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Case Reports in Endocrinology

Ryan Hoff, Chung-Kay Koh
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. DKA resolved quickly after discontinuing isoproterenol and starting insulin drip...
2018: Case Reports in Endocrinology
Hanane Latrech, Houssein Madar, Ahmed Gaouzi
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). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.
2018: Case Reports in Endocrinology
Alex González Bóssolo, Michelle Mangual Garcia, Kyrmarie Davila, Ricardo Brau, Javier Sanchez Ortiz, Jose Hernan Martinez
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. We treated the patient conservatively with steroid therapy. However, as a result of disease progression, transsphenoidal surgery was performed to obtain tissue for a pathological analysis. Histopathology revealed an intrasellar germinoma, confirmed by immunochemistry...
2018: Case Reports in Endocrinology
Bindu Gandrapu, Preeyanka Sundar, Brian Phillips
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. We present a 63-year-old postmenopausal woman with clinically and radiologically undetectable testosterone-secreting ovarian tumor, which was later on detected on biopsy...
2018: Case Reports in Endocrinology
Lakshmi Pakath Menon, Spyridoula Maraka
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. We report the case of a 63-year-old man who was noted to have rhonchi during a routine visit. He had a past history of follicular thyroid cancer that was diagnosed 40 years ago and treated with total thyroidectomy and radioactive iodine...
2018: Case Reports in Endocrinology
Marianne Jacob, Surabhi Menon, Christina Botti, Ian Marshall
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 NPR2 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 NPR2 mutations have been reported in patients previously classified with idiopathic short stature (ISS)...
2018: Case Reports in Endocrinology
Carine Ghassan Richa, Ali Ihsan Issa, Akram Salim Echtay, Mohamad Souheil El Rawas
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. She was successfully treated with calcium and calcitriol in the rest of her pregnancy with resolution of symptoms but her infant was born with hypercalcemia and secondary hyperparathyroidism due to the late maternal presentation...
2018: Case Reports in Endocrinology
Meghan E Fredette, Lisa Swartz Topor
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. Case Presentation: A 12-year-old girl with SW-CAH reported 3 recent episodes of vomiting without diarrhea, and accompanying tachycardia, responsive to stress dose steroids...
2018: Case Reports in Endocrinology
Ibtissem Oueslati, Imen Sakka, Olfa Ismail, Ines Akrout, Adel Marghli, Melika Chihaoui
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. She presented with a rapid enlargement of a preexisting goiter without compressive symptoms. The imaging exams showed a voluminous plunging multinodular thyroid gland and multiple bilateral lung nodules...
2018: Case Reports in Endocrinology
Haruhiko Yamazaki, Takeshi Kishida, Go Noguchi, Hiroyuki Iwasaki, Nobuyasu Suganuma, Katsuhiko Masudo, Hirotaka Nakayama, Toshinari Yamashita, Takashi Yamanaka, Yuko Sugawara, Yuka Matsubara, Kaori Kohagura, Yasushi Rino, Munetaka Masuda
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). Right nephrectomy was performed, and the pathology was metastatic PTC. Case 2 was a 68-year-old woman who was diagnosed with left kidney tumor 24 years after surgery for follicular thyroid carcinoma (FTC)...
2018: Case Reports in Endocrinology
Kazunori Kageyama, Noriko Kinoshita, Makoto Daimon
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. Prompt diagnosis and therapy are required to prevent complications in patients with thyrotoxicosis.
2018: Case Reports in Endocrinology
Rishi Raj, Srujana Yada, Aasems Jacob, Dileep Unnikrishnan, Wael Ghali
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...
2018: Case Reports in Endocrinology
Rohan K Henry, Ram K Menon
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. Based on height z-score of - 3.1 and a history of radiation therapy as treatment for a medulloblastoma at 7 years of age, GHD was quite likely...
2018: Case Reports in Endocrinology
Danielle Neuman, Russ Kuker, Francesco Vendrame
The coexistence of thyroid functioning nodules and Graves' disease is called Marine-Lenhart syndrome. This condition is estimated to occur in 0.8-2.7% of patients with Graves' disease with few cases reported in the literature. Criteria for the diagnosis are not well defined. Here, we present a case of hyperthyroidism characterized by the presence of stimulating TSH receptor antibodies and severe bilateral exophthalmos. A thyroid uptake and scan revealed an elevated 24-hour iodine-131 uptake and a discrete hot nodule in the upper pole of the right lobe which was also observed with a thyroid ultrasound...
2018: Case Reports in Endocrinology
Frhana Rahmat, Ananth Kumar Marutha Muthu, Navarasi S Raja Gopal, Soh Jo Han, Azura Sharena Yahaya
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. It may arise from thyroid primary which underwent cystic degeneration or true malignant transformation of ectopic thyroid tissue. Herein, we reported two cases with preoperative diagnosis of benign lateral neck cyst but postoperative histopathological results showed primary papillary thyroid carcinoma...
2018: 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
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