Case Reports in Endocrinology https://www.hindawi.com The latest articles from Hindawi © 2017 , Hindawi Limited . All rights reserved. Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature Wed, 30 Aug 2017 06:25:54 +0000 http://www.hindawi.com/journals/crie/2017/7287351/ Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2–15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past medical history and birth history were unremarkable. Family history was notable for multiple individuals with short stature. Physical exam revealed short stature, with height standard deviation score (SDS) of −2.98, as well as arm span 3 cm less than his height. His laboratory workup was noncontributory for common etiologies of short stature. Due to significant familial short stature and shortened arm span, SHOX gene analysis was performed and revealed patient is heterozygous for a novel SHOX gene mutation at nucleotide position c.582. This mutation is predicted to cause termination of the SHOX protein at codon 194, effectively causing haploinsufficiency. Six out of nine other siblings were later found to also be heterozygous for the same mutation. Growth hormone was initiated in all seven siblings upon diagnosis and they have demonstrated improved height SDS. Elizabeth S. Sandberg, Ali S. Calikoglu, Karen J. Loechner, and Lydia L. Snyder Copyright © 2017 Elizabeth S. Sandberg et al. All rights reserved. Severe Thyrotoxicosis Secondary to Povidone-Iodine from Peritoneal Dialysis Thu, 24 Aug 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/2683120/ A 73-year-old male on home peritoneal dialysis (PD) with recent diagnosis of atrial fibrillation presented with fatigue and dyspnea. Hyperthyroidism was diagnosed with TSH < 0.01 mIU/L and FT4 > 100 pmol/L. He had no personal or family history of thyroid disease. There had been no exposures to CT contrast, amiodarone, or iodine. Technetium thyroid scan showed diffusely decreased uptake. He was discharged with a presumptive diagnosis of thyroiditis. Three weeks later, he had deteriorated clinically. Possible iodine sources were again reviewed, and it was determined that povidone-iodine solution was used with each PD cycle. Methimazole 25 mg daily was initiated; however, he had difficulty tolerating the medication and continued to clinically deteriorate. He was readmitted to hospital where methimazole was restarted at 20 mg bid with high dose prednisone 25 mg and daily plasma exchange (PLEX) therapy. Biochemical improvement was observed with FT4 dropping to 48.5 pmol/L by day 10, but FT4 rebounded to 67.8 pmol/L after PLEX was discontinued. PLEX was restarted and thyroidectomy was performed. Pathology revealed nodular hyperplasia with no evidence of thyroiditis. Preoperative plasma iodine levels were greater than 5 times the upper limit of normal range. We hypothesize that the patient had underlying autonomous thyroid hormone production exacerbated by exogenous iodine exposure from a previously unreported PD-related source. Kirstie Lithgow and Christopher Symonds Copyright © 2017 Kirstie Lithgow and Christopher Symonds. All rights reserved. A Case of Hyperparathyroidism due to a Large Intrathyroid Parathyroid Adenoma with Recurrent Episodes of Acute Pancreatitis Wed, 26 Jul 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/5376741/ We report a case of a 66-year-old woman who developed hyperparathyroidism due to a large intrathyroid parathyroid adenoma with episodes of acute pancreatitis. She had previously been treated for acute pancreatitis twice. Serum calcium was 12.4 mg/dL, and intact parathyroid hormone was 253 pg/dL. Ultrasonography and computed tomography of the neck with contrast enhancement revealed a soft tissue mass (28 mm transverse diameter) within the left lobe of the thyroid. Tc-MIBI scintigraphy demonstrated focal accumulation due to increased radiotracer uptake in the left thyroid lobe. Left hemithyroidectomy was performed. Histopathology showed no signs of invasion, and this is consistent with parathyroid adenoma. Immunostaining was positive for expression of chromogranin A and parathyroid hormone. The patient had no episode of pancreatitis after the operation. In a patient with recurrent episodes of pancreatitis, the possibility of complication with hyperparathyroidism should be considered. Kazunori Kageyama, Noriko Ishigame, Aya Sugiyama, Akiko Igawa, Takashi Nishi, Satoko Morohashi, Hiroshi Kijima, and Makoto Daimon Copyright © 2017 Kazunori Kageyama et al. All rights reserved. A Recurrent Episode of Dermatomyositis Associated with Papillary Thyroid Cancer Wed, 19 Jul 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/7985953/ Objective. It is uncommon for dermatomyositis to be associated with papillary thyroid cancer. We report an unusual case of papillary thyroid cancer presenting with dermatomyositis. Methods. The case history, imaging and laboratory data is reviewed. Results. We report the case of a 62-year-old female with a prior history of dermatomyositis and breast cancer who presented with a recurrent episode of dermatomyositis. Extensive evaluation of the cause of the dermatomyositis recurrence revealed no recurrence of the breast cancer but a thyroid nodule was identified. The nodule was biopsied and the patient was noted to have papillary thyroid cancer. The patient subsequently underwent total thyroidectomy and had gradual improvement in her dermatomyositis. Conclusion. It is very uncommon for dermatomyositis to be associated with papillary thyroid cancer. Vijay Gopal Eranki Copyright © 2017 Vijay Gopal Eranki. All rights reserved. A Case of Male Osteoporosis: A 37-Year-Old Man with Multiple Vertebral Compression Fractures Sun, 16 Jul 2017 07:11:31 +0000 http://www.hindawi.com/journals/crie/2017/6328524/ While the contributing role of testosterone to bone health is rather modest compared to other factors such as estradiol levels, male hypogonadism is associated with low bone mass and fragility fractures. Along with stimulating physical puberty by achieving virilization and a normal muscle mass and improving psychosocial wellbeing, the goals of testosterone replacement therapy in male hypogonadism also include attainment of age-specific bone mineral density. We report on a 37-year-old man who presented with multiple vertebral compression fractures several years following termination of testosterone replacement therapy for presumed constitutional delay in growth and puberty. Here, we discuss the management of congenital hypogonadotropic hypogonadism with hyposmia (Kallmann syndrome), with which the patient was ultimately diagnosed, the role of androgens in the acquisition of bone mass during puberty and its maintenance thereafter, and outline specific management strategies for patients with hypogonadism and high risk for fragility fractures. Suhaib Radi and Andrew C. Karaplis Copyright © 2017 Suhaib Radi and Andrew C. Karaplis. All rights reserved. Adrenal Ganglioneuroblastoma in Adults: A Case Report and Review of the Literature Wed, 21 Jun 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/5796236/ Incidentally discovered adrenal masses are very common given the increased number of imaging studies performed in recent years. We here report a clinical case of a 20-year-old woman who presented with left flank pain. Ultrasound examination revealed a contralateral adrenal mass, which was confirmed at computed tomography (CT) scan. Hormonal hypersecretion was excluded. Given the size (11 × 10 × 7 cm) and the uncertain nature of the mass, it was surgically removed and sent for pathological analyses. Conclusive diagnosis was ganglioneuroblastoma. Ganglioneuroblastoma is an uncommon malignant tumor, extremely rare in adults, particularly in females. This neoplasm is frequently localized in adrenal gland. Stefano Benedini, Giorgia Grassi, Carmen Aresta, Antonietta Tufano, Luca Fabio Carmignani, Barbara Rubino, Livio Luzi, and Sabrina Corbetta Copyright © 2017 Stefano Benedini et al. All rights reserved. Treatment of Nonclassic 11-Hydroxylase Deficiency with Ashwagandha Root Tue, 20 Jun 2017 06:38:07 +0000 http://www.hindawi.com/journals/crie/2017/1869560/ An elderly woman presented with acne and male pattern alopecia, which upon diagnostic evaluation was found to be due to nonclassic 11-hydroxylase deficiency. We previously reported that Ashwagandha root ameliorates nonclassic 3-β-ol dehydrogenase and aldosterone synthase deficiencies. This is the first report of its use being associated with amelioration of nonclassic 11-hydroxylase deficiency, where its apparent effects appear to be dose-related. Daniel Powell, Taiga Inoue, Gül Bahtiyar, Gabriel Fenteany, and Alan Sacerdote Copyright © 2017 Daniel Powell et al. All rights reserved. Papillary Thyroid Carcinoma: Ectopic Malignancy versus Metastatic Disease Sun, 18 Jun 2017 06:47:33 +0000 http://www.hindawi.com/journals/crie/2017/9707031/ Papillary thyroid carcinoma frequently metastasizes to regional lymph nodes. However, cervical lymph node metastasis as a sole manifestation of occult papillary thyroid carcinoma is rarely observed. Ectopic thyroid is an uncommon condition defined as the presence of thyroid tissue at a site other than pretracheal area. Approximately 1–3% of all ectopic thyroid tissue is located in the lateral neck. This entity may represent the only functional thyroid tissue in the body. Malignant transformation of ectopic thyroid is uncommon; but even rarer is the development of papillary carcinoma on it. We present a case of a 33-year-old man with an incidental lateral neck mass diagnosed after a motor vehicle accident. Total thyroidectomy and lymph node resection were completed without evidence of papillary thyroid carcinoma. Malignant transformation of heterotopic thyroid tissue was the final diagnosis. The possibility of an ectopic thyroid cancer should be considered in the differential diagnosis of a pathological mass in the neck. The uniqueness of this case strives in the rarity that the thyroid gland was free of malignancy, despite ectopic tissue being positive for thyroid carcinoma. Management strategies, including performance of total thyroidectomy, neck dissection, and treatment with radioiodine, should be based on individualized risk assessment. Yanery’s Agosto-Vargas, Madeleine Gutiérrez, José Hernán Martínez, Michelle Mangual-Garcia, Coromoto Palermo, Sharon Vélez-Maymi, Luis Hernández-Vázquez, Samayra Miranda-Rodríguez, Alex González-Bossolo, Ernesto Solá-Sánchez, and Marianne Hernández-Negrón Copyright © 2017 Yanery’s Agosto-Vargas et al. All rights reserved. Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain Tue, 06 Jun 2017 07:34:02 +0000 http://www.hindawi.com/journals/crie/2017/7898713/ McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require therapeutic support to reduce bone pain and prevent fractures and deformities. We report the case of a 27-year-old woman with MAS and severe fibrous dysplasia. She was diagnosed with MAS at 4 years of age and, during follow-up, she had multiple pathological fractures and bone pain refractory to treatment with bisphosphonates, tricyclic antidepressants, and opioids. The pain was incapacitating and the patient required a wheelchair. Intranasal calcitonin was then started, and, 30 days later, the patient already showed significant improvement in pain severity at the affected sites. After 3 months, she was able to walk without assistance. No adverse effects were observed, nor were any significant changes in serum levels of calcium, phosphorus, and alkaline phosphatase. Calcitonin has a well-recognized analgesic effect on bone tissue. Despite the small number of studies involving patients with MAS, calcitonin may be considered a short-term therapeutic option in cases of severe and refractory bone pain. Tayane Muniz Fighera and Poli Mara Spritzer Copyright © 2017 Tayane Muniz Fighera and Poli Mara Spritzer. All rights reserved. A Case of “Late” Postsurgical Hypoparathyroidism Wed, 31 May 2017 11:52:04 +0000 http://www.hindawi.com/journals/crie/2017/3962951/ Introduction. Postsurgical hypoparathyroidism normally occurs a short time after thyroid surgery in form of two clinical syndromes of different etiology and prognosis. The first is transitory and might spontaneously recover within a few weeks or months. The second is permanent and needs a definitive treatment. Only few cases of hypoparathyroidism clinically evident after many years from surgery have been reported. Case Report. A case of hypoparathyroidism clinically evident only three and a half years after surgery is reported. Our findings and review of a few cases reported by medical literature suggest the existence of a third form of postsurgical hypoparathyroidism, characterized by a late beginning. Cesar Augusto Simões, M. K. Costa, L. B. Comerlato, A. A. Ogusco, V. Araújo Filho, R. A. Dedivitis, and C. R. Cernea Copyright © 2017 Cesar Augusto Simões et al. All rights reserved. Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum Tue, 30 May 2017 07:36:01 +0000 http://www.hindawi.com/journals/crie/2017/4271978/ Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height. Meredith Wasserman, Erin M. Mulvihill, Angela Ganan-Soto, Serife Uysal, and Jose Bernardo Quintos Copyright © 2017 Meredith Wasserman et al. All rights reserved. Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor Tue, 23 May 2017 07:08:32 +0000 http://www.hindawi.com/journals/crie/2017/3905905/ We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D). Preneet Cheema Brar, Elena Dingle, John Pappas, and Manish Raisingani Copyright © 2017 Preneet Cheema Brar et al. All rights reserved. Humoral Hypercalcemia of Malignancy with a Parathyroid Hormone-Related Peptide-Secreting Intrahepatic Cholangiocarcinoma Accompanied by a Gastric Cancer Wed, 10 May 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/7012520/ Humoral hypercalcemia of malignancy (HHM) is caused by the oversecretion of parathyroid hormone-related peptide (PTHrP) from malignant tumors. Although any tumor may cause HHM, that induced by intrahepatic cholangiocarcinoma (ICC) or gastric cancer (GC) is rare. We report here a 74-year-old male who displayed HHM with both ICC and GC and showed an elevated serum PTHrP level. Treatment of the hypercalcemia with saline, furosemide, elcatonin, and zoledronic acid corrected his serum calcium level and improved symptoms. Because treatment of ICC should precede that of GC, we chose chemotherapy with cisplatin (CDDP) and gemcitabine (GEM). Chemotherapy reduced the size of the ICC and decreased the serum PTHrP level. One year after diagnosis, the patient was alive in the face of a poor prognosis for an ICC that produced PTHrP. Immunohistochemical staining for PTHrP was positive for the ICC and negative for the GC, leading us to believe that the cause of the HHM was a PTHrP-secreting ICC. In conclusion, immunohistochemical staining for PTHrP may be useful in discovering the cause of HHM in the case of two cancers accompanied by an elevated serum PHTrP level. Chemotherapy with CDDP and GEM may be the most appropriate treatment for a PTHrP-secreting ICC. Katsushi Takeda, Ryosuke Kimura, Nobuhiro Nishigaki, Shinya Sato, Asami Okamoto, Kumiko Watanabe, and Sachie Yasui Copyright © 2017 Katsushi Takeda et al. All rights reserved. Locally Advanced Thyroglossal Duct Cyst Carcinoma Presenting as a Neck Mass Tue, 09 May 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/7014313/ Thyroglossal duct cyst carcinoma is rare and occurs in just 1% of cases with thyroglossal duct cysts. It is not always possible to distinguish a thyroglossal cyst harboring malignancy from its benign counterparts unless biopsied, thus posing the dilemma. Currently there is no clear consensus on the optimal management of thyroglossal duct cyst carcinoma. Here we present the case of a 69-year-old female who presented with a midline neck mass and dysphagia and was found to have papillary thyroid cancer in the biopsy specimen of the neck mass. She underwent excision of the mass and the thyroglossal duct cyst along with total thyroidectomy; however, the thyroidectomy specimen showed no malignancy. Her lymph node mapping was negative and she is awaiting radioactive iodine treatment. Niranjan Tachamo, Brian Le, Jeffrey Driben, and Vasudev Magaji Copyright © 2017 Niranjan Tachamo et al. All rights reserved. Myxedema Crisis Presenting with Seizures: A Rare Life-Threatening Presentation—A Case Report and Review of the Literature Tue, 02 May 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/4285457/ Myxedema crisis is a life-threatening extreme form of hypothyroidism with a high mortality rate if left untreated. Myxedema crisis is commonly seen in older patients, especially in women, and is associated with signs of hypothyroidism, hypothermia, hyponatraemia, hypercarbia, and hypoxemia. Patients might present with different organ specific symptoms. Seizures are a recognized but rare manifestation of myxedema with a very high mortality rate. Prompt diagnosis and appropriate management may improve the prognosis. Many contributory factors may involve development of seizures in a patient with myxedema. Hyponatraemia is one such cause, which is seen in moderate-severe form in the background of myxedema. We report an elderly male who presented with generalized tonic clonic seizure preceded by memory impairment and drowsiness. He had moderate hyponatraemia and very high thyroid stimulatory hormone levels in association with low free thyroxin levels. Diagnosis of myxedema crisis was made and patient was successfully treated with sodium correction and thyroid hormone replacement. Sonali Sihindi Chapa Gunatilake and Uditha Bulugahapitiya Copyright © 2017 Sonali Sihindi Chapa Gunatilake and Uditha Bulugahapitiya. All rights reserved. Hypocalciuric Hypercalcemia due to Impaired Renal Tubular Calcium Excretion in a Type 2 Diabetic Patient Tue, 11 Apr 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/3694868/ The case we presented here was a 73-year-old gentleman, who was admitted to endocrinology department due to recurrent fatigue for 1 year. He had medical histories of type 2 diabetes for 18 years and developed CKD 4 years ago. He also suffered from dilated cardiomyopathy, and coronary heart disease, moderate sleep apnea syndrome, primary hypothyroidism, and gout. His treatment regimen was complicated which included Caltrate D and compound α-keto acid (1200 mg calcium/d). Laboratory examination revealed that his serum calcium level elevated, 24-hour urine calcium output decreased, PTH level was suppressed, and 25-hydroxyvitamin D was in normal low range. No other specific abnormalities were found in serum bone turnover markers, ultrasonography, computed tomography, and bone scintigraphy. The diagnosis was suggested to be hypocalciuric hypercalcemia but was different from familial or acquired hypocalciuric hypercalcemia which were featured by elevated PTH level. The patient was asked to restrict calcium intake and to take diuretics; then his serum calcium level gradually lowered. In brief, patients with CKD could present with hypocalciuric hypercalcemia due to impaired renal calcium excretion. In this case, calcium restriction should be applied for treatment. Sihao Yang, Yan Ren, Xi Li, Haoming Tian, Zhenmei An, and Tao Chen Copyright © 2017 Sihao Yang et al. All rights reserved. Anaplastic Spindle Cell Squamous Carcinoma Arising from Tall Cell Variant Papillary Carcinoma of the Thyroid Gland: A Case Report and Review of the Literature Thu, 06 Apr 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/4581626/ Tall cell variant (TCV) of papillary thyroid carcinoma (PTC), an aggressive form of thyroid cancer, is characterised by 50% of cells with height that is three times greater than the width. Very rarely, some of these cancers can progress to spindle cell squamous carcinoma (SCSC) resulting in cancers with elements of both SCSC and TCV PTC. Here we report a case of SCSC arising from TCV PTC. In addition to this case, we have performed a literature review and compiled all published reports of SCSC arising from TCV PTC, including the nature of treatment and the prognosis for each of the 20 patients recorded. This is intended for use as a guide for clinicians in what the most appropriate treatment options may be for a newly diagnosed patient. Due to the rarity coupled with diagnosis occurring at a very advanced stage of disease progression, performing clinical trials is difficult and therefore drawing conclusions on optimal treatment methods remains a challenge. Darren K. Patten, Alia Ahmed, Owain Greaves, Roberto Dina, Rashpal Flora, and Neil Tolley Copyright © 2017 Darren K. Patten et al. All rights reserved. A Normotensive Patient with Primary Aldosteronism Sun, 02 Apr 2017 09:12:45 +0000 http://www.hindawi.com/journals/crie/2017/5159382/ This study was to report a case of normotensive patient with primary aldosteronism who was admitted to our department recently. The patient was a 33-year-old male with right adrenal incidentaloma, but without any symptom. He has no history of hypertension, and blood pressure was normal when measured at multiple time points during hospitalization stay. The 24-hour ambulatory blood pressure prompted a normal blood pressure with the existence of circadian rhythm. The patient was diagnosed with primary aldosteronism by screening and confirmatory test. Due to the absence of symptom, surgery was not preferred. Blood pressure was found to be normal with the 2-month follow-up from discharge until now. Xiao Lin, Xiaoyu Miao, Pengli Zhu, and Fan Lin Copyright © 2017 Xiao Lin et al. All rights reserved. A Rare Complication following Thyroid Percutaneous Ethanol Injection: Plummer Adenoma Wed, 29 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/1026139/ Percutaneous ethanol injection (PEI) is a technique used only for benign thyroid nodules, cystic or mixed cystic-solid with a large fluid component. It is a quite low-cost, safe, and outpatient method of treatment. Rare and severe complications have been described after PEI: jugular vein thrombosis and severe ethanol toxic necrosis of the larynx combined with necrotic dermatitis. Moreover, only four thyrotoxicosis cases due to Graves’ disease have been reported. We report a case of 58-year-old female with a voluminous thyroid cystic nodule, occupying almost the entire left thyroid lobe. Our patient had already performed surgical visit and intervention of thyroidectomy had been proposed to her, which she refused. At baseline, our patient has a normal thyroid function with negative autoantibodies. According to the nodular structure, intervention of PEI has been performed with a significant improvement of compressive symptoms and cosmetic disorders. About 30 days after treatment, there was a significant volume reduction, but patient developed an acclaimed symptomatic thyrotoxicosis. After ruling out several causes of hyperthyroidism and according to the thyroid scintigraphy findings, we made the diagnosis of Plummer adenoma. To our knowledge, our patient is the first case of Plummer adenoma following PEI treatment of nontoxic thyroid nodule. Roberto Cesareo, Anda Mihaela Naciu, Valerio Pasqualini, Giuseppe Pelle, Silvia Manfrini, Gaia Tabacco, Angelo Lauria Pantano, Alessandro Casini, Roberto Cianni, and Andrea Palermo Copyright © 2017 Roberto Cesareo et al. All rights reserved. Normalization of Bilateral Adrenal Gland Enlargement after Treatment for Cryptococcosis Sun, 26 Mar 2017 08:30:41 +0000 http://www.hindawi.com/journals/crie/2017/1543149/ Cryptococcosis usually occurs in immunocompromised patients and can cause enlargement of the adrenal glands, although the morphologic changes after treatment have not been reported in detail. We report the case of 24-year-old man with fevers, headaches, and impaired consciousness who had been treated with glucocorticoids for a protein-losing gastroenteropathy. The cerebrospinal fluid analysis revealed cryptococcal meningitis. Computed tomography showed bilateral adrenal enlargement. A retrospective analysis revealed that the enlargement had been detected 5 months before admission and gradually increased. The enlargement was improved with antifungal therapy and normalized 6 months later. This is the first report describing morphological changes in the adrenal glands associated with cryptococcal meningitis. Adrenal enlargement by cryptococcosis can be improved without any abnormal findings, including calcifications, which may be a unique characteristic from other diseases, including tuberculosis. Yuka Muraoka, Shintaro Iwama, and Hiroshi Arima Copyright © 2017 Yuka Muraoka et al. All rights reserved. Usefulness of Stereotactic Radiotherapy Using CyberKnife for Recurrent Lymph Node Metastasis of Differentiated Thyroid Cancer Wed, 15 Mar 2017 07:59:50 +0000 http://www.hindawi.com/journals/crie/2017/7956726/ A woman in her 60s presented with a recurrent lymph node metastasis from a papillary thyroid carcinoma in the right parapharyngeal space. She had already undergone total thyroidectomy, five resections for cervical lymph node metastases, and right carotid rebuilding. Surgical resection of the current metastasis was impossible. 131I-radioiodine therapy (RIT) with 3.7 GBq 131I was not effective; therefore, stereotactic radiation therapy (SRT) using a CyberKnife radiotherapy system was scheduled. The prescription dose was 21 Gy, and a dose covering 95% of the planning target volume (PTV) in three fractions was administered. The PTV was 4,790 mm3. Follow-up magnetic resonance imaging conducted 3 and 12 months after the SRT demonstrated a remarkable and gradual reduction of the recurrent lymph node metastasis in the right parapharyngeal space and no evidence of recurrence. For multidisciplinary therapy of unresectable and/or RIT unresponsive locoregional lymph node metastases and recurrences of DTC, SRT using the CyberKnife system should be considered. Joji Kawabe, Shigeaki Higashiyama, Mitsuharu Sougawa, Atsushi Yoshida, Kohei Kotani, and Susumu Shiomi Copyright © 2017 Joji Kawabe et al. All rights reserved. Psychological Aspects of Androgen Insensitivity Syndrome: Two Cases Illustrating Therapeutical Challenges Sun, 12 Mar 2017 09:12:08 +0000 http://www.hindawi.com/journals/crie/2017/8313162/ Androgen Insensitivity Syndrome (AIS) and its heterogeneous phenotypes comprise the pieces of a challenging clinical problem. The lack of standardized guidelines results in controversies regarding the proper diagnostic and therapeutic approach, including the time and type of intervention. Due to its variable phenotype, AIS is not diagnosed at the proper age that would allow optimal psychological and medical support to the patient. Therapeutic approaches are not established, mainly due to the rarity of the disease. In addition, various social and ethical consequences may emerge. The aim of this double case report is to outline the difficulties that may rise during diagnostic, therapeutic, and psychological approach of AIS, especially concerning the handling of the relatives’ reaction. Filippa Pritsini, Georgios A. Kanakis, Ioannis Kyrgios, Eleni P. Kotanidou, Eleni Litou, Konstantina Mouzaki, Aggeliki Kleisarchaki, Dimitrios G. Goulis, and Assimina Galli-Tsinopoulou Copyright © 2017 Filippa Pritsini et al. All rights reserved. A Rapid Biochemical and Radiological Response to the Concomitant Therapy with Temozolomide and Radiotherapy in an Aggressive ACTH Pituitary Adenoma Sun, 05 Mar 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/2419590/ Background and Importance. In the last eight years temozolomide (TMZ) has been used as the last-line treatment modality for aggressive pituitary tumors to be applied after the failure of surgery, medical therapy, and radiotherapy. The objective was to achieve a rapid control of tumor growth and hormone normalization with concurrent chemoradiotherapy in a patient with very aggressive ACTH pituitary adenoma. Clinical Presentation. We describe a patient with an aggressive ACTH-producing adenoma treated with concurrent temozolomide and radiotherapy. The patient suffered from an aggressive ACTH adenoma resistant to surgical and medical treatment. After two months of concurrent temozolomide and radiotherapy, cortisol normalization and significant tumor shrinkage were observed. After 22 months of follow-up, there is still no evidence of tumor recurrence. Conclusion. Concurrent treatment with temozolomide and irradiation appears to be highly effective in the achievement of the tumor volume control as well as in the control of ACTH secretion in aggressive ACTH adenoma. Ana Misir Krpan, Tina Dusek, Zoran Rakusic, Mirsala Solak, Ivana Kraljevic, Vesna Bisof, David Ozretic, and Darko Kastelan Copyright © 2017 Ana Misir Krpan et al. All rights reserved. Addison’s Disease and Possible Cannabis Withdrawal Syndrome Presenting as an Eating Disorder in a Thirty-Year-Old Female Wed, 01 Mar 2017 09:43:47 +0000 http://www.hindawi.com/journals/crie/2017/4096021/ A 30-year-old female with a history of anxiety, cannabis use, and Avoidant/Restrictive Food Intake Disorder presented for residential treatment of a Cannabis Use Disorder. Upon arrival, she had not eaten for two days and was found to be hypotensive with electrolyte disturbances. She was admitted to a nearby hospital, where the Internist diagnosed her with Addison’s disease. She was treated with corticosteroid therapy, with rapid normalization of her electrolytes, eating, and anxiety. This is the first published case of undiagnosed Addison’s disease presenting as an eating disorder, with cannabis use likely contributing to symptoms. This case elucidates the importance of ruling out other biologic and psychologic causes of clinical presentations before an eating disorder diagnosis can be made. Kimberly Lazare Copyright © 2017 Kimberly Lazare. All rights reserved. Atypical Complications of Graves’ Disease: A Case Report and Literature Review Tue, 28 Feb 2017 07:32:59 +0000 http://www.hindawi.com/journals/crie/2017/6087135/ Graves’ disease (GD) may display uncommon manifestations. We report a patient with rare complications of GD and present a comprehensive literature review. A 35-year-old woman presented with a two-week history of dyspnea, palpitations, and edema. She had a raised jugular venous pressure, goiter, and exophthalmos. Laboratory tests showed pancytopenia, a raised alkaline phosphatase level, hyperbilirubinemia (mainly direct bilirubin), and hyperthyroidism [TSH: <0.01 mIU/L (reference values: 0.45–4.5), fT4: 54.69 pmol/L (reference values: 9.0–20.0), and fT3: >46.08 pmol/L (reference values: 2.6–5.7)]. Her thyroid uptake scan indicated GD. Echocardiography showed a high right ventricular systolic pressure: 60.16 mmHg. Lugol’s iodine, propranolol, cholestyramine, and dexamethasone were initiated. Hematologic investigations uncovered no reason for the pancytopenia; therefore, carbimazole was started. Workup for hepatic impairment and pulmonary hypertension (PH) was negative. The patient became euthyroid after 3 months. Leukocyte and platelet counts and bilirubin levels normalized, and her hemoglobin and alkaline phosphatase levels and right ventricular systolic pressure (52.64 mmHg) improved. This is the first reported single case of GD with the following three rare manifestations: pancytopenia, cholestatic liver injury, and PH with right-sided heart failure. With antithyroid drugs treatment, pancytopenia should resolve with euthyroidism, but PH and liver injury may take several months to resolve. Khaled Ahmed Baagar, Mashhood Ahmed Siddique, Shaimaa Ahmed Arroub, Ahmed Hamdi Ebrahim, and Amin Ahmed Jayyousi Copyright © 2017 Khaled Ahmed Baagar et al. All rights reserved. Pituitary Adenoma and Hyperprolactinemia Accompanied by Idiopathic Granulomatous Mastitis Wed, 22 Feb 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/3974291/ Idiopathic granulomatous mastitis (IGM) is a rare chronic inflammatory disease of the breast, and its etiology remains not fully elucidated. IGM is observed more often in patients with autoimmune disease. Hyperprolactinemia is observed during pregnancy, lactation, and a history of oral contraceptive use. A 39-year-old patient with no history of oral contraceptive use presented with complaints such as redness, pain, and swelling in her left breast. Ultrasound and magnetic resonance imaging (MRI) revealed a suspicious inflamed mass lesion. Core biopsy was performed to exclude breast cancer and to further diagnose. The breast abscess was drained and steroids were given for treatment. In order to monitor any progression during the three months of treatment, hormone levels were routinely examined. Prolactin level was above the reference range, and pituitary MRI revealed a pituitary prolactinoma. After treatment with prolactin inhibitors, IGM also improved with hyperprolactinemia. This report emphasizes attention to hyperprolactinemia in cases of IGM diagnosis and treatment. Sebahattin Destek, Vahit Onur Gul, Serkan Ahioglu, and Kursat Rahmi Serin Copyright © 2017 Sebahattin Destek et al. All rights reserved. Simultaneous Papillary Carcinoma in Thyroglossal Duct Cyst and Thyroid Wed, 08 Feb 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/8541078/ Thyroglossal duct cyst (TDC) is a cystic expansion of a remnant of the thyroglossal duct tract. Carcinomas in the TDC are extremely rare and are usually an incidental finding after the Sistrunk procedure. In this report, an unusual case of a 36-year-old woman with concurrent papillary thyroid carcinoma arising in the TDC and on the thyroid gland is presented, followed by a discussion of the controversies surrounding the possible origins of a papillary carcinoma in the TDC, as well as the current management options. Gustavo Cancela e Penna, Henrique Gomes Mendes, Adele O. Kraft, Cynthia Koeppel Berenstein, Bernardo Fonseca, Wagner José Martorina, Andreise Laurian N. R. de Souza, Gustavo Meyer de Moraes, Kamilla Maria Araújo Brandão Rajão, and Bárbara Érika Caldeira Araújo Sousa Copyright © 2017 Gustavo Cancela e Penna et al. All rights reserved. False Positive Findings on I-131 WBS and SPECT/CT in Patients with History of Thyroid Cancer: Case Series Thu, 26 Jan 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/8568347/ Introduction. Although whole body scan (WBS) with I-131 is a highly sensitive tool for detecting normal thyroid tissue and metastasis of differentiated thyroid cancer (DTC), it is not specific. Additional information, provided by single photon emission computed tomography combined with X-ray computed tomography (SPECT/CT) and by the serum thyroglobulin level, is extremely useful for the interpretation of findings. Case Presentation. We report four cases of false positive WBS in patients with DTC: ovarian uptake corresponding to an endometrioma, scrotal uptake due to a spermatocele, rib-cage uptake due to an old fracture, and hepatic and renal uptake secondary to a granuloma and simple cyst, respectively. Conclusions. Trapping, organification, and storage of iodine are more prominent in thyroid tissue but not specific. Physiologic sodium-iodine symporter expression in other tissues explains some, but not all, of the WBS false positive cases. Other proposed etiologies are accumulation of radioiodine in inflamed organs, metabolism of radiodinated thyroid hormone, presence of radioiodine in body fluids, and contamination. In our cases nonthyroidal pathologies were suspected since the imaging findings were not corroborated by an elevated thyroglobulin level, which is considered a reliable tumor marker for most well-differentiated thyroid cancers. Clinicians should be aware of the potential pitfalls of WBS in DTC to avoid incorrect management. Zeina C. Hannoush, Juan D. Palacios, Russ A. Kuker, and Sabina Casula Copyright © 2017 Zeina C. Hannoush et al. All rights reserved. Hypercalcemia of Malignancy in Thymic Carcinoma: Evolving Mechanisms of Hypercalcemia and Targeted Therapies Thu, 12 Jan 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/2608392/ Here we describe, to our knowledge, the first case where an evolution of mechanisms responsible for hypercalcemia occurred in undifferentiated thymic carcinoma and discuss specific management strategies for hypercalcemia of malignancy (HCM). Case Description. We report a 26-year-old male with newly diagnosed undifferentiated thymic carcinoma associated with HCM. Osteolytic metastasis-related hypercalcemia was presumed to be the etiology of hypercalcemia that responded to intravenous hydration and bisphosphonate therapy. Subsequently, refractory hypercalcemia persisted despite the administration of bisphosphonates and denosumab indicative of refractory hypercalcemia. Elevated 1,25-dihydroxyvitamin D was noted from the second admission with hypercalcemia responding to glucocorticoid administration. A subsequent PTHrP was also elevated, further supporting multiple mechanistic evolution of HCM. The different mechanisms of HCM are summarized with the role of tailoring therapies based on the particular mechanism underlying hypercalcemia discussed. Conclusion. Our case illustrates the importance of a comprehensive initial evaluation and reevaluation of all identifiable mechanisms of HCM, especially in the setting of recurrent and refractory hypercalcemia. Knowledge of the known and possible evolution of the underlying mechanisms for HCM is important for application of specific therapies that target those mechanisms. Specific targeting therapies to the underlying mechanisms for HCM could positively affect patient outcomes. Cheng Cheng, Jose Kuzhively, and Sanford Baim Copyright © 2017 Cheng Cheng et al. All rights reserved. Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years Mon, 09 Jan 2017 14:47:38 +0000 http://www.hindawi.com/journals/crie/2017/4709262/ Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was diagnosed with CHI. Heterozygosity of exon 6 c.590T>C (p.M197T) was identified in a gene analysis of GCK, which was also detected in her son and herself. The identification of GCK-activating mutations in hyperinsulinemic hypoglycemia patients may be useful for a deeper understanding of the pathophysiology involved and preventing unnecessary glucocorticoid therapy. Kae Morishita, Chika Kyo, Takako Yonemoto, Rieko Kosugi, Tatsuo Ogawa, and Tatsuhide Inoue Copyright © 2017 Kae Morishita et al. All rights reserved.