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Case Rep Endocrinol 2019 17;2019:7964126. Epub 2019 Mar 17.

Division of Endocrinology, Diabetes & Metabolism, University of Illinois at Chicago, Chicago, IL, USA.

Objective: To present a rare case of malignant struma ovarii (MSO) and synchronous thyroid cancer, review the medical literature, and present the latest trends in management.

Methods: The case of a woman with MSO and concomitant thyroid cancer is presented, including clinical presentation, treatment, and follow-up care. A search of the English-language literature was conducted using MEDLINE and Google Scholar data bases. Read More

Case Rep Endocrinol 2019 12;2019:4038628. Epub 2019 Mar 12.

Recep Tayyip Erdoğan University School of Medicine, Department of Pathology, Turkey.

Aim: Papillary thyroid carcinoma (PTC) and medullary thyroid carcinoma (MTC) are two different types of thyroid carcinoma with significant different clinical and histological findings. Their coexistence in the same patient is a very rare event which demands different clinical approach.

Case Report: We report a case with concurrent MTC and PTC in the same thyroid having characteristics of a collision tumour. Read More

Case Rep Endocrinol 2019 4;2019:8917519. Epub 2019 Mar 4.

Division of Endocrinology, Diabetes and Metabolism, University of Cincinnati, 231 Albert Sabin Way, Cincinnati, OH 45267-0542, USA.

We describe a presentation of Autosomal Dominant Hypophosphatemic Rickets (ADHR) in a 22-year-old female with normal pubertal growth and development and a negative family history in first-degree relatives. The patient presented with a 2-year history of upper and lower extremity proximal muscle pain and weakness and bilateral femoral neck and pubic bone insufficiency fractures. She had a normal serum calcium but a low phosphate as well as 25-hydroxyvitamin D (25(OH)D) levels leading initially to a diagnosis of osteomalacia. Read More

Case Rep Endocrinol 2019 13;2019:9468252. Epub 2019 Feb 13.

Department of Clinical Biochemistry, Copenhagen University Hospital Hvidovre, Denmark.

Heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene are known to cause familial hypocalciuric hypercalcemia (FHH), usually a benign form of hypercalcemia without symptoms of a disrupted calcium homeostasis. FHH can be mistaken for the more common primary hyperparathyroidism (PHPT), for which surgical treatment may be needed. We describe a case of a 36-year-old woman with hypercalcemia and elevated PTH, initially suspected of having PHPT. Read More

Case Rep Endocrinol 2019 14;2019:9415347. Epub 2019 Feb 14.

Clinical Research Center, Department of Medicine, International University of Health and Welfare, Tochigi, Japan.

A 66-year-old Japanese male presented with thirst, polyuria, and hemoglobin A1c and postprandial glucose levels (13.1% and 529 mg/dL, respectively) that indicated severe hyperglycemia. Based on his high immunoglobulin G4 level and the results of magnetic resonance imaging and magnetic resonance cholangiopancreatography, we diagnosed him with autoimmune pancreatitis. Read More

Case Rep Endocrinol 2019 14;2019:7640384. Epub 2019 Feb 14.

Department of Internal, General Hospital of Mexico 'Dr. Eduardo Liceaga', Mexico City, Mexico.

Context: Nesidioblastosis is a rare cause of hyperinsulinemic hypoglycemia in adults. The diagnosis is further complicated in patients with kidney failure, since impaired renal function can cause hypoglycemia by itself and diagnostic criteria for this clinical scenario have not been developed yet.

Case Description: We present the case report of a 36-year-old patient with end stage chronic kidney disease who presented to the emergency department because of hypoglycemia. Read More

Case Rep Endocrinol 2019 10;2019:6809479. Epub 2019 Feb 10.

University of Washington, Department of Medicine, Seattle, WA, USA.

Turner syndrome (TS), i.e., mosaic or nonmosaic states with only one normal X chromosome in females, is characterized by a wide spectrum of somatic, hormonal, and metabolic features. Read More

Case Rep Endocrinol 2019 5;2019:5986014. Epub 2019 Feb 5.

Department of Molecular Endocrinology and Metabolism, Graduate School of Medical and Dental Science, Tokyo Medical and Dental University, 113-8510, Japan.

Refractory hypothyroidism is caused by decreased gut absorption, increased metabolism, and poor compliance. Previous studies suggested that the weekly oral, suppository, or intramuscular administration of levothyroxine (LT4) is an effective treatment for refractory hypothyroidism. However, limited information is currently available on treatment involving the weekly intravenous administration of LT4. Read More

Case Rep Endocrinol 2019 20;2019:1482727. Epub 2019 Jan 20.

University of Oklahoma College of Pharmacy, Pediatric Department, University of Oklahoma School of Community Medicine, Tulsa, 4502 E. 41 St, Tulsa, OK 74135, 918-660-3578, USA.

Globally, there has been increasing attention paid to vitamin D deficiency and its treatment. Vitamin D stosstherapy with high-dose ergocalciferol in a single day is reemerging as a potential treatment option. We present an as yet unreported complication of acute renal injury due to propylene glycol toxicity in a 7-month infant treated with vitamin D stosstherapy. Read More

Case Rep Endocrinol 2019 15;2019:4825357. Epub 2019 Jan 15.

Regenerative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, 13200 Kepala Batas, Pulau Pinang, Malaysia.

Macroprolactinoma has the potential to cause base of skull erosion and often extends into the sphenoid sinus. Rapid shrinkage of this invasive tumor following dopamine agonist therapy has been postulated to cause unplugging of the eroded area, leading to cerebrospinal fluid leakage. To the best of our knowledge, the occurrence of spontaneous cerebrospinal fluid leak in treatment-naive prolactinomas is very rare, the majority of which involve undiagnosed macroprolactinomas. Read More

Case Rep Endocrinol 2019 9;2019:8456239. Epub 2019 Jan 9.

Department of Health Sciences, University of Genoa; Medical Genetics Unit, Galliera Hospital, Genoa, Italy.

Pseudohypoparathyroidism type 1A (PHP1A) is usually diagnosed in childhood or early adulthood. We describe the case of a 64-year-old woman admitted to the Neurological Unit for recurrent episodes of loss of consciousness and seizures. Glycemia and ECG were normal, while hypocalcemia was noted. Read More

Case Rep Endocrinol 2019 6;2019:8974619. Epub 2019 Jan 6.

Department of Endocrinology, Diabetes, Metabolic Diseases and Nutrition, Mohammed VI University Hospital, Marrakech, Morocco.

Diabetic ketoacidosis (DKA) is a life-threatening acute metabolic complication occurring in patients with diabetes, especially in patients with type 1 diabetes (T1D), due to an insulin deficiency. Moderate hypertriglyceridemia is commonly observed in DKA but severe hypertriglyceridemia with a triglyceride level exceeding 10g/L is very rarely reported. We report a case of a 14-year-old boy who had type 1 diabetes for 4 years treated with insulin therapy, also having adrenal insufficiency treated with hydrocortisone who presented with ketoacidosis and excruciating abdominal pain. Read More

Case Rep Endocrinol 2019 2;2019:6058076. Epub 2019 Jan 2.

Department of Medicine, Veterans Affairs Greater Los Angeles Healthcare System and Division of Endocrinology, Departments of Medicine and Physiology, UCLA David Geffen School of Medicine, 11301 Wilshire Boulevard, Los Angeles, CA 90073, USA.

We present the case of a 71-year-old man with longstanding, previously well-controlled type 1 diabetes who developed acute hyperglycemia. His insulin requirements, via his insulin pump, increased to nearly five times his typical daily dose. The patient was admitted for evaluation and treatment and started on an insulin infusion. Read More

Case Rep Endocrinol 2018 31;2018:4081769. Epub 2018 Dec 31.

Okamoto Thyroid Clinic, Asahi-ku, Osaka 535-0031, Japan.

A 31-year-old Japanese male patient with a history of atrial fibrillation showed elevated serum levels of free thyroxine and triiodothyronine and a normal level of thyrotropin. The same abnormal hormone pattern was also found in his son. These data indicated that the index patient and the son have thyroid hormone resistance syndrome. Read More

Case Rep Endocrinol 2018 31;2018:3652602. Epub 2018 Dec 31.

Department of Endocrinology, West Virginia University, Morgantown, WV, USA.

Context: To describe a case of invasive ductal carcinoma of the breast in a transgender male receiving testosterone therapy for gender-affirming treatment.

Case Description: A 28-year-old transgender male receiving intramuscular testosterone was found to have a breast mass on ultrasound after self-exam revealed a palpable breast lump. Ultrasound-guided breast biopsy revealed estrogen receptor/progesterone receptor (ER/PR) negative, human epidermal growth factor receptor-2 (HER-2) positive, invasive ductal carcinoma of the left breast. Read More

Case Rep Endocrinol 2018 19;2018:9564737. Epub 2018 Dec 19.

Pediatric Endocrinology Unit, Department of Pediatrics, Centro Materno Infantil do Norte-Centro Hospitalar Universitário do Porto, Oporto, Portugal.

Fetal goiter is a rare disorder not expected to be found during a healthy woman's pregnancy. It can be a prenatal manifestation of congenital hypothyroidism due to thyroid dyshormonogenesis and it can lead to serious perinatal complications. A vascularized fetal neck mass was detected at 29 weeks' gestation of a healthy primigravida. Read More

Case Rep Endocrinol 2018 17;2018:4328954. Epub 2018 Dec 17.

Advocate Lutheran General Hospital, Park Ridge, IL, USA.

Isoproterenol is known to cause insulin resistance and is often used to treat bradyarrhythmias from atrioventricular block. We report a case of isoproterenol induced diabetic ketoacidosis in a 77-year-old female patient treated with isoproterenol for atrioventricular block prior to insertion of permanent pacemaker. Diabetic ketoacidosis (DKA) developed within hours of starting an isoproterenol drip, and there were no other precipitating factors at that time. Read More

Case Rep Endocrinol 2018 17;2018:3796415. Epub 2018 Dec 17.

Department of Endocrinology Paediatrics, Medical School, Mohammed V University, Hôpital d'Enfants, 10 000 Rabat, Morocco.

Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). Read More

Case Rep Endocrinol 2018 17;2018:1746917. Epub 2018 Dec 17.

Section of Medicine, Endocrinology, Department of Diabetes and Metabolism, San Juan City Hospital, San Juan, Puerto Rico, USA.

We report the case of a 34-year-old male Hispanic patient who presented with an 8-month history of polyuria and decreased libido. An evaluation revealed hypopituitarism, central diabetes insipidus, and a pituitary stalk lesion. No evidence of a neoplasm or an inflammatory/infiltrative disease was found. Read More

Case Rep Endocrinol 2018 5;2018:8154513. Epub 2018 Dec 5.

Division Director, Department of Endocrinology, Berkshire Medical Center, Pittsfield, MA, USA.

Androgen-secreting ovarian neoplasms are rare ovarian tumors that present with hirsutism and virilization which may manifest as severe alopecia, deepening of voice, and clitoromegaly. Most often, ovarian tumors are found to be very small or even undetectable. In such cases, bilateral salpingo-oophorectomy should be performed after ruling out other causes of high androgens. Read More

Case Rep Endocrinol 2018 5;2018:2019235. Epub 2018 Dec 5.

Division of Endocrinology and Metabolism, Center for Osteoporosis and Metabolic Bone Diseases, University of Arkansas for Medical Sciences and the Central Arkansas Veterans Health Care System, Little Rock, AR 72205, USA.

Thyroid cancer recurrence can occur decades after initial diagnosis despite excellent response to therapy. Thyroid cancer recurrence is evaluated using serum thyroglobulin (Tg) and imaging studies including I-131 WBS and neck ultrasound. Limitations in Tg measurement and WBS may result in failure to detect recurrence. Read More

Case Rep Endocrinol 2018 28;2018:7658496. Epub 2018 Nov 28.

Rutgers-Robert Wood Johnson Medical School, Division of Pediatric Endocrinology, 1 Robert Wood Johnson Place, New Brunswick, NJ 08901, USA.

Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B. Biallelic loss-of-function mutations in the gene, which encodes this receptor, cause acromesomelic dysplasia, Maroteaux type (AMDM), a skeletal dysplasia characterized by severe short stature and disproportionate shortening of limbs. Heterozygous mutations have been reported in patients previously classified with idiopathic short stature (ISS). Read More

Case Rep Endocrinol 2018 27;2018:8316017. Epub 2018 Nov 27.

Department of Endocrinology, Rafic El Hariri University Hospital, Beirut, Lebanon.

The objective of this study is to report a case of severe hypocalcemia secondary to hypoparathyroidism in a pregnant woman. We report a case of a 45-year-old woman who presented for tonico-clonic seizure in the third trimester of gestation. She was diagnosed with idiopathic hypoparathyroidism for the first time during pregnancy. Read More

Case Rep Endocrinol 2018 22;2018:2359205. Epub 2018 Nov 22.

Pediatric Endocrinology, Rhode Island Hospital/The Warren Alpert Medical School of Brown University, 111 Plain Street, 3rd Floor, Providence, RI 02903, USA.

Introduction: Thyroid hormone is known to accelerate glucocorticoid turnover. In a thyrotoxic state, individuals with adrenal insufficiency are unable to increase endogenous cortisol production to compensate for increased turnover, placing them at risk for symptoms of glucocorticoid deficiency and adrenal crisis. In patients with salt-wasting congenital adrenal hyperplasia (SW-CAH), hyperandrogenemia is a measurable reflection of relative glucocorticoid insufficiency. Read More

Case Rep Endocrinol 2018 12;2018:4369531. Epub 2018 Nov 12.

Department of Endocrinology, La Rabta hospital, Faculty of Medicine, University of Tunis El Manar, Tunis, Tunisia.

Thyroid involvement with tuberculosis is an uncommon condition even in endemic countries. As its clinical presentation is not specific, diagnosis is often difficult and requires histopathological confirmation. Herein we report an observation of secondary tuberculosis of the thyroid gland in a woman with a type 2 diabetes mellitus and a primary hypothyroidism. Read More

Case Rep Endocrinol 2018 11;2018:7842792. Epub 2018 Nov 11.

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

The occurrence of renal tumors originating from thyroid cancer is extremely rare with a few effective treatments for renal metastases. Here, we report the cases of two patients with differentiated thyroid cancer who underwent nephrectomy for a metastatic kidney tumor. Case 1 was a 74-year-old man who was diagnosed with right kidney tumor 10 years after initial surgery for papillary thyroid cancer (PTC). Read More

Case Rep Endocrinol 2018 30;2018:3210317. Epub 2018 Oct 30.

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

Subacute thyroiditis is an inflammatory disorder of the thyroid. Graves' disease is an autoimmune thyroid disease in which thyroid hormones are overproduced. Here we present a rare case of thyrotoxicosis due to the simultaneous occurrence of both diseases. Read More

Case Rep Endocrinol 2018 25;2018:5041724. Epub 2018 Oct 25.

Monmouth Medical Center, Long Branch, NJ 07740, USA.

An 80-year-old Caucasian male presented with fever of 3-week duration. Outpatient workup for infectious etiologies was negative and due to persistent fever, he was hospitalized for further evaluation of fever of unknown origin (FUO). Physical examination and laboratory studies remained unremarkable; however a follow-up CT scan of chest, abdomen, and pelvis with contrast done to rule out malignancy as an underlying cause of FUO revealed heterogeneous thyroid gland with surrounding hazy changes suggestive of thyroiditis. Read More

Case Rep Endocrinol 2018 24;2018:4748750. Epub 2018 Oct 24.

Division of Endocrinology, Department of Pediatrics, C.S. Mott Children's Hospital, Michigan Medicine, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

In a seminal report, a 17-year-old boy with panhypopituitarism had fatty liver (FL) amelioration with growth hormone (GH). By extension, since hepatic insulin resistance (IR) is key to FL and type 2 diabetes mellitus (T2DM), GH then may ameliorate the IR of T2DM. We present a 17-year-old nonobese female with untreated childhood onset growth hormone deficiency (CO-GHD) who developed type 2 diabetes mellitus (T2DM) and steatohepatitis with bridging fibrosis. Read More

Case Rep Endocrinol 2018 24;2018:3268010. Epub 2018 Oct 24.

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

The coexistence of thyroid functioning nodules and Graves' disease is called Marine-Lenhart syndrome. This condition is estimated to occur in 0.8-2. Read More

Case Rep Endocrinol 2018 18;2018:5198297. Epub 2018 Oct 18.

Radiologist, National Defence University of Malaysia, Malaysia.

Papillary thyroid carcinoma is the most common thyroid malignancy and frequently metastasizes to regional lymph nodes. Occasionally, metastatic lymph nodes are palpable without the evidence of primary tumour. Papillary thyroid carcinoma of lateral neck cyst is a rare condition. Read More

Case Rep Endocrinol 2018 14;2018:6358485. Epub 2018 Oct 14.

Einstein Medical Center, 5501 Old York Rd., Philadelphia, PA 19141, USA.

Background: Pheochromocytoma/paraganglioma is a rare tumor from neuroendocrine cells. 1/3 of cases have germline mutations. Papillary thyroid carcinoma (PTC) is a common neoplasm from follicular cells of the thyroid. Read More

Case Rep Endocrinol 2018 2;2018:4283267. Epub 2018 Oct 2.

Division of Pediatric Endocrinology and Diabetes, Rhode Island Hospital/Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, 111 Plain St, 3rd Floor, Providence, RI 02903, USA.

Kleefstra syndrome is a genetic condition characterized by intellectual disability, childhood hypotonia, and facial dysmorphisms. Genital anomalies such as micropenis, cryptorchidism, and hypospadias have been reported in 30-40% of males diagnosed with the disease. However, endocrinological investigations have been limited. Read More

Case Rep Endocrinol 2018 25;2018:2091257. Epub 2018 Sep 25.

Department of Biomedical Sciences for Health, Università degli Studi di Milano, Milan, Italy.

Studies on genome-wide transcription patterns have shown that many genetic alterations implicated in pheochromocytoma-paraganglioma (P-PGL) syndromes cluster in a common cellular pathway leading to aberrant activation of molecular response to hypoxia in normoxic conditions (the pseudohypoxia hypothesis). Several cases of P-PGL have been reported in patients with cyanotic congenital heart disease (CCHD). Patients affected with CCHD have an increased likelihood of P-PGL compared to those affected with noncyanotic congenital heart disease. Read More

Case Rep Endocrinol 2018 25;2018:8270936. Epub 2018 Sep 25.

Department of Endocrinology, Diabetes and Metabolism, State University of New York, Buffalo, New York, USA.

We report the case of a 54-year-old Caucasian female who presented with a two-year history of persistent hypocalcemia requiring multiple hospitalizations. Her medical history was significant for HIV diagnosed four years ago. She denied any history of prior neck surgery or radiation. Read More

Case Rep Endocrinol 2018 5;2018:6147349. Epub 2018 Sep 5.

Endocrinology Consultants of East Tennessee, 1450 Dowell Springs Blvd., Suite 300, Knoxville, TN 37909, USA.

A case report is presented in which a type-II diabetic patient significantly improved his dysfunctional -islet cells using a combination of a strenuous exercise program, cyclical ketogenic diet, and oral GABA/probiotic supplementation. The patient was diagnosed with type-II diabetes at the age of 41 which then progressed through a typical series of treatment changes over 14 years. Treatment periods consisted of metformin therapy alone for 4 years followed by a metformin/glyburide combination therapy for 6 years, and eventually an insulin/metformin combination therapy for 4 years. Read More

Case Rep Endocrinol 2018 14;2018:2875074. Epub 2018 Aug 14.

Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK.

Multiple endocrine neoplasia (MEN) type 1 syndrome is an autosomal dominant disorder caused by germline mutations in gene, characterized by tumours in endocrine and nonendocrine organs. Giant prolactinoma is defined as tumours larger than 40mm with very high prolactin secretion. We report two unrelated Sri Lankan patients (8-year-old boy and a 20-year-old female) who presented with giant prolactinomas with mass effects of the tumours. Read More

Case Rep Endocrinol 2018 6;2018:5493917. Epub 2018 Aug 6.

Section of Endocrinology, Reading Hospital, Reading, PA, 19611, USA.

Primary hyperparathyroidism in pregnancy can result in significant maternal and fetal complications. When indicated, prompt parathyroidectomy in the early second trimester is considered the treatment of choice. Pregnant patients with primary hyperparathyroidism who have an indication for parathyroidectomy during the first trimester represent a therapeutic challenge. Read More

Case Rep Endocrinol 2018 7;2018:6450563. Epub 2018 Aug 7.

Western Michigan University Homer Stryker M.D. School of Medicine, USA.

Sodium-glucose cotransporter 2 (SGLT-2) inhibitors are a class of medications used for glycemic control in type II diabetes mellitus. Their mechanism of action involves preventing resorption of glucose at the proximal kidney, thereby promoting glucosuria and weight loss. However, they have also been found to be associated with euglycemic diabetic ketoacidosis (euDKA). Read More

Case Rep Endocrinol 2018 9;2018:5747969. Epub 2018 Aug 9.

Department of Nuclear Medicine, Academic Teaching Hospital Feldkirch, Feldkirch, Austria.

Graves' disease (GD) and thrombotic thrombocytopenic purpura (TTP) are autoimmune diseases caused by autoantibodies against the TSH receptor (TRAb) and the enzyme ADAMTS13. We here report on two patients with concurrent GD and TTP, who achieved sustained remission of both conditions with the TTP treatment regimen and thiamazole. Both patients suffered from relapsing TTP and were diagnosed with GD concomitantly at the time of relapse. Read More

Case Rep Endocrinol 2018 12;2018:1723695. Epub 2018 Aug 12.

Cleveland Clinic, Department of Endocrinology and Metabolism, Cleveland, OH, USA.

Objective: Diabetes mellitus is associated with microvascular and macrovascular complications; the most commonly recognized ones include diabetic nephropathy, retinopathy, and neuropathy. Less well-known complications are equally important, as timely recognition and treatment are essential to decrease short- and long-term morbidity.

Methods: Herein, we describe a case of a 41-year-old female with longstanding, uncontrolled type 2 diabetes, who presented with classical findings of diabetic myonecrosis. Read More

Case Rep Endocrinol 2018 26;2018:7676580. Epub 2018 Jul 26.

Department of Internal Medicine, Wonju Severance Christian Hospital, Yonsei University Wonju College of Medicine, Wonju, Republic of Korea.

Purpose: We report a rare case of severe hypercalcemia that was ultimately diagnosed as primary bone marrow diffuse large B-cell lymphoma (BCL).

Case Report: A 74-year-old male patient visited our hospital complaining of tenderness and swelling of the left knee caused by supracondylar fracture of the left distal femur. His initial blood tests showed a serum calcium level of 13. Read More

Case Rep Endocrinol 2018 18;2018:7048610. Epub 2018 Jul 18.

Division of Endocrinology, Diabetes, and Bone Disease, Icahn School of Medicine at Mount Sinai, Mount Sinai Beth Israel, New York, NY, USA.

The hypothalamic-pituitary-adrenal (HPA) axis and the hypothalamic-pituitary-gonadal (HPG) axis are very sensitive and can be affected by external factors like stress, starvation, and medication. Medication-induced suppression of these axes can cause adrenal insufficiency (AI) and hypogonadism. Exogenous glucocorticoid use is the most common cause of iatrogenic AI. Read More

Case Rep Endocrinol 2018 16;2018:4806598. Epub 2018 Jul 16.

Department of Internal Medicine, St. Joseph's University Medical Center-New York Medical College, USA.

Diabetic Ketoacidosis commonly presents with hyponatremia, but hypernatremia is a rare entity. We report a unique case of a 50-year-old woman admitted with altered sensorium with blood glucose 979 milligrams/deciliter, serum osmolarity 363 mOsm/kilograms, and serum sodium 144 milliequivalents/liter. Patient was given initial bolus of isotonic saline and continued on half isotonic saline for correction of hypernatremia along with insulin infusion therapy. Read More

Case Rep Endocrinol 2018 15;2018:4073536. Epub 2018 Jul 15.

Division of General Surgery, McGill University Health Centre, Montréal, QC, Canada.

Pheochromocytomas are rare adrenal neoplasms characterized by excess secretion of catecholamines. We describe the case of a 65-year-old man, known for hypertension, with no family history of hereditary pheochromocytoma syndromes. He reported a two-year history of flushing, systolic blood pressure surges to 200 mmHg, headaches, tremors, and syncope. Read More

Case Rep Endocrinol 2018 14;2018:2403430. Epub 2018 Mar 14.

Department of Medical Genetics, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Turkey.

Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and corticotropes. We performed genetic analysis of PROP1 gene in a Turkish pedigree with three siblings who presented with short stature. Read More

Case Rep Endocrinol 2018 16;2018:9329035. Epub 2018 Jul 16.

New York Head & Neck Institute, Lenox Hill Hospital, New York, NY, USA.

Hürthle cell predominant thyroid nodules often confound the diagnostic utility of fine needle aspiration biopsy (FNAB) with cytology often interpreted as a Hürthle cell lesion with an indeterminate risk of malignancy, Bethesda category (BC) III or IV. Molecular diagnostics for Hürthle cell predominant nodules has also been disappointing in further defining the risk of malignancy. We present a case of a slowly enlarging nodule within a goiter initially reported as benign on FNAB, BC II but on subsequent FNAB suspicious for a Hürthle cell neoplasm, BC IV. Read More

Case Rep Endocrinol 2018 19;2018:9014585. Epub 2018 Jul 19.

Colombo South Teaching Hospital, Kalubowila, Sri Lanka.

A 34-year-old mother with diabetes mellitus for 6 years presented in the late second trimester of her third pregnancy with new onset hypertension and characteristic hyperadrenergic spells. Clinical examination was unremarkable except a blood pressure of 170/110 mmhg. She had an elevated 24 hour urinary normetanephrine level with ultrasonic evidence of a hyperechoic hypervascular well-defined right supra renal mass of 6 x 5 cm in size which was very suggestive of a pheochromocytoma. Read More

Case Rep Endocrinol 2018 10;2018:8967159. Epub 2018 Jul 10.

Division of Endocrinology and Metabolism, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, New York 14642, USA.

Von Hippel-Lindau (VHL) disease, caused by germline mutations in the gene, is characterized by metachronously occurring tumors including pheochromocytoma, renal cell carcinoma (RCC), and hemangioblastoma. Although VHL disease leads to reduced life expectancy, its diagnosis is often missed and tumor screening guidelines are sparse. VHL protein acts as a tumor suppressor by targeting hypoxia-inducible factors (HIFs) for degradation through an oxygen-dependent mechanism. Read More

Case Rep Endocrinol 2018 11;2018:8956712. Epub 2018 Jul 11.

Pathology Department, Isaac Gonzalez Oncologic Hospital, San Juan, Puerto Rico, USA.

Ectopic thyroid tissue is a rare clinical entity wherein malignant lesions may arise, the most common one being papillary carcinoma. We present a case of a 68-year-old female who presented with a growing mass in the right clavicle. An MR of the shoulder showed a soft tissue mass arising from the anterior margin of the right distal clavicle. Read More