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Case Reports in Endocrinology

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https://www.readbyqxmd.com/read/28168064/hypercalcemia-of-malignancy-in-thymic-carcinoma-evolving-mechanisms-of-hypercalcemia-and-targeted-therapies
#1
Cheng Cheng, Jose Kuzhively, Sanford Baim
Here we describe, to our knowledge, the first case where an evolution of mechanisms responsible for hypercalcemia occurred in undifferentiated thymic carcinoma and discuss specific management strategies for hypercalcemia of malignancy (HCM). Case Description. We report a 26-year-old male with newly diagnosed undifferentiated thymic carcinoma associated with HCM. Osteolytic metastasis-related hypercalcemia was presumed to be the etiology of hypercalcemia that responded to intravenous hydration and bisphosphonate therapy...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28163940/asymptomatic-congenital-hyperinsulinism-due-to-a-glucokinase-activating-mutation-treated-as-adrenal-insufficiency-for-twelve-years
#2
Kae Morishita, Chika Kyo, Takako Yonemoto, Rieko Kosugi, Tatsuo Ogawa, Tatsuhide Inoue
Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was diagnosed with CHI. Heterozygosity of exon 6 c.590T>C (p.M197T) was identified in a gene analysis of GCK, which was also detected in her son and herself...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28163939/isolated-liver-metastasis-in-h%C3%A3-rthle-cell-thyroid-cancer-treated-with-microwave-ablation
#3
Konstantinos Segkos, Carl Schmidt, Fadi Nabhan
Hürthle cell thyroid cancer (HCTC) is a less common form of differentiated thyroid cancer. It rarely metastasizes to the liver, and when it does, the metastasis is almost never isolated. Here we report a 62-year-old male with widely invasive Hürthle cell thyroid cancer, who underwent total thyroidectomy and received adjuvant treatment with I-131 with posttreatment scan showing no evidence of metastatic disease. His thyroglobulin however continued to rise after that and eventually an isolated liver metastasis was identified...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28133554/horner-syndrome-secondary-to-thyroid-surgery
#4
Meliha Demiral, Ciğdem Binay, Enver Simsek, Hüseyin Ilhan
Horner syndrome (HS), caused by an interruption in the oculosympathetic pathway, is characterised by myosis, ipsilateral blepharoptosis, enophthalmos, facial anhydrosis, and vascular dilation of the lateral part of the face. HS is a rare complication of thyroidectomy. A 15-year-old female patient presented with solitary solid and large nodule in the right thyroid lobe. Ultrasound-guided fine-needle aspiration was performed and the cytological examination results were undefined. The patient underwent a total thyroidectomy...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28127476/vasopressin-bolus-protocol-compared-to-desmopressin-ddavp-for-managing-acute-postoperative-central-diabetes-insipidus-and-hypovolemic-shock
#5
Anukrati Shukla, Syeda Alqadri, Ashley Ausmus, Robert Bell, Premkumar Nattanmai, Christopher R Newey
Introduction. Management of postoperative central diabetes insipidus (DI) can be challenging from changes in volume status and serum sodium levels. We report a case successfully using a dilute vasopressin bolus protocol in managing hypovolemic shock in acute, postoperative, central DI. Case Report. Patient presented after bifrontal decompressive craniotomy for severe traumatic brain injury. He developed increased urine output resulting in hypovolemia and hypernatremia. He was resuscitated with intravenous fluids including a dilute vasopressin bolus protocol...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28116181/artifactual-hypoglycaemia-in-systemic-sclerosis-and-raynaud-s-phenomenon-a-clinical-case-report-and-short-review
#6
R H Bishay, A Suryawanshi
Background. Artifactual hypoglycaemia, defined as a discrepancy between glucometer (capillary) and plasma glucose levels, may lead to overtreatment and costly investigations. It is not infrequently observed in patients with Raynaud's phenomenon due to vascular capillary distortion, yet this is clinically underappreciated. Case Report. We report a 76-year-old woman with systemic sclerosis and Raynaud's phenomenon, who presented with upper gastrointestinal bleeding and found to have concomitant persistent hypoglycaemia (1...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28044111/nodular-lymphocyte-predominant-hodgkin-lymphoma-of-the-thyroid
#7
Carlos Tavares Bello, João Cassis, Helder Simões, João Sequeira Duarte
Thyroid lymphomas are rare clinical entities that may result from either the primary intrathyroid de novo or secondary thyroid gland involvement of a lymphoma. Among these, the Hodgkin's subtype is quite uncommon, accounting for 0.6-5% of all thyroid malignancies. The authors report on a 76-year-old female presenting with a thyroid nodule that, upon surgical excision, was found to be a nodular lymphocyte predominant Hodgkin lymphoma of the thyroid. So far, thyroid involvement by this variant has never been reported...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28044110/unusual-cushing-s-syndrome-and-hypercalcitoninaemia-due-to-a-small-cell-prostate-carcinoma
#8
Antonio Balestrieri, Elena Magnani, Fiorella Nuzzo
A 75-year-old man was hospitalized because of severe hypokalaemia due to ACTH dependent Cushing's syndrome. Total body computed tomography (TBCT) and 68 Gallium DOTATATE PET/CT localized a voluminous prostate tumour. A subsequent transurethral prostate biopsy documented a small cell carcinoma positive for ACTH and calcitonin and negative for prostatic specific antigen (PSA) at immunocytochemical study; serum prostatic specific antigen (PSA) was normal. Despite medical treatments, Cushing's syndrome was not controlled and the patient's clinical condition progressively worsened...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28044109/a-33-year-old-man-with-gynaecomastia-and-galactorrhea-as-the-first-symptoms-of-graves-hyperthyroidism
#9
Somdul Khoohaphatthanakul, Apiradee Sriwijitkamol
Graves' hyperthyroidism has a various number of well-recognized manifestations. Galactorrhea is a rare manifestation in this disease. We describe a 33-year-old man who presented with the symptoms of hyperthyroidism, gynaecomastia, and galactorrhea for 2 months. Physical examination revealed goitre, gynaecomastia, and galactorrhea, bilaterally. Laboratory investigations demonstrated high free thyroxine with suppressed thyroid-stimulating hormone level together with elevated anti-TSH receptor; therefore, the diagnosis of Graves' disease was confirmed...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28025627/patients-with-acromegaly-presenting-with-colon-cancer-a-case-series
#10
Murray B Gordon, Samer Nakhle, William H Ludlam
Introduction. Frequent colonoscopy screenings are critical for early diagnosis of colon cancer in patients with acromegaly. Case Presentations. We performed a retrospective analysis of the incidental diagnoses of colon cancer from the ACCESS trial (ClinicalTrials.gov identifier: NCT01995734). Colon cancer was identified in 2 patients (4.5%). Case  1 patient was a 36-year-old male with acromegaly who underwent transsphenoidal surgery to remove the pituitary adenoma. After surgery, the patient underwent routine colonoscopy screening, which revealed a 40 mm tubular adenoma in the descending colon...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28018684/a-large-isolated-hydatid-cyst-of-the-adrenal-gland-a-case-report-and-review-of-the-literature
#11
Fatehi Elnour Elzein, Abdullah Aljaberi, Abdullah AlFiaar, Abdullah Alghamdi
A 44-year-old patient presented with two-year history of (R) lumbar pain. There was a strong history of childhood animals' contact, including dogs. A brother had multiple hydatid cysts requiring surgery. Initial ultrasound showed a large (R) adrenal mass measuring 10 × 9 × 8 cm. Subsequent CT scan confirmed a heavily calcified cyst in the (R) adrenal gland. Hormonal studies were normal. He had an uneventful course following a total adrenalectomy. Isolated adrenal hydatid is extremely rare with an incidence of less than 0...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27957353/short-term-pth-1-34-therapy-in-children-to-correct-severe-hypocalcemia-and-hyperphosphatemia-due-to-hypoparathyroidism-two-case-studies
#12
Pooja E Mishra, Betsy L Schwartz, Kyriakie Sarafoglou, Kristen Hook, Youngki Kim, Anna Petryk
The standard treatment of hypoparathyroidism is to control hypocalcemia using calcitriol and calcium supplementation. However, in severe cases this approach is insufficient, and the risks of intravenous (i.v.) calcium administration and prolonged hospitalization must be considered. While the use of recombinant human parathyroid hormone 1-34 [rhPTH(1-34)] for long-term control of hypocalcemia has been established, the benefits of short-term rhPTH(1-34) treatment in children have not been explored. We report two patients with hypoparathyroidism treated with rhPTH(1-34)...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27957352/nonislet-cell-tumor-hypoglycemia-in-a-patient-with-adrenal-cortical-carcinoma
#13
Se Won Kim, Seung-Eun Lee, Young Lyun Oh, Seokhwi Kim, Sun Hee Park, Jae Hyeon Kim
Nonislet cell tumor hypoglycemia (NICTH) is a rare but serious paraneoplastic syndrome in which a tumor secretes incompletely processed precursors of insulin-like growth factor-II (IGF-II), causing hypoglycemia. Here, we report an exceptional case of NICTH caused by nonfunctioning adrenocortical carcinoma in a 39-year-old male with recurrent hypoglycemia. The patient's serum IGF-II/IGF-I ratio had increased to 27.8. The serum level of the IGF-II/IGF-I ratio was normalized after removal of the tumor, and the hypoglycemic attacks no longer occurred after the operation...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27957351/the-biochemical-profile-of-familial-hypocalciuric-hypercalcemia-and-primary-hyperparathyroidism-during-pregnancy-and-lactation-two-case-reports-and-review-of-the-literature
#14
S A Ghaznavi, N M A Saad, L E Donovan
Background. Primary hyperparathyroidism (PHPT) and Familial Hypocalciuric Hypercalcemia (FHH) result in different maternal and fetal complications in pregnancy. Calcium to creatinine clearance ratio (CCCR) is commonly used to help distinguish these two conditions. Physiological changes in calcium handling during pregnancy and lactation can alter CCCR, making it a less useful tool to distinguish PHPT from FHH. Cases. A 25-year-old female presented with hypercalcemia and an inappropriately normal PTH. Her CCCR was 0...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27847655/surgical-management-of-life-threatening-thyroid-haematoma-following-occult-blunt-neck-trauma
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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