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Case Reports in Endocrinology

Lorena Rasquin, Janna Prater, Jane Mayrin, Corrado Minimo
Background: Pheochromocytoma/paraganglioma is a rare tumor from neuroendocrine cells. 1/3rd of cases have germline mutations. Papillary thyroid carcinoma (PTC) is a common neoplasm from follicular cells of the thyroid. We report a case of pheochromocytoma/paraganglioma and PTC with negative testing for common mutations. Case: 32-year-old male with incidental liver mass during laparoscopy for acute appendicitis. His symptoms included abdominal pain and profuse axillary hyperhidrosis...
2018: Case Reports in Endocrinology
Ana Patricia Torga, Juanita Hodax, Mari Mori, Jennifer Schwab, Jose Bernardo Quintos
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. We describe a case of an adolescent male with Kleefstra syndrome due to a pathogenic variant in the EHMT1 gene whose workup for isolated micropenis is suggestive of a partial hypogonadotropic hypogonadism...
2018: Case Reports in Endocrinology
Carmen Aresta, Gianfranco Butera, Antonietta Tufano, Giorgia Grassi, Livio Luzi, Stefano Benedini
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...
2018: Case Reports in Endocrinology
Sartaj Sandhu, Akshata Desai, Manav Batra, Robin Girdhar, Kaushik Chatterjee, E Helen Kemp, Antoine Makdissi, Ajay Chaudhuri
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. Her vital signs were stable with an unremarkable physical exam. Pertinent medications included calcium carbonate, vitamin D3, calcitriol, efavirenz, emtricitabine, tenofovir disoproxil, hydrochlorothiazide, and inhaled budesonide/formoterol...
2018: Case Reports in Endocrinology
Edwin C Jones, J Craig Rylands, Cortney L Jardet
A case report is presented in which a type-II diabetic patient significantly improved his dysfunctional β -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...
2018: Case Reports in Endocrinology
Chandrika Jayakanthi Subasinghe, Noel Somasundaram, Pathmanathan Sivatharshya, Lalana Devi Ranasinghe, Márta Korbonits
Multiple endocrine neoplasia (MEN) type 1 syndrome is an autosomal dominant disorder caused by germline mutations in MEN1 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. The female patient showed complete response to medical therapy, while the boy developed recurrent resistant prolactinoma needing surgery and radiotherapy...
2018: Case Reports in Endocrinology
Niranjan Tachamo, Bidhya Timilsina, Rashmi Dhital, Theresa Lynn, Vasudev Magaji, Ilan Gabriely
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. We present the case of a 32-year-old primigravida who presented with symptomatic hypercalcemia from her primary hyperparathyroidism. She remained symptomatic despite aggressive conservative management and underwent parathyroidectomy in her first trimester with excellent outcomes...
2018: Case Reports in Endocrinology
Karun Badwal, Tooba Tariq, Diane Peirce
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). This case describes a 25-year-old male with a history of type II diabetes on metformin, sitagliptin, and dapagliflozin who was admitted with his third episode of pancreatitis secondary to hypertriglyceridemia...
2018: Case Reports in Endocrinology
Karl Lhotta, Emanuel Zitt, Hannelore Sprenger-Mähr, Lorin Loacker, Alexander Becherer
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. They were treated with steroids, plasma exchange, rituximab, and thiamazole...
2018: Case Reports in Endocrinology
Lima Lawrence, Oscar Tovar-Camargo, M Cecilia Lansang, Vinni Makin
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...
2018: Case Reports in Endocrinology
Jin Sae Yoo, Juwon Kim, Hyeong Ju Kwon, Jung Soo Lim
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 13.9 mg/dL, inorganic phosphorus of 4.34 mg/dL, and a serum creatinine level of 1.54 mg/dL...
2018: Case Reports in Endocrinology
Lubna Bashir Munshi, Yumiko Tsushima, Kwan Cheng, Maria Brito
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. Our aim is to bring attention to another broadly prescribed medication, megestrol acetate (MA), as the cause of suppression of both these axes. We report a case of symptomatic hypogonadism and asymptomatic AI in a male patient secondary to MA...
2018: Case Reports in Endocrinology
Vinod Kumar, Sushant M Nanavati, Gabriel Melki, Mira Upadhyaya, Raman Dhillon, Sandra Gibiezaite, Patrick Michael, Monisha Singhal
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. Patient was successfully treated with intravenous fluids, insulin infusion, and the altered sensorium was resolved without any sequelae...
2018: Case Reports in Endocrinology
V Larouche, N Garfield, E Mitmaker
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. His initial workup revealed elevated 24h urine catecholamines and metanephrines. An adrenal MRI in March 2017 showed a large 7.6 cm heterogeneous right adrenal lesion...
2018: Case Reports in Endocrinology
Suheyla Gorar, Doga Turkkahraman, Kanay Yararbas
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. Parents were first degree cousins. Index case, a boy, had somatotrope, gonadotrope, thyrotrope, and corticotrope deficiency...
2018: Case Reports in Endocrinology
Sarah Pearlstein, Arash H Lahouti, Elana Opher, Yuri E Nikiforov, Daniel B Kuriloff
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...
2018: Case Reports in Endocrinology
V T S Kaluarachchi, Uditha Bulugahapitiya, Maulee Arambewela, Sonali Gunathilake
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. Her management decisions were made by a multidisciplinary team which decided to deliver the baby by lower segment cesarean section (LSCS) as the pregnancy was advanced and to proceed with interval adrenalectomy after contrast enhanced computer tomography (CECT) of the abdomen with adrenal protocol...
2018: Case Reports in Endocrinology
Olga Astapova, Anindita Biswas, Alessandra DiMauro, Jacob Moalem, Stephen R Hammes
Von Hippel-Lindau (VHL) disease, caused by germline mutations in the VHL 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. VHL mutants with more severely reduced HIF degrading function carry a high risk of RCC, while mutants with preserved HIF degrading capacity do not cause RCC but still lead to other tumors...
2018: Case Reports in Endocrinology
Oscar R Vázquez, Frieda Silva, Eduardo Acosta-Pumarejo, Maria L Marín
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. A fine needle aspiration of the mass showed papillary thyroid carcinoma. PET/CT confirmed the clavicular and mediastinal mass. Excision of the clavicular mass and total thyroidectomy with modified right neck dissection were performed...
2018: Case Reports in Endocrinology
Evgenia Globa, Nataliya Zelinska, Andrew Dauber
Background: Geleophysic dysplasia is a rare multisystem disorder that principally affects the bones, joints, heart, and skin. This condition is inherited either in an autosomal dominant pattern due to FBN1 mutations or in an autosomal recessive pattern due to ADAMTSL2 mutations. Two patients with unaffected parents from unrelated families presented to their endocrinologist with severe short stature, resistant to growth hormone treatment. Routine endocrine tests did not reveal an underlying etiology...
2018: Case Reports in Endocrinology
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