available and some may be preferred in cases of malabsorption. We report a case of a 42-year-old female who presented with a living unrelated kidney transplant evaluation with myxedema while being treated with levothyroxine sodium tablets...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27242936/cerebral-malaria-an-unusual-cause-of-central-diabetes-insipidus
#18
Resmi Premji, Nira Roopnarinesingh, Joshua Cohen, Sabyasachi Sen
Central diabetes insipidus is an uncommon feature of malaria. A previously healthy 72-year-old man presented with fever, rigors, and altered mental status after a recent trip to Liberia, a country known for endemic falciparum malaria. Investigations confirmed plasmodium falciparum parasitemia. Within one week after admission, the serum sodium rose to 166 mEq/L and the urine output increased to 7 liters/day. Other labs were notable for a high serum osmolality, low urine osmolality, and low urine specific gravity...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27213061/panhypopituitarism-due-to-absence-of-the-pituitary-stalk-a-rare-aetiology-of-liver-cirrhosis
#19
Marta Gonzalez Rozas, Lidia Hernanz Roman, Diego Gonzalez Gonzalez, José Luis Pérez-Castrillón
Studies have established a relationship between hypothalamic-pituitary dysfunction and the onset of liver damage, which may occasionally progress to cirrhosis. Patients with hypopituitarism can develop a metabolic syndrome-like phenotype. Insulin resistance is the main pathophysiological axis of metabolic syndrome and is the causal factor in the development of nonalcoholic fatty liver disease (NAFLD). We present the case of a young patient with liver cirrhosis of unknown aetiology that was finally attributed to panhypopituitarism...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27195157/gigantomastia-and-macroprolactinemia-responding-to-cabergoline-treatment-a-case-report-and-minireview-of-the-literature
#20
Fatma Dilek Dellal, Didem Ozdemir, Cevdet Aydin, Gulfem Kaya, Reyhan Ersoy, Bekir Cakir
Background. Macroprolactinemia is defined as predominance of high molecular weight prolactin forms in the circulation. Although macroprolactin is considered as a biologically inactive molecule, some authorities suggest treatment in symptomatic cases. Gigantomastia is defined as excess breast tissue and most cases in the literature were treated by surgical intervention. Case. A 44-year-old woman was admitted to our clinic with gigantomastia and galactorrhea. The patient had a demand for surgical therapy. In laboratory examination, she had hyperprolactinemia and macroprolactinemia...
2016: Case Reports in Endocrinology
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