Case Reports in Endocrinology The latest articles from Hindawi Publishing Corporation © 2014 , Hindawi Publishing Corporation . All rights reserved. Metastases to the Thyroid Presenting as a Metabolically Inactive Incidental Thyroid Nodule with Stable Size in 15 Months Thu, 10 Apr 2014 13:38:31 +0000 Though the thyroid gland has a rich vascular supply, incidence of metastatic disease from distant organs is rare. Here we present an unusual case of metastases to the thyroid with several interesting features. A 63-year-old male with history of adenocarcinoma of the right lobe lung (5 years prior to presentation), treated with surgery and chemotherapy, followed by new adenosquamous lung cancer in the left lobe of the lung (one year prior to presentation), treated surgically followed by adjuvant chemotherapy, was referred to Endocrinology section for evaluation of an incidental thyroid nodule on CT chest. Ultrasound (US) of the thyroid revealed a complex, predominantly hypoechoic lesion measuring 1.8 cm within the lower pole of the right thyroid lobe and a subcentimeter lesion in the left lobe of the thyroid. Review of prior CT chests showed that the lesion in the right lobe was stable for 15 months, with no evidence of a hypermetabolic lesion on PET scan. The subcentimeter lesion was not seen on prior CT scans. US guided fine needle aspiration (FNA) and pathology of the lobectomy of the thyroid confirmed adenosquamous carcinoma. Interesting features in this case are that the thyroid metastases occurred without any evidence of synchronous lesions elsewhere, the size was stable over 15 months, and the lesions were metabolically inactive. Subhashini Yaturu and Raina A. Patel Copyright © 2014 Subhashini Yaturu and Raina A. Patel. All rights reserved. A Case of Acute Psychosis in an Adolescent Male Sun, 30 Mar 2014 12:49:16 +0000 Primary hyperparathyroidism (PHPT) is a disorder of calcium homeostasis. We report the case of a 17-year-old adolescent male, who presented with an acute psychosis coinciding with severe hypercalcemia and markedly elevated intact parathyroid hormone (iPTH) level and low vitamin D level. A Sestamibi scan showed a positive signal inferior to the left lobe of the thyroid gland. He had only a partial response to the initial medical and psychiatric management. The enlarged parathyroid gland was resected surgically and postoperatively serum calcium and iPTH levels normalized. The histopathology was compatible with a benign adenoma. Patient’s acute psychotic symptoms resolved gradually after surgery; however he remained under psychiatric care for the behavioral issues for about 6 months after surgery. While psychosis is a rare clinical manifestation of hypercalcemia secondary to PHPT in pediatric population, it should be considered as a clinical clue in an otherwise asymptomatic pediatric patient. Ghufran Babar and Ramin Alemzadeh Copyright © 2014 Ghufran Babar and Ramin Alemzadeh. All rights reserved. Testosterone- and Cortisol-Secreting Adrenocortical Oncocytoma: An Unusual Cause of Hirsutism Tue, 11 Mar 2014 09:54:01 +0000 Objective. Oncocytomas of the adrenal cortex are usually benign and nonfunctional. They are rarely seen as the cause of hirsutism. Therefore, we aimed to report a case of adrenocortical oncocytoma presenting with hirsutism. Methods. We report a testosterone- and cortisol-secreting adrenal oncocytoma in a 23-year-old female patient presenting with hirsutism. Results. The patient had the complaint of hirsutism for the last year. Laboratory tests revealed total testosterone level of 4.2 ng/mL, free testosterone of >100 pg/mL, and DHEAS level of 574 µg/dL. There was no suppression in cortisol levels with 2 mg dexamethasone suppression test (5.4 µg/dL). Adrenal MRI revealed a  mm isointense solid mass lesion in the left adrenal gland and the patient underwent laparoscopic left adrenalectomy. Pathological examination confirmed the diagnosis of benign adrenocortical oncoyctoma. Conclusion. This well-characterized case describes a testosterone- and cortisol-secreting adrenocortical oncocytoma as a possible cause of hirsutism. To our knowledge, this is the second report in the literature. Adrenal oncocytomas should always be considered in the differential diagnosis of hirsutism. Serap Baydur Sahin, Ahmet Fikret Yucel, Recep Bedir, Sabri Ogullar, Teslime Ayaz, and Ekrem Algun Copyright © 2014 Serap Baydur Sahin et al. All rights reserved. Diabetic Myonecrosis: Uncommon Complications in Common Diseases Mon, 10 Mar 2014 07:04:53 +0000 We report a case of sudden thigh pain from spontaneous quadriceps necrosis, also known as diabetic myonecrosis, in a 28-year-old patient with poorly controlled diabetes mellitus. Diabetic muscle infarction is a rare end-organ complication seen in patients with poor glycemic control and advanced chronic microvascular complications. Proposed mechanisms involve atherosclerotic microvascular occlusion, ischemia-reperfusion related injury, vasculitis with microthrombi formation, and an acquired antiphospholipid syndrome. Diabetic myonecrosis most commonly presents as sudden thigh pain with swelling and should be considered in any patient who has poorly controlled diabetes mellitus. Sisira Sran, Manpreet Sran, Nicole Ferguson, and Prachi Anand Copyright © 2014 Sisira Sran et al. All rights reserved. Evaluation of Teriparatide for Treatment of Osteoporosis in Four Patients with Cystic Fibrosis: A Case Series Thu, 06 Mar 2014 12:57:37 +0000 Introduction. Bone disease is a common complication of cystic fibrosis (CF). To date, there have been no reports on the effectiveness of teriparatide, recombinant human parathyroid hormone, to treat CF-related bone disease. Case Presentation. We report on four patients with CF-related bone disease who were treated with teriparatide. Three patients completed two years of therapy with teriparatide, and all had significant improvements in their bone mineral density (BMD). One patient was unable to tolerate teriparatide and discontinued treatment 1 week into therapy. Conclusion. Teriparatide may be a potential treatment option for CF-related bone disease. This report highlights the need for further investigation into the use of teripartide in the CF population. Oranan Siwamogsatham, Kelly Stephens, and Vin Tangpricha Copyright © 2014 Oranan Siwamogsatham et al. All rights reserved. Multifactorial Hypercalcemia and Literature Review on Primary Hyperparathyroidism Associated with Lymphoma Wed, 05 Mar 2014 06:54:06 +0000 The most common cause of hypercalcemia in hospitalized patients is malignancy. Primary hyperparathyroidism most commonly causes hypercalcemia in the outpatient setting. These two account for over 90% of all cases of hypercalcemia. Hypercalcemia can be divided into PTH-mediated and PTH-independent variants. Primary hyperparathyroidism, familial hypocalciuric hypercalcemia, familial hyperparathyroidism, and secondary hyperparathyroidism are PTH mediated. The most common PTH-independent type of hypercalcemia is malignancy related. Several mechanisms lead to hypercalcemia in malignancy-direct osteolysis by metastatic disease or, more commonly, production of humoral factors by the primary tumor also known as humoral hypercalcemia of malignancy that accounts for about 80% of malignancy-related hypercalcemia. The majority of HHM is caused by tumor-produced parathyroid hormone-related protein and less frequently production of 1,25-dihydroxyvitamin D or parathyroid hormone by the tumor. We report the rare case of a patient with hypercalcemia and diagnosed primary hyperparathyroidism. The patient had persistent hypercalcemia after surgical removal of parathyroid adenoma with recorded significant decrease in PTH level. After continued investigation it was found that the patient also had elevated 1,25-dihydroxyvitamin D and further studies confirmed a large spleen mass that was later confirmed to be a lymphoma. This is a rare example of two concomitant causes of hypercalcemia requiring therapy. Jelena Maletkovic, Jennifer P. Isorena, Miguel Fernando Palma Diaz, Stanley G. Korenman, and Michael W. Yeh Copyright © 2014 Jelena Maletkovic et al. All rights reserved. F-18 FDG-PET-CT in the Diagnostic of a Late Medullary Thyroid Carcinoma Recurrence in a Patient with Follicular-Papillary Thyroid Cancer Thu, 20 Feb 2014 12:58:43 +0000 Mixed medullary and follicular or papillary carcinoma of thyroid is an extremely rare tumor, characterized by coexistence of morphological and immunohistochemical features of both medullary carcinoma and follicular (or papillary) carcinoma. This case report describes for the first time in the indexed database a late recurrence of a medullary thyroid carcinoma initially diagnosed as follicular-papillary form, treated and monitored accordingly. After 14 years, a superior mediastinum tumor was discovered incidentally at a thorax computer tomography. The whole-body I-131 scan was negative and F-18 FDG-PET-CT showed glucose avidity of the tumor. The patient was operated on and the histology revealed medullary thyroid carcinoma. If there are no possibilities to have routinely extensive immunohistologic profiles, it is recommended to check the serum calcitonin, at least in any patient with confirmed thyroid carcinoma. Doina Piciu and Andra Piciu Copyright © 2014 Doina Piciu and Andra Piciu. All rights reserved. Rhabdomyolysis Induced by Nonstrenuous Exercise in a Patient with Graves’ Disease Tue, 11 Feb 2014 12:21:38 +0000 Hyperthyroidism can result in several musculoskeletal conditions such as thyrotoxic periodic paralysis, thyrotoxic myopathy, and thyroid ophthalmopathy. Rhabdomyolysis has been rarely reported to be associated with hyperthyroidism. We describe a 33-year-old man who presented with bilateral thigh pain and dark brown urine after regular squatting. He had a past medical history of hyperthyroidism but stopped taking it 2 months prior to admission. He was found to have rhabdomyolysis, myoglobinuria, and thyrotoxicosis. Presence of thyroid-stimulating immunoglobulins (TSI) and high radioiodine uptake confirmed a diagnosis of Graves' disease. He received aggressive fluid resuscitation and sodium bicarbonate intravenously along with monitoring fluid and electrolyte. Methimazole was also resumed. The patient responded to treatment and rhabdomyolysis gradually resolved. Therefore, nonstrenuous exercise can potentially induce rhabdomyolysis in patients with hyperthyroidism. Although hyperthyroidism is not widely recognized as a cause of rhabdomyolysis, it should be considered in the differential diagnosis of rhabdomyolysis. Sarawut Summachiwakij and Issac Sachmechi Copyright © 2014 Sarawut Summachiwakij and Issac Sachmechi. All rights reserved. A Case Report of Post-Operative Jöd-Basedow Phenomennon Following Oral and IV Iodine Contrast Administration Tue, 11 Feb 2014 09:11:50 +0000 This is a case of thyrotoxicosis, due to the Jöd-Basedow phenomenon following administration of oral and IV iodinated contrast in a patient with history of gastrointestinal stromal tumor (GIST) and small bowel obstruction. The patient developed atrial fibrillation and had an extended stay in the intensive care unit. Given the aging population with possible subclinical hyperthyroidism, multinodular goiter, and the rise in contrast administration for routine diagnostic studies, this case serves to raise awareness of the risks of “routine” tests administered to our aging patient population. Maureen Higgs, Erroll Hull, and Eugenio Lujan Copyright © 2014 Maureen Higgs et al. All rights reserved. Life-Threatening Hypokalemic Paralysis in a Young Bodybuilder Tue, 11 Feb 2014 00:00:00 +0000 We report a case of life-threatening hypokalemia in a 28-year-old bodybuilder who presented with sudden onset bilateral lower limbs paralysis few days after his bodybuilding competition. His electrocardiogram (ECG) showed typical u-waves due to severe hypokalemia (serum potassium 1.6 mmol/L, reference range (RR) 3.5–5.0 mmol/L). He was admitted to the intensive care unit (ICU) and was treated with potassium replacement. The patient later admitted that he had exposed himself to weight loss agents of unknown nature, purchased online, and large carbohydrate loads in preparation for the competition. He made a full recovery after a few days and discharged himself from the hospital against medical advice. The severe hypokalemia was thought to be caused by several mechanisms to be discussed in this report. With the ever rising number of new fitness centers recently, the ease of online purchasing of almost any drug, and the increasing numbers of youngsters getting into the bodybuilding arena, clinicians should be able to recognize the possible causes of sudden severe hypokalemia in these patients in order to revert the pathophysiology. Kitty K. T. Cheung, Wing-Yee So, Alice P. S. Kong, Ronald C. W. Ma, and Francis C. C. Chow Copyright © 2014 Kitty K. T. Cheung et al. All rights reserved. Three-Year Successful Cinacalcet Treatment of Secondary Hyperparathyroidism in a Patient with X-Linked Dominant Hypophosphatemic Rickets: A Case Report Mon, 10 Feb 2014 13:39:49 +0000 Hypophosphatemic rickets (HR) is a rare inherited disorder characterized by a classic rickets phenotype with low plasma phosphate levels and resistance to treatment with vitamin D. Development of secondary hyperparathyroidism (SHPT) as a direct consequence of treatment is a frequent complication and a major clinical challenge, as this may increase risk of further comorbidity. Cinacalcet, a calcimimetic agent that reduces the secretion of PTH from the parathyroid glands, has been suggested as adjuvant treatment to SHPT in patients with HR. However, only two papers have previously been published and no data are available on effects of treatment for more than six months. We now report a case of 3-year treatment with cinacalcet in a patient with HR complicated by SHPT. A 53-year-old woman with genetically confirmed X-linked dominant hypophosphatemic rickets developed SHPT after 25 years of conventional treatment with alfacalcidol and phosphate supplements. Cinacalcet was added to her treatment, causing a sustained normalization of PTH. Ionized calcium decreased, requiring reduction of cinacalcet, though asymptomatical. Level of phosphate was unchanged, but alkaline phosphatase increased in response to treatment. Cinacalcet appeared to be efficient, safe, and well tolerated. We recommend close control of plasma calcium to avoid hypocalcemia. Diana Grove-Laugesen and Lars Rejnmark Copyright © 2014 Diana Grove-Laugesen and Lars Rejnmark. All rights reserved. Germinoma with Involvement of Midline and Off-Midline Intracranial Structures Sun, 09 Feb 2014 09:26:32 +0000 Germinomas are malignant intracranial germ tumors, usually found in suprasellar regions. Less than 10% are localized in off-middle structures, and synchronous involvement of both structures has only exceptionally been published. A case of an 18-year-old male patient with progressive right-sided hemiparesis and panhypopituitarism was reviewed. Brain MRI showed a solid mass involving pituitary and hypothalamus with thickening of pituitary stalk, high intensity lesions on T2-weighted imaging in left internal capsule, caudate nucleus, globus pallidus, and mild atrophy of the left internal capsule and cerebral peduncle. Nonadenomatous lesions were considered in the differential diagnosis. Alfa-fetoprotein (AFP) levels were negative in both serum and cerebrospinal fluid (CSF), while β-human chorionic gonadotrophin (β-HCG) levels were slightly increased in CSF. A transsphenoidal biopsy identified a germinoma. Four cycles of chemotherapy with bleomicine, etoposide, and cysplatin were given, followed by radiotherapy, but patients died due to a recidiva. Conclusion. Germinoma must be considered in patients with insipidus diabetes with a sellar mass with thickening of pituitary stalk; and ectopic germinoma must be suspected in patients with slowly progressive hemiparesis with cerebral hemiatrophy. Even with a rare condition, colocalization of midline and off-midline germinoma must be suspected in the presence of these typical signs of both localizations. Monica Graciela Loto, Karina Danilowicz, Santiago González Abbati, Rafael Torino, and Alejandro Misiunas Copyright © 2014 Monica Graciela Loto et al. All rights reserved. FGF23 Producing Mesenchymal Tumor Mon, 03 Feb 2014 14:28:22 +0000 A 40-year-old patient was referred to Clinic of Endocrinology due to hypophosphatemia causing pain, cramps, and weakness of muscles. Moreover, his bone mineral density was very low. The previous treatment with phosphorus and active vitamin D metabolites was ineffective. In lab tests the hypophosphatemia, hyperphosphaturia, and elevated FGF23 levels were found. Somatostatin receptor scintigraphy (SRS) showed increased radiotracer uptake in the right maxillary sinus and CT scans confirmed presence of tumor in this localization. Biopsy and cytological examination created suspicion of mesenchymal tumor—glomangiopericytoma. Waiting for surgery the patient was treated with long acting Somatostatine analogue, and directly before operation short acting Octreotide and intravenous phosphorus were used. Histology confirmed the cytological diagnosis and the phosphatemia return to normal values in 10 days after the tumor removal. Lucyna Papierska, Jarosław B. Ćwikła, Waldemar Misiorowski, Michał Rabijewski, Krzysztof Sikora, and Hubert Wanyura Copyright © 2014 Lucyna Papierska et al. All rights reserved. Testicular “Hyperstimulation” Syndrome: A Case of Functional Gonadotropinoma Tue, 28 Jan 2014 09:37:54 +0000 Gonadotropins secreting pituitary tumors tend to present as sellar mass with hypogonadism. Biologically active LH secretion by these tumors resulting in elevated testosterone is extremely rare. We report a case of a 48-year-old male patient who presented with giant pituitary tumor, elevated testosterone, and elevated levels of gonadotropins. Surgical resection of the tumor resulted in normalization of gonadotropins and fall in serum testosterone to subnormal levels in the postoperative period confirming that the tumor was secreting bioactive luteinizing hormone (LH). Astha Thakkar, Subramanian Kannan, Amir Hamrahian, Richard A. Prayson, Robert J. Weil, and Charles Faiman Copyright © 2014 Astha Thakkar et al. All rights reserved. Unpredictable Nature of Tolvaptan in Treatment of Hypervolemic Hyponatremia: Case Review on Role of Vaptans Wed, 08 Jan 2014 00:00:00 +0000 Hyponatremia is one of the most commonly encountered electrolyte abnormalities occurring in up to 22% of hospitalized patients. Hyponatremia usually reflects excess water retention relative to sodium rather than sodium deficiency. Volume status and serum osmolality are essential to determine etiology. Treatment depends on several factors, including the cause, overall volume status of the patient, severity of hyponatremic symptoms, and duration of hyponatremia at presentation. Vasopressin antagonists like tolvaptan seem promising for the treatment of euvolemic and hypervolemic hyponatremia in heart failure. Low sodium concentrations cause cerebral edema, but the overly rapid sodium correction can also lead to iatrogenic cerebral osmotic demyelination syndrome. Demyelination may occur days after sodium correction or initial neurologic recovery from hyponatremia. The following case report analyzes the role of vasopressin antagonists in the treatment of hyponatremia and the need for daily dosing of tolvaptan and the monitoring of serum sodium levels to avoid rapid overcorrection which can result in osmotic demyelination syndrome (ODS). Ishan Malhotra, Shilpa Gopinath, Kalyana C. Janga, Sheldon Greenberg, Shree K. Sharma, and Regina Tarkovsky Copyright © 2014 Ishan Malhotra et al. All rights reserved. Chemotherapy-Induced Regression of an Adrenocorticotropin-Secreting Pituitary Carcinoma Accompanied by Secondary Adrenal Insufficiency Sun, 22 Dec 2013 18:44:04 +0000 Purpose. Adrenocorticotropin- (ACTH-) secreting pituitary carcinomas are rare and require multimodality treatment. The aim of this study was to report the response to various therapies and discuss the potential development of secondary adrenal insufficiency with cytotoxic chemotherapy. Methods. This report describes a man with a large silent corticotroph adenoma progressing to endogenous hypercortisolism and metastatic ACTH-secreting pituitary carcinoma over a period of 14 years. Results. Seven years after initial presentation, progressive tumor enlargement associated with the development of hypercortisolism mandated multiple pituitary tumor debulking procedures and radiotherapy. Testing of the Ki-67 proliferation index was markedly high and he developed a hepatic metastasis. Combination therapy with cisplatin and etoposide resulted in a substantial reduction in tumor size, near-complete regression of his liver metastasis, and dramatic decrease in ACTH secretion. This unexpectedly resulted in symptomatic secondary adrenal insufficiency. Conclusions. This is the first reported case of secondary adrenal insufficiency after use of cytotoxic chemotherapy for metastatic ACTH-secreting pituitary carcinoma. High proliferative indices may be predictive of dramatic responses to chemotherapy. Given the potential for such responses, the development of secondary adrenal insufficiency may occur and patients should be monitored accordingly. Robert Frank Cornell, Daniel F. Kelly, Gal Bordo, Ty B. Carroll, Huy T. Duong, Julie Kim, Yuki Takasumi, James P. Thomas, Yee Lan Wong, and James W. Findling Copyright © 2013 Robert Frank Cornell et al. All rights reserved. Insulinoma Presenting with Long-Standing Depression, Primary Hypogonadism, and Sertoli Cell Only Syndrome Sun, 22 Dec 2013 11:57:45 +0000 The aim was to report an unusual case of insulinoma presenting with long-standing depression and primary testicular failure. We describe a 34-year-old male with clinical, laboratory, and radiologic data consistent with islet cell tumor and seminiferous tubule failure primary hypogonadism. The literature is reviewed relative to the component of this syndrome, and a possible association is discussed. The subject was investigated for a long-standing history of depression requiring medical attention because of mental confusion and slurred speech and was found to have an insulinoma. He was diagnosed with primary gonadal failure and physical examination showed no evidence of dysmorphic features. Chromosomal analysis revealed normal 46 XY and testicular biopsy showed Sertoli cell only syndrome (SCOS). Biochemistry revealed endogenous hyperinsulinism and histology confirmed an islet cell tumor. He remained euglycemic postoperatively and on followup. From this report, we emphasize drawing clinicians' attention to the possibility of an association between insulinoma and primary testicular failure and suggest consideration of this diagnosis in patients with hypergonadotropic hypogonadism who may present with infertility. Usman H. Malabu, Durgesh Gowda, and Yong Mong Tan Copyright © 2013 Usman H. Malabu et al. All rights reserved. Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy Thu, 19 Dec 2013 11:33:29 +0000 Type 1 pseudohypoaldosteronism (PHA1) is a salt wasting syndrome caused by renal resistance to aldosterone. Primary renal PHA1 or autosomal dominant PHA1 is caused by mutations in mineralocorticoids receptor gene (NR3C2), while secondary PHA1 is frequently associated with urinary tract infection (UTI) and/or urinary tract malformations (UTM). We report a 14-day-old male infant presenting with severe hyperkalemia, hyponatremic dehydration, metabolic acidosis, and markedly elevated serum aldosterone level, initially thought to have secondary PHA1 due to the associated UTI and posterior urethral valves. His serum aldosterone remained elevated at 5 months of age, despite resolution of salt wasting symptoms. Chromosomal microarray analysis revealed a deletion of exons 3–5 in NR3C2 in the patient and his asymptomatic mother who also had elevated serum aldosterone level, confirming that he had primary or autosomal dominant PHA1. Our case raises the possibility that some patients with secondary PHA1 attributed to UTI and/or UTM may instead have primary autosomal dominant PHA1, for which genetic testing should be considered to identify the cause, determine future recurrence risk, and possibly prevent the life-threatening salt wasting in a subsequent family member. Future clinical research is needed to investigate the potential overlapping between secondary PHA1 and primary autosomal dominant PHA1. Sasigarn A. Bowden, Corin Cozzi, Scott E. Hickey, Devon Lamb Thrush, Caroline Astbury, and Sushma Nuthakki Copyright © 2013 Sasigarn A. Bowden et al. All rights reserved. Aspergillus Thyroiditis: A Complication of Respiratory Tract Infection in an Immunocompromised Patient Wed, 18 Dec 2013 17:22:15 +0000 A 59-year-old male with past medical history significant for non-Hodgkin’s lymphoma status after chemotherapy presented with acute onset of neck pain, odynophagia, and dysphagia associated with subjective fever, chills, and dyspnea. Physical findings included a temperature of 38.4°C, hypertension, and tachycardia. Patient was found to have anterior neck tenderness. Laboratory evaluation revealed neutropenia. The patient was started on empiric antibacterial and antiviral therapy and continued on home prophylactic antifungal treatment. Thyroid function tests revealed overt hyperthyroidism. A thyroid ultrasound showed heterogeneous echotexture without discrete nodules. Subacute thyroiditis was treated with methylprednisolone, metoprolol, and opiate analgesics. Patient’s antibacterial, antifungal, and antiviral treatments were broadened. A fine needle aspiration was not conducted. The patient’s condition deteriorated rapidly over his brief hospital course and he expired. Autopsy showed fungal thyroiditis secondary to disseminated invasive Aspergillus. This report describes the presentation of fungal thyroiditis secondary to disseminated invasive Aspergillus originating from the respiratory tract. The authors review the diagnostic challenges, pathophysiology, and treatment of this condition. Madiha M. Alvi, David S. Meyer, Nicholas J. Hardin, James G. deKay, Annis M. Marney, and Matthew P. Gilbert Copyright © 2013 Madiha M. Alvi et al. All rights reserved. Metastatic Insulinoma Managed with Radiolabeled Somatostatin Analog Tue, 17 Dec 2013 14:36:21 +0000 Insulinoma is a rare pancreatic neuroendocrine tumor. Overproduction of insulin and associated hypoglycemia are hallmark features of this disease. Diagnosis can be made through demonstration of hypoglycemia and elevated plasma levels of insulin or C-Peptide. Metastatic disease can be detected through computerized tomography (CT) scans, magnetic resonance imaging (MRI), and positron emission tomography (PET)/CT. Somatostatin receptor scintigraphy can be used not only to document metastatic disease but also as a predictive marker of the benefit from therapy with radiolabeled somatostatin analog. Unresectable metastatic insulinomas may present as a major therapeutic challenge for the treating physician. When feasible, resection is the mainstay of treatment. Prevention of hypoglycemia is a crucial goal of therapy for unresectable/metastatic tumors. Diazoxide, hydrochlorothiazide, glucagon, and intravenous glucose infusions have been used for glycemic control yielding temporary and inconsistent results. Sandostatin and its long-acting depot forms have occasionally been used in the treatment of Octreoscan-positive insulinomas. Herein, we report a case of metastatic insulinoma with very difficult glycemic control successfully treated with the radiolabeled somatostatin analog lutetium (177LU). Ricardo Costa, Rubens Costa, Carlos E. Bacchi, and Paulo Almeida Filho Copyright © 2013 Ricardo Costa et al. All rights reserved. Metyrapone for Long-Term Medical Management of Cushing’s Syndrome Thu, 12 Dec 2013 09:00:15 +0000 Cushing’s syndrome is characterized by any cause of excess cortisol in the blood and produces many physiologic consequences. Left untreated, Cushing’s is associated with significant morbidity and mortality. Seventy percent of endogenous cases of Cushing’s syndrome are secondary to a pituitary tumor; because of this, the primary mode of management is surgical resection of the tumor. Should hypercortisolism persist following surgical resection, further treatment options are limited. Metyrapone is an orphan medication that is often used in the diagnosis of the disease and occasionally for short-term treatment prior to surgery. Long-term treatment with metyrapone is usually discouraged due to the contradictory increase in ACTH production, acne, hirsutism, hyperkalemia, edema, and other mineralocorticoid effects. We present a patient with refractory Cushing’s syndrome successfully treated for nearly 6 years with metyrapone with minimal adverse effects. This orphan medication may be a viable long-term treatment option for this difficult disease. Andrea N. Traina, Ashley Farr, Ritu Malik, and Robert J. Bingham Copyright © 2013 Andrea N. Traina et al. All rights reserved. 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea Sat, 07 Dec 2013 15:05:08 +0000 Steroid 5-alpha-reductase 2 deficiency is a rare disorder leading to male pseudohermaphroditism, a condition characterized by incomplete differentiation of male genitalia in 46,XY patients. Here, we report a case of a 21-year-old woman from Ardabil who presented with primary amenorrhea, ambiguous genitalia, and lack of breast development. All of the serum hormone profiles were normal except for raised serum total testosterone. Testosterone to DHT ratio (T/DHT) was elevated before (15.72) and further increased after hCG stimulation (32.46). A chromosomal study revealed a 46,XY karyotype. A bilateral gonadectomy, recessive cliteroplasty, urethroplasty, and vaginoplasty were performed and hormonal replacement therapy using estrogen was started. In conclusion, the diagnosis of 5-alpha-reductase 2 deficiency may be suspected in infants with ambiguous genitalia or in adolescents or young adults with the characteristic phenotype and serum hormone profiles. Nasrollah Maleki, Mohammadreza Kalantar Hormozi, Manouchehr Iranparvar Alamdari, and Zahra Tavosi Copyright © 2013 Nasrollah Maleki et al. All rights reserved. Fibrous Variant of Hashimoto’s Thyroiditis as a Diagnostic Pitfall in Thyroid Pathology Thu, 05 Dec 2013 10:50:07 +0000 Fibrous variant of Hashimoto’s thyroiditis is a rare condition occurring in about 10% cases, mainly middle age people. It is characterized by an extensive fibrous proliferation without extension into the surrounding structures. A 55-year-old female was referred to our department for an unexplained onset of cervical discomfort. She presented a voluminous goiter of hard consistence, dyspnea and dysphagia. Given the compressive symptoms and the non-diagnostic result of the biopsy, a total thyroidectomy was performed. Microscopically the thyroid parenchyma was characterized by broad bands of fibrosis with severe atrophy of thyroid follicles and lymphocytic inflammatory infiltrate distributed within and around the lobules. In view of the morphological and immunohistochemical findings, a diagnosis of HTFV was made. The fibrosclerotic process is the key feature of several thyroid diseases so that the clinician and the pathologist have to consider that many diagnostic pitfalls can occur in this field. The differential diagnosis between HTFV and RD is sometimes arduous due to the partial clinical and morphological overlapping and to the poor efficacy of conventional cytology as well as pre-surgical biopsy. Considering these features, histological examination is mostly mandatory. G. Iannaci, R. Luise, P. Sapere, V. Coluccino, A. Ronchi, A. Faggiano, V. Marotta, A. Colao, and S. Spiezia Copyright © 2013 G. Iannaci et al. All rights reserved. Treatment of Pathological Bone Fractures in a Patient with McCune-Albright Syndrome Thu, 28 Nov 2013 08:52:41 +0000 McCune-Albright syndrome is a rare genetic disorder with typical skeletal and endocrine manifestations. The disease course is complicated by recurrent fractures resulting from polyostotic fibrous dysplasia and the treatment is thus primarily directed at the reduction of the risk of fractures. However, due to the complex mechanism of the skeletal damage the standard antiporotic therapeutics are ineffective. We report here a case of a 31-year-old female, diagnosed with the McCune-Albright syndrome in early childhood. She was suffering from extensive bone involvement, complicated by recurrent fractures despite the treatment with bisphosphonates. In addition, the disease course was complicated by the impairment of several endocrine functions—precocious puberty, hyperestrogenism, and hyperthyroidism for which a total thyroidectomy was performed. During the operation, two enlarged parathyroid glands were removed. This resulted in severe hypocalcaemia in the postoperative period with a need for supplementation with very high calcium and vitamin D doses. After this episode, the patient has remained free of fractures. We discuss here the corrected thyroid function, the supplementation with unconventionally high doses of vitamin D and calcium, and the termination of bisphosphonates treatment as presumable factors contributing to the reduced fracture risk in this patient. Jana Kollerova, Tomas Koller, Zuzana Zelinkova, Ludmila Kostalova, and Juraj Payer Copyright © 2013 Jana Kollerova et al. All rights reserved. Monitoring Patient Improvement Parameters following Pasireotide Treatment in Cushing’s Disease Thu, 31 Oct 2013 18:49:08 +0000 Cushing’s disease (CD) is a disorder in which chronic excess adrenocorticotropic hormone production is associated with multiple comorbidities and diminished quality of life. Postsurgical monitoring is important, and newer therapies are available for the management of surgical failure or disease recurrence. In this clinical case, we illustrate the importance of the nursing role in long-term management of CD, particularly as nurses may be the first point of contact for patients with CD. Alertness to disease signs and symptoms is crucial for timely diagnosis and improved outcomes. Successful therapy for CD requires careful monitoring of hormonal control, metabolic parameters, and therapy complications. Ongoing management requires lifelong monitoring of metabolic parameters, of side effects of treatment, and of signs of disease recurrence. Appropriate referrals may be required to facilitate overall outcomes and patient wellbeing. This patient was enrolled in a Phase III trial that was registered in the USA with Chris Yedinak, Jessica Brzana, and Maria Fleseriu Copyright © 2013 Chris Yedinak et al. All rights reserved. Mixed Medullary-Follicular Carcinoma of the Thyroid Tue, 29 Oct 2013 18:23:51 +0000 Introduction. Mixed medullary-follicular thyroid carcinoma is an uncommon tumor that consists of both follicular and parafollicular cells. Case. We report a 43-year-old woman with a palpable mass in the right side of the neck. Fine needle aspiration suggested a diagnosis of high grade anaplastic carcinoma that has been associated with papillary features. Total thyroidectomy was done in which histopathological examination showed diagnosis of medullary carcinoma. Immunohistochemical staining was positive for chromogranin, calcitonin, and thyroglobulin in tumoral cells. Conclusion. Mixed medullary-follicular thyroid carcinoma is a rare tumor. Diagnosis of these tumors with fine needle aspiration is very difficult and may lead to misdiagnosis. It is necessary to correlate the cytological finding with serum calcitonin and thyroglobulin. Also immunostaining for calcitonin and thyroglobulin confirms diagnosis. Maasumeh Tohidi, Gholamreza Pourbehi, Mohammad Bahmanyar, Seyed Sajjad Eghbali, Mohammadreza Kalantar Hormozi, and Iraj Nabipour Copyright © 2013 Maasumeh Tohidi et al. All rights reserved. Neurofibromatosis Type 1 and Diabetes Mellitus: An Unusual Association Tue, 29 Oct 2013 10:42:55 +0000 Neurofibromatosis type 1 is a multisystemic disease. It may manifest as abnormalities of the nervous tissue, bones, soft tissue, or skin. Autoimmune disease associated with NF1 can be seen. Diabetes mellitus is rarely seen in association with NF1. Here, we report a case with established NF1 who also had a diagnosis of diabetes mellitus. Bayram Ozhan, Ali Aykan Ozguven, and Betül Ersoy Copyright © 2013 Bayram Ozhan et al. All rights reserved. Malignant Catatonia Mimicking Pheochromocytoma Tue, 22 Oct 2013 17:04:10 +0000 Malignant catatonia is an unusual and highly fatal neuropsychiatric condition which can present with clinical and biochemical manifestations similar to those of pheochromocytoma. Differentiating between the two diseases is essential as management options greatly diverge. We describe a case of malignant catatonia in a 20-year-old male who presented with concurrent psychotic symptoms and autonomic instability, with markedly increased 24-hour urinary levels of norepinephrine at 1752 nmol/day (normal, 89–470 nmol/day), epinephrine at 1045 nmol/day (normal, <160 nmol/day), and dopamine at 7.9 μmol/day (normal, 0.4–3.3 μmol/day). The patient was treated with multiple sessions of electroconvulsive therapy, which led to complete clinical resolution. Repeat urine collections within weeks of this presenting event revealed normalization or near normalization of his catecholamine and metanephrine levels. Malignant catatonia should be considered in the differential diagnosis of the hypercatecholamine state, particularly in a patient who also exhibits concurrent catatonic features. Sophia Wong, Barbara Hughes, Morris Pudek, and Dailin Li Copyright © 2013 Sophia Wong et al. All rights reserved. A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia Tue, 22 Oct 2013 10:03:49 +0000 Disorders of sex development (DSD), formerly termed “intersex” conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD. Sex chromosome disorders, including sex chromosome mosaicism, are the second most common cause of DSD. We discuss a medically complex neonate with DSD presenting with ambiguous genitalia. Hormone levels suggested 21-hydroxylase deficiency. Molecular analysis revealed compound heterozygous mutations in the 21-hydroxylase gene (CYP21A2), confirming the diagnosis of CAH. Chromosome analysis revealed sex chromosome mosaicism with three cell lines: 45,X[8]/45,X,tas(Y;16)(p11.32;p13.3)[8]/45,X,t(Y;8)(p11.32;p23.3)[4] with the Y chromosome in telomere association with chromosomes 8p and 16p in different cell lines, a “jumping translocation.” Histologically, the right gonad had irregular, distended seminiferous tubules with hyperplastic germ cells contiguous with ovarian stroma and primordial follicles. The left gonad had scant ovarian stroma and embryonic remnants. Chromosome analyses showed mosaicism in both gonads: 45,X[17]/45,X,tas(Y;8)(p11.32;p23.3)[3]. This is the first case of coexisting CAH and 45,X/46,XY mosaicism reported in the English literature and the third case of a constitutional chromosome Y “jumping translocation.” Our report documents the medical and genetic complexity of children such as this one with ambiguous genitalia and discusses the need for a multidisciplinary team approach. Lei Zhang, Linda D. Cooley, Sonal R. Chandratre, Atif Ahmed, and Jill D. Jacobson Copyright © 2013 Lei Zhang et al. All rights reserved. Laparoscopic Adjustable Gastric Banding and Hypoglycemia Thu, 03 Oct 2013 19:28:20 +0000 Obesity is commonplace, and surgical treatment usually includes Roux-en-Y gastric bypasses (RYGBs). RYGBs have the most documented side effects including vitamin deficiencies, rebound weight gain, and symptomatic hypoglycemia; fewer series exist describing hypoglycemia following other bariatric operations. We reviewed all patients undergoing laparoscopic adjustable gastric banding (LAGB) at our institution between 2008 and 2012. Three patients were identified to have symptomatic hypoglycemia following LAGB. Mean time from surgery was 33 months (range 14–45 months), and mean weight loss was 32.7 kg (range 15.9–43.1 kg). None of the patients had preexisting diabetes. Therefore, symptomatic hypoglycemia should be investigated irrespective of bariatric operation. Sigrid Bairdain, Mark Cleary, Chueh Lien, Ashley H. Vernon, Bradley C. Linden, and David B. Lautz Copyright © 2013 Sigrid Bairdain et al. All rights reserved.