Case Reports in Endocrinology The latest articles from Hindawi Publishing Corporation © 2015 , Hindawi Publishing Corporation . All rights reserved. Nonclassical Congenital Adrenal Hyperplasia and Pregnancy Thu, 08 Oct 2015 09:43:26 +0000 Objective. The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase (21-OH) deficiency due to mutation of the CYP21A2 gene. Patients with nonclassical CAH (NC-CAH) are usually asymptomatic at birth and typically present in late childhood, adolescence, or adulthood with symptoms of excessive androgen secretion. Subfertility is relative in NC-CAH, but the incidence of spontaneous miscarriage is higher. Here, we report a previously undiagnosed female who gave birth to a normal male child and is planning to become pregnant again. Case Report. A 32-year-old female was referred to our clinic for obesity. Her medical history revealed that she had had three pregnancies. She was planning to become pregnant again. Her laboratory results revealed that she had NC-CAH. Since her husband is the son of her aunt and she had miscarriages and intrauterin exitus in her history, their genetic analyses were performed. Conclusion. Since most patients with NC-CAH have a severe mutation, these patients may give birth to a child with the classical CAH (C-CAH) if their partner is also carrying a severe mutation. Females with NC-CAH who desire pregnancy must be aware of the risk of having an infant with C-CAH. Neslihan Cuhaci, Cevdet Aydın, Ahmet Yesilyurt, Ferda Alpaslan Pınarlı, Reyhan Ersoy, and Bekir Cakir Copyright © 2015 Neslihan Cuhaci et al. All rights reserved. Management of Refractory Noninsulinoma Pancreatogenous Hypoglycemia Syndrome with Gastric Bypass Reversal: A Case Report and Review of the Literature Wed, 07 Oct 2015 11:19:08 +0000 Background. Roux-en-Y gastric bypass (RYGB) is a commonly performed, effective bariatric procedure; however, rarely, complications such as postprandial hypoglycemia due to noninsulinoma pancreatogenous hypoglycemia syndrome (NIPHS) may ensue. Management of refractory NIPHS is challenging. We report a case that was successfully treated with RYGB reversal. Case Report. A 58-year-old male with history of RYGB nine months earlier for morbid obesity presented for evaluation of postprandial, hypoglycemic seizures. Testing for insulin level, insulin antibodies, oral hypoglycemic agents, pituitary axis hormone levels, and cortisol stimulation was unrevealing. Computed tomography (CT) scan of the abdomen was unremarkable. A 72-hour fast was completed without hypoglycemia. Mixed meal testing demonstrated endogenous hyperinsulinemic hypoglycemia (EHH) and selective arterial calcium stimulation testing (SACST) was positive. Strict dietary modifications, maximal medical therapy, gastrostomy tube feeding, and stomal reduction failed to alleviate symptoms. Ultimately, he underwent laparoscopic reversal of RYGB. Now, 9 months after reversal, he has markedly reduced hypoglycemia burden. Discussion. Hyperfunctioning islets secondary to exaggerated incretin response and altered intestinal nutrient delivery are hypothesized to be causative in NIPHS. For refractory cases, there is increasing skepticism about the safety and efficacy of pancreatic resection. RYGB reversal may be successful. Bhavana B. Rao, Benjamin Click, George Eid, and Ronald A. Codario Copyright © 2015 Bhavana B. Rao et al. All rights reserved. Calcitonin-Secreting Neuroendocrine Carcinoma of Larynx with Metastasis to Thyroid Mon, 28 Sep 2015 08:00:16 +0000 Primary neuroendocrine tumors of the larynx are rare, with moderately differentiated neuroendocrine carcinoma (MDNC) being the most frequent histologic type. We report a MDNC in a 57-year-old gentleman with an enlarging right-sided neck mass. Flexible fiberoptic exam revealed a right arytenoid lesion. Histology from excisional biopsy was concerning for medullary thyroid carcinoma (MTC) versus NET of the larynx. Immunohistochemistry was diffusely positive for calcitonin and CEA and focally positive for TTF-1. Serum calcitonin was elevated. Thyroid ultrasound was unremarkable. The patient underwent laryngectomy, thyroidectomy, and neck dissection. Pathology showed neuroendocrine carcinoma of right arytenoid with positive cervical lymph nodes. A 4 mm deposit of NET was present in right thyroid with adjacent intravascular tumor consistent with thyroidal metastasis from a primary laryngeal NET (MDNC). MDNC and MTC can be microscopically indistinguishable. Both tumors can stain positively for calcitonin and CEA. TTF-1 staining has been useful to help distinguish these tumors as it is strongly and diffusely positive in MTC, but usually negative (or only focally positive) in MDNC. We report the fourth case of primary neuroendocrine carcinoma of the larynx associated with elevated serum calcitonin level and the first such case associated with metastasis to the thyroid. Lauren LaBryer, Ravindranauth Sawh, Colby McLaurin, and R. Hal Scofield Copyright © 2015 Lauren LaBryer et al. All rights reserved. Lithium as an Alternative Option in Graves Thyrotoxicosis Sun, 06 Sep 2015 07:40:04 +0000 A 67-year-old woman was admitted with signs and symptoms of Graves thyrotoxicosis. Biochemistry results were as follows: TSH was undetectable; FT4 was >6.99 ng/dL (0.7–1.8); FT3 was 18 pg/mL (3–5); TSI was 658% (0–139). Thyroid uptake and scan showed diffusely increased tracer uptake in the thyroid gland. The patient was started on methimazole 40 mg BID, but her LFTs elevated precipitously with features of fulminant hepatitis. Methimazole was determined to be the cause and was stopped. After weighing pros and cons, lithium was initiated to treat her persistent thyrotoxicosis. Lithium 300 mg was given daily with a goal to maintain between 0.4 and 0.6. High dose Hydrocortisone and propranolol were also administered concomitantly. Free thyroid hormone levels decreased and the patient reached a biochemical and clinical euthyroid state in about 8 days. Though definitive RAI was planned, the patient has been maintained on lithium for more than a month to control her hyperthyroidism. Trial removal of lithium results in reemergence of thyrotoxicosis within 24 hours. Patient was maintained on low dose lithium treatment with lithium level just below therapeutic range which was sufficient to maintain euthyroid state for more than a month. There were no signs of lithium toxicity within this time period. Conclusion. Lithium has a unique physiologic profile and can be used to treat thyrotoxicosis when thionamides cannot be used while awaiting elective radioablation. Lithium levels need to be monitored; however, levels even at subtherapeutic range may be sufficient to treat thyrotoxicosis. Ishita Prakash, Eric Sixtus Nylen, and Sabyasachi Sen Copyright © 2015 Ishita Prakash et al. All rights reserved. Recurrent Episodes of Thyrotoxicosis in a Man following Pregnancies of his Spouse with Hashimoto’s Thyroiditis Tue, 01 Sep 2015 09:56:58 +0000 Over an 8-year period, a male patient presented three times to an endocrinologist with strikingly similar presentations, including palpitations, anxiety, and tremors. Each of his presentations occurred following either the birth of one of his two children or his wife’s late termination of pregnancy. This patient’s illness followed the typical time course of silent thyroiditis: hyperthyroidism, followed by euthyroidism, a late hypothyroid phase, and then a complete resolution of symptoms and normalization of thyroid function tests over a period of several months. We discuss the curious clinical presentation, diagnostic evaluation, and a literature review of alternate explanations for this patient’s condition, including a discussion of the impact of seasonal shift, spousal’s autoimmune disease, stress, and evolutionary changes in males postpartum. Although the differential diagnosis is broad in this case and the thyrotoxicosis could have coincidentally followed pregnancies of the patient’s wife, documented hormonal changes in men during postpartum period in conjunction with the timeline of the patient’s condition are suggestive of recurrent “sympathetic” postpartum thyroiditis. To our knowledge, this is the first case report of recurrent painless thyroiditis in a man following pregnancies of his wife with Hashimoto’s thyroiditis. Regina Belokovskaya and Alice C. Levine Copyright © 2015 Regina Belokovskaya and Alice C. Levine. All rights reserved. Chylous Ascites: A Rare Adverse Effect of Methimazole Treatment for Grave’s Disease—A Case Report and Review of the Literature Sun, 23 Aug 2015 11:03:05 +0000 A 40-year-old woman was admitted due to an urticarial rash that was attributed to recent onset of methimazole treatment for a diagnosis of Grave’s disease. The patient had no prior significant medical history and used no medications, including over-the-counter or herbal medications. Her sister had Grave’s disease. On admission, the patient received corticosteroids with improvement in her rash. On the second day of the hospitalization, the patient complained of abdominal discomfort. Abdominal ultrasound revealed a large amount of new onset ascites. Peritoneal tap yielded a milky fluid with high triglyceride level (12.2 mmol/L or 1080 mg/dL), consistent with chylous ascites. After discontinuation of the methimazole, the ascites disappeared. The patient later underwent therapeutic thyroidectomy, after which all features of thyrotoxicosis had improved. Tawfik Khoury and Ronen Schneider Copyright © 2015 Tawfik Khoury and Ronen Schneider. All rights reserved. Acute-on-Chronic Kidney Injury in Thyroid Hormone Withdrawal: A Case with Possible Implications for Radioactive Iodine Planning Sun, 16 Aug 2015 12:14:33 +0000 The association between renal dysfunction and hypothyroidism is of increasing clinical importance as thyroid hormone replacement may attenuate decline in renal function and improve cardiovascular outcomes in patients with chronic kidney disease (CKD). Although multiple mechanisms for the induction of renal insufficiency in hypothyroidism have been described, the renal impact of short-term, acute hypothyroidism is unknown, which has possible implications for thyroid cancer patients preparing to receive radioactive iodine (RAI). A 56-year-old gentleman with history of unilateral renal agenesis and CKD stage III presented with intermediate-risk papillary thyroid cancer. In preparation for RAI, he underwent thyroid hormone withdrawal (THW) associated with acute kidney injury (AKI), as marked by a decrease in his estimated GFR from 53 to 32 mL/min/1.73 m2. Upon resumption of thyroid hormone, renal function returned to baseline within months. Although AKI in this case was not otherwise associated with adverse outcome and reversed upon resumption of thyroid hormone, it is possible that this phenomenon could result in potential harm, particularly in the patient with baseline renal insufficiency. In CKD patients, preparation for RAI therapy may require special consideration; future studies should address the role of recombinant TSH to mitigate deleterious renal effects of acute hypothyroidism in this setting. Elizabeth A. McAninch and Violet S. Lagari Copyright © 2015 Elizabeth A. McAninch and Violet S. Lagari. All rights reserved. Development of Agranulocytosis after Discontinuation of Methimazole: An Unusual Case Mon, 03 Aug 2015 16:35:53 +0000 Agranulocytosis is a rare and critical adverse effect of antithyroid drugs (ATD). The occurrence of agranulocytosis in continuous ATD treatment patients is well known; however, a case of ATD agranulocytosis occurring following the discontinuation of methimazole (MMI) treatment is not a usual situation. We herein describe a case of a 41-year-old woman who was previously administered methimazole (MMI) for ten days and developed ATD-induced agranulocytosis and symptoms of an upper respiratory tract infection after three weeks following discontinuation of MMI treatment. A thorough hematologic and serological evaluation did not disclose an alternative cause for the agranulocytosis. After receiving empirical antibiotic treatment, she responded successfully with clinical improvement of her symptoms and resolved neutropenia on the seventh day. This case is atypical because agranulocytosis developed after discontinuation of MMI, which strengthens the importance of remaining alert for signs of agranulocytosis even after discontinuation of ATD treatment. Rıfkı Üçler, Murat Atmaca, Ömer Candar, Murat Alay, Burhan Göy, Erdal Kara, Mahfuz Turan, and Yusuf Demir Copyright © 2015 Rıfkı Üçler et al. All rights reserved. Dipeptidyl Peptidase-4 Inhibition May Stimulate Progression of Carcinoid Tumor Tue, 28 Jul 2015 09:21:42 +0000 Dipeptidyl peptidase-4 (DPP-4) inhibitors, such as saxagliptin, have gained a rapid growth in use in the treatment of type 2 diabetes mellitus in the past decade. Although they are considered to have a good safety profile, controversy exists regarding their potential to stimulate neoplasm growth. We report here a patient with metastatic carcinoid tumor. His disease was stable for several years with plasma serotonin level (which was used to monitor disease progression) in 700–800 ng/mL range. After initiation of treatment with saxagliptin, however, his serotonin level almost doubled (1358 ng/mL), concerning progression of the disease. After discontinuation of saxagliptin, serotonin level returned to baseline quickly, while other laboratory markers, such as complete blood count (CBC), comprehensive metabolic profile (CMP) with liver function tests (LFTs), and lactate dehydrogenase (LD), remained unchanged before, during, and after the treatment with saxagliptin. This temporal correlation suggests a possible interaction between the activity of carcinoid tumors and the use of DPP-4 inhibitors. Although we were not able to find any literature providing a direct evidence that saxagliptin alters progression of the carcinoid tumors, we recommend alternative management for the treatment of diabetes in patients with carcinoid or other neuroendocrine tumors. Vladimir Pech, Khalid Abusaada, and Carlos Alemany Copyright © 2015 Vladimir Pech et al. All rights reserved. A Rare Presentation of Transfusional Hemochromatosis: Hypogonadotropic Hypogonadism Tue, 21 Jul 2015 14:19:02 +0000 Hemochromatosis is a disease caused by extraordinary iron deposition in parenchymal cells leading to cellular damage and organ dysfunction. β-thalassemia major is one of the causes of secondary hemochromatosis due to regular transfusional treatment for maintaining adequate levels of hemoglobin. Hypogonadism is one of the potential complications of hemochromatosis, usually seen in patients with a severe iron overload, and it shows an association with diabetes and cirrhosis in adult patients. We describe a patient with mild transfusional hemochromatosis due to β-thalassemia major, presenting with central hypogonadism in the absence of cirrhosis or diabetes. Our case showed an atypical presentation with hypogonadotropic hypogonadism without severe hyperferritinemia, cirrhosis, or diabetes. With this case, we aim to raise awareness of hypogonadotropic hypogonadism in patients with intensive transfused thalassemia major even if not severe hemochromatosis so that hypogonadism related complications, such as osteoporosis, anergia, weakness, sexual dysfunction, and infertility, could be more effectively managed in these patients. Rifki Ucler, Erdal Kara, Murat Atmaca, Sehmus Olmez, Murat Alay, Yaren Dirik, and Aydin Bora Copyright © 2015 Rifki Ucler et al. All rights reserved. Early Onset Primary Hyperparathyroidism Associated with a Novel Germline Mutation in CDKN1B Tue, 14 Jul 2015 09:13:31 +0000 Individuals presenting with primary hyperparathyroidism (PHPT) at a young age commonly have an underlying germline gene mutation in one of the following genes: MEN1, CASR, or CDC73. A small number of families with primary hyperparathyroidism have been identified with germline mutations in CDKN1B and those patients with primary hyperparathyroidism have almost exclusively been women who present in middle age suggesting that the age of onset of PHPT in MEN4 may be later than that of MEN1. We present a case of apparently sporadic PHPT presenting in adolescence with single gland disease associated with a novel CDKN1B germline mutation (heterozygote for a missense mutation in exon 1 of the CDKN1B gene (c.378G>C) (p.E126D)). The implication from this case is that CDKN1B germline mutations may be associated with PHPT at an earlier age than previously thought. Marianne S. Elston, Goswin Y. Meyer-Rochow, Michael Dray, Michael Swarbrick, and John V. Conaglen Copyright © 2015 Marianne S. Elston et al. All rights reserved. Idiopathic Basal Ganglia Calcification Presented with Impulse Control Disorder Mon, 13 Jul 2015 08:14:36 +0000 Primary familial brain calcification (PFBC), also referred to as Idiopathic Basal Ganglia Calcification (IBGC) or “Fahr’s disease,” is a clinical condition characterized by symmetric and bilateral calcification of globus pallidus and also basal ganglions, cerebellar nuclei, and other deep cortical structures. It could be accompanied by parathyroid disorder and other metabolic disturbances. The clinical features are dysfunction of the calcified anatomic localization. IBGC most commonly presents with mental damage, convulsion, parkinson-like clinical picture, and neuropsychiatric behavior disorders; however, presentation with impulse control disorder is not a frequent presentation. In the current report, a 43-year-old male patient who has been admitted to psychiatry policlinic with the complaints of aggressive behavior episodes and who has been diagnosed with impulse control disorder and IBGC was evaluated in the light of the literature. Cem Sahin, Mustafa Levent, Gulhan Akbaba, Bilge Kara, Emine Nese Yeniceri, and Betul Battaloglu Inanc Copyright © 2015 Cem Sahin et al. All rights reserved. Paraganglioma Presenting as Postpartum Fever of Unknown Origin Tue, 07 Jul 2015 09:24:03 +0000 A young healthy postpartum mother presented with intermittent high fevers and tachycardia. Appropriate testing was done to rule out infectious causes including pan cultures but no identifiable infectious source was found. A CT of the abdomen showed a retroperitoneal mass with two small pulmonary nodules and a bony metastatic lesion. She was found to have stage 4 extra-adrenal paraganglioma with metastases to the lungs and spine. She underwent resection of the mass and is currently undergoing palliative radiation to the spine for pain control. Subsequent genetic testing identified a likely pathogenic variant in SDHB, confirming a diagnosis of Hereditary Paraganglioma-Pheochromocytoma syndrome. Shraddha Narechania, Amrita Bath, Laleh Ghassemi, Chetan Lokhande, Abdo Haddad, Ali Mir Yousuf, Jessica Marquard, and K. V. Gopalakrishna Copyright © 2015 Shraddha Narechania et al. All rights reserved. Unexpected Bone Metastases from Thyroid Cancer Sun, 05 Jul 2015 14:19:20 +0000 Objective. To present a complicated case of differentiated thyroid carcinoma (DTC) with metastases to the skull that was evident on I-131 whole body scan (WBS) but negative on other imaging modalities in a low risk patient. Methods. We will discuss clinical course, imaging, pathological findings, and treatment of the patient with skull metastasis from DTC. Pertinent literature on imaging and pathology findings as well as radioactive iodine (RAI) treatment impact on quality of life and survival in patients with bone metastases from DTC will be reviewed. Results. The patient is a 37-year-old woman with a diagnosis of DTC who had focal areas of increased uptake in the head on WBS with no correlative findings on CT and MRI. Initially, false positive findings were suspected since patient had a low risk for developing metastases. However, the persistent findings on post-RAI treatment WBS, following two courses of treatment, were highly concerning for metastatic bone disease. WBC performed 6 months following the second RAI treatment revealed resolution of the findings. Conclusions. False positive findings in WBS are frequent and may be due to contamination, perspiration, or folliculitis of the scalp as well as benign lesions such as meningioma, hematoma, cavernous angioma, and metallic sutures. However, metastatic disease should always be considered even if the patient has low risk of distant metastatic disease and correlative images do not support the diagnosis. RAI therapy appears to improve the survival rates and quality of life of thyroid cancer patients with bone metastases based on retrospective studies. Sandra Gibiezaite, Savas Ozdemir, Sania Shuja, Barry McCook, Monica Plazarte, and Mae Sheikh-Ali Copyright © 2015 Sandra Gibiezaite et al. All rights reserved. Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome Thu, 02 Jul 2015 12:45:58 +0000 Introduction. Female hyperandrogenism is a frequent motive of consultation. It is revealed by hirsutism, acne or seborrhea, and disorders in menstruation cycle combined or not with virilisation signs. Several etiologies are incriminated but the hyperandrogenism-insulin resistance-acanthosis nigricans syndrome is rare. Observation. A 20-year-old girl, having had a five-year-old secondary amenorrhea. The exam revealed a patient, normotensive with a body mass index at 30 kg/m2 and a waist measurement of 120 cm, a severe hirsutism assessed to be 29 according to Ferriman Gallwey scale, virilisation signs of male morphotype, clitoridic hypertrophy and frontal alopecia, and an acanthosis nigricans behind the neck, in the armpits and elbows. The assessment carried out revealed testosteronemia at 1.28 ng/mL, which is more than twice the upper norm of the laboratory. Imaging studies were negative for both ovarian and adrenal masses. The retained diagnosis is HAIR-AN syndrome probably related to ovarian hyperthecosis and she was provided with androcur 50 mg/day and estradiol pills 2 mg/day and under hygiene-dietetic conditions. Conclusion. This case proves that HAIR-AN syndrome could be responsible for severe hyperandrogenism with virilisation signs. It must be retained after discarding the tumoral causes and when there are signs of insulin resistance. A. H. Dédjan, A. Chadli, S. El Aziz, and A. Farouqi Copyright © 2015 A. H. Dédjan et al. All rights reserved. Temozolomide-Induced Shrinkage of Invasive Pituitary Adenoma in Patient with Nelson’s Syndrome: A Case Report and Review of the Literature Mon, 29 Jun 2015 11:26:38 +0000 Introduction. Invasive tumours in Nelson’s syndrome need aggressive therapy. Recent reports have documented the efficacy of temozolomide (TMZ) in the treatment of adenomas resistant to conventional management. Objective. The review of the literature concerning TMZ treatment of atypical corticotroph adenomas and a case study of 56-year-old woman who developed Nelson’s syndrome. Treatment Proceeding. The patient with Cushing’s disease underwent transsphenoidal adenomectomy followed by a 27-month-long period of remission. Due to a regrowth of the tumor, she underwent two reoperations followed by stereotactic radiotherapy. Because of treatment failures, bilateral adrenalectomy was performed. Then she developed Nelson’s syndrome. A fourth transsphenoidal adenomectomy was performed, but there was a rapid recurrence. Five months later, she underwent a right frontotemporal craniotomy. Due to a rapid regrowth of the tumour, the patient did not receive gamma-knife therapy and was treated with cabergoline and somatostatin analogue for some time. Only TMZ therapy resulted in marked clinical, biochemical, and radiological improvement. To date, this is the first case of invasive corticotroph adenoma in Nelson’s syndrome treated with temozolomide in Poland. Conclusion. In our opinion, temozolomide can be an effective treatment option of invasive adenomas in Nelson’s syndrome. Maria Kurowska, Andrzej Nowakowski, Grzegorz Zieliński, Joanna Malicka, Jerzy S. Tarach, Maria Maksymowicz, and Piotr Denew Copyright © 2015 Maria Kurowska et al. All rights reserved. A Rare Presentation of Primary Hyperparathyroidism with Concurrent Aldosterone-Producing Adrenal Carcinoma Tue, 16 Jun 2015 13:09:58 +0000 Aldosterone-producing adrenocortical carcinomas are an extremely rare cause of hyperaldosteronism (<1%). Coexistence of different endocrine tumors warrants additional screening for multiple endocrine neoplasia syndromes, especially in young patients with large or malignant masses. We present the case of a 40-year-old man with a history of hypertension that presented with an incidental left adrenal tumor during an ultrasound performed for nephrolithiasis. Biochemical assessment showed a mildly elevated calcium (11.1 mg/dL), high parathyroid hormone, and a plasma aldosterone concentration/plasma renin activity ratio of 124.5 (normal < 30), compatible with primary hyperparathyroidism with a concomitant primary hyperaldosteronism. A Tc99m-MIBI scintigraphy showed an abnormally increased tracer uptake in the right superior parathyroid and abdominal computed tomography confirmed a left adrenal tumor of 20 cm. The patient underwent parathyroidectomy and adrenalectomy with final pathology reports of parathyroid hyperplasia and adrenal carcinoma with biochemical remission of both endocrinopathies. He was started on chemotherapy, but the patient developed a frontal cortex and an arm metastasis and finally died less than one year later. Mario Molina-Ayala, Claudia Ramírez-Rentería, Analleli Manguilar-León, Pedro Paúl-Gaytán, and Aldo Ferreira-Hermosillo Copyright © 2015 Mario Molina-Ayala et al. All rights reserved. Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: A Case Report and Review of the Literature Mon, 15 Jun 2015 13:44:42 +0000 Various endocrine manifestations are commonly described in myotonic dystrophy (MD), including primary hypogonadism, diabetes mellitus, and thyroid and parathyroid dysfunction. We describe a 46-year-old woman with a family history of MD with her son. She was diagnosed with cardiac arrhythmia and required the implantation of a pacemaker. She was noted to have a bilateral cataract. She complained of muscle weakness, diffuse myalgia, and palpitation. The electromyography (EMG) showed myotonic discharges. Laboratory tests showed high serum calcium 2.83 mmol/L, serum phosphate 1.2 mmol/L, parathormone 362.5 pg/mL, thyroid stimulating hormone TSH 0.02 mIU/L (normal range: 0.34–5.6 mIU/L), FT4 21.17 ng/mL, and negative anti-thyroperoxidase antibodies. Cervical ultrasound revealed a multinodular goiter. The 99mTc-MIBI scintigraphy localized a lower right parathyroid adenoma. The clinical data, the family history of MD, EMG data, and endocrine disturbances were strongly suggestive of MD associated with hyperthyroidism and primary hyperparathyroidism. Yosra Cherif, Baha Zantour, Wafa Alaya, Olfa Berriche, Samia Younes, and Mohamed Habib Sfar Copyright © 2015 Yosra Cherif et al. All rights reserved. Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence? Mon, 15 Jun 2015 11:18:59 +0000 Background. 47XYY syndrome is a rare sex chromosome variation characterized by an additional Y chromosome. Most patients with 47XYY karyotype have normal phenotype. This disorder seems associated with a higher risk of developing behavioral and cognitive problems, tall stature, and infertility in adulthood. Sexual development disorder is a rare finding. We report a first case with an abnormal left coronary artery originating from the pulmonary artery in a 47XYY patient. Case. A one-month-old child was referred for ectopic testis and micropenis. Physical examination revealed facial dysmorphia, micropenis, and curvature of the penis with nonpalpable testis. Laboratory tests showed decreased total testosterone and anti-Mullerian hormone (AMH) levels. Blood karyotyping revealed a 47XYY chromosomal formula. At the age of 3 months, the patient developed dyspnea and tachycardia. Echocardiography revealed an anomalous left coronary artery from pulmonary artery with left ventricular dysfunction requiring surgical revascularization by direct reimplantation of the left coronary artery system. Our second case was a 3-year-old child referred for hypospadias with nonpalpable left testicle. Physical examination showed hypertelorism. Blood karyotyping revealed a 47XYY chromosomal formula. Conclusion. To our knowledge, this is the first case of 47XYY syndrome associated with this congenital heart malformation and a sexual development disorder. Hanane Latrech, Imane Skikar, Mohammed El Hassan Gharbi, Abdelmjid Chraïbi, and Ahmed Gaouzi Copyright © 2015 Hanane Latrech et al. All rights reserved. Characteristics and Treatment Results of 5 Patients with Fibrous Dysplasia and Review of the Literature Thu, 11 Jun 2015 09:03:07 +0000 Aim. Fibrous dysplasia is a rare bone disease caused by missense mutation leading to abnormal fibroblast and osteoblast proliferation and increased bone resorption. FD can present in monostotic or polyostotic forms. About 3% of FD could be in association with McCune-Albright syndrome (MAS). Because FD is a rare disease, there is limited data in the literature about characteristics of disease and response to treatment. Methods. We present our five cases of FD with general properties and their responses to medical treatment. Results. Two of our patients had polyostotic and three had monostotic FD. One of the polyostotic patients had MAS. One of our patients had surgery for femur fractures, facial asymmetry, and findings of compression. Four patients were given pamidronate; one was given zoledronic acid as bisphosphonate treatment. Bone pain was relieved in all patients with medical treatment. Conclusion. There was a decrease in bone turnover markers to some degree with medical treatment but no radiological improvement was observed. Nilufer Ozdemir Kutbay, Banu Sarer Yurekli, Emine Kartal Baykan, Serap Baydur Sahin, and Fusun Saygili Copyright © 2015 Nilufer Ozdemir Kutbay et al. All rights reserved. A Case Report Demonstrating How the Clinical Presentation of the Diffuse Sclerosing Variant of Papillary Thyroid Carcinoma Can Mimic Benign Riedel’s Thyroiditis Tue, 02 Jun 2015 11:01:33 +0000 A 44-year-old female presented with a two-month history of a neck mass, sore throat, hoarseness, and intermittent dysphagia. Examination revealed a “woody” hard swelling arising from the right lobe of the thyroid. Clinically this was felt to be classical Riedel’s thyroiditis (RT). Thyroid ultrasound showed a diffusely enlarged, low echogenicity thyroid with a multinodular goitre. An abnormal nodule extending across the isthmus was noted. Following a nondiagnostic fine needle aspiration, an open core biopsy was performed. This showed dense sclerotic fibrosis punctuated by nodular mononuclear inflammatory cells, which obscured follicular epithelial cells consistent with a fibrosing thyroiditis (Riedel’s thyroiditis). A biopsy of pretracheal lymph nodes showed a sclerotic process throughout the lymph nodes and nests of epithelium bands with squamous differentiation obscured by a fibrous process. These findings raised the differential diagnosis of diffuse sclerosing variant of papillary thyroid carcinoma (DSV-PTC) with metastasis to lymph nodes. A total thyroidectomy and pretracheal lymph node dissection were performed. The final histological diagnosis was DSV-PTC. When managing a patient with presumed RT it is important to consider malignancy in the differential. DSV-PTC is one of the more aggressive forms of thyroid cancer but with early diagnosis and appropriate treatment patients may have excellent outcomes. Jennifer Walsh, Tomas P. Griffin, Carmel B. Ryan, James Fitzgibbon, Patrick Sheahan, and Matthew S. Murphy Copyright © 2015 Jennifer Walsh et al. All rights reserved. Thyroidectomy for Painful Thyroiditis Resistant to Steroid Treatment: Three New Cases with Review of the Literature Tue, 02 Jun 2015 09:48:13 +0000 Thyroidal pain is usually due to subacute thyroiditis (SAT). In more severe forms prednisone doses up to 40 mg daily for 2-3 weeks are recommended. Recurrences occur rarely and restoration of steroid treatment cures the disease. Rarely, patients with Hashimoto’s thyroiditis (HT) have thyroidal pain (painful HT, PHT). Differently from SAT, occasional PHT patients showed no benefit from medical treatment so that thyroidectomy was necessary. We report three patients who did not show clinical response to prolonged high dose prednisone treatment: a 50-year-old man, a 35-year-old woman, and a 33-year-old woman. Thyroidectomy was necessary, respectively, after nine-month treatment with 50 mg daily, two-month treatment with 75 mg daily, and one-month treatment with 50 mg daily. The two women were typical cases of PHT. Conversely, in the first patient, thyroid histology showed features of granulomatous thyroiditis, typical of SAT, without fibrosis or lymphocytic infiltration, typical of HT/PHT, coupled to undetectable serum anti-thyroid antibodies. Our data (1) suggest that not only PHT but also SAT may show resistance to steroid treatment and (2) confirm a previous observation in a single PHT patient that increasing prednisone doses above conventional maximal dosages may not be useful in these patients. Enrico Mazza, Francesco Quaglino, Adolfo Suriani, Nicola Palestini, Cristina Gottero, Renzo Leli, and Stefano Taraglio Copyright © 2015 Enrico Mazza et al. All rights reserved. Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature Sun, 31 May 2015 11:58:48 +0000 Introduction. 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. Case Presentation. We describe a 28-year-old female who presented with primary amenorrhea at the age of 19. She had a history of very mild neurological and dental abnormalities. She was found to have hypogonadotropic hypogonadism, and magnetic resonance imaging of the brain showed hypomyelination. The diagnosis of 4H leukodystrophy was made. She was subsequently found to have mutations in the POLR3B gene, which encodes the second largest subunit of RNA polymerase III. She wished to become pregnant and failed to respond to pulsatile GnRH but achieved normal follicular growth and ovulation with subcutaneous gonadotropin therapy. Discussion. Patients with 4H leukodystrophy may initially present with hypogonadotropic hypogonadism, particularly if neurological and dental manifestations are subtle. Making the diagnosis has important implications for prognosis and management. Progressive neurologic deterioration is expected, and progressive endocrine dysfunction may occur. Patients with 4H leukodystrophy should be counseled about disease progression and about this disease’s autosomal recessive inheritance pattern. In those who wish to conceive, ovulation induction may be achieved with subcutaneous gonadotropin therapy, but pulsatile GnRH does not appear to be effective. Emma Billington, Geneviève Bernard, William Gibson, and Bernard Corenblum Copyright © 2015 Emma Billington et al. All rights reserved. Bilateral Adrenal Incidentalomas: A Rare Presentation of Lung Cancer Tue, 26 May 2015 08:42:32 +0000 Adrenal incidentalomas are found incidentally during a radiologic examination performed for indications other than an adrenal disease, and 15% of them are bilateral adrenal masses. This study describes a 51-year-old male smoker patient admitted with diabetes mellitus. An abdominal ultrasonography performed due to his anemia revealed bilateral adrenal masses. His chest X-ray showed abnormal 10 cm opacity at the right upper lung, and brain, thorax, and abdomen CT scans showed multiple lesions compatible with lung cancer metastases. The pathological examination of the transthoracic lung biopsy specimen was consistent with lung adenocarcinoma. Findings in this patient indicate that, in middle aged patients with bilateral adrenal mass and a history or finding of any malignancy, the first diagnosis which should be considered is adrenal metastasis, and confirming the diagnosis by adrenal biopsy may be useless. Furthermore, screening all smoking patients by chest X-ray or thoracic CT for lung cancer may not be accepted as a routine procedure, but in smokers admitted to a hospital due to signs and symptoms attributed to a pulmonary disease, at least a chest X-ray should be requested. Halit Diri, Melih Kiziltepe, Sulbiye Karaburgu, Mehmet Sait Koc, Ersin Ozaslan, and Fatih Tanriverdi Copyright © 2015 Halit Diri et al. All rights reserved. Nilotinib-Associated Destructive Thyroiditis Thu, 07 May 2015 17:25:04 +0000 Protein tyrosine kinase inhibitors are currently an important drug class in the treatment of leukemia. They represent targeted cancer therapy and have become the treatment of choice in chronic myeloid leukemia. Tyrosine kinases are enzymes expressed in multiple tissues and are involved in several signaling pathways influencing cellular growth. Below we describe a patient who developed an unusual complication of tyrosine kinase inhibitor therapy: thyrotoxicosis due to destructive thyroiditis. We review the pathophysiology of tyrosine kinase inhibitor-induced thyroid dysfunction particularly with regard to new second-generation tyrosine kinase inhibitors. Suhalia Bakerywala, Monica D. Schwarcz, Michael D. Goldberg, Guy Valiquette, and Irene A. Weiss Copyright © 2015 Suhalia Bakerywala et al. All rights reserved. A Retroperitoneal Leiomyosarcoma Presenting as an Adrenal Incidentaloma in a Subject on Warfarin Wed, 29 Apr 2015 07:24:42 +0000 Adrenal incidentalomas (AIs) are mostly benign and nonsecretory. Management algorithms lack sensitivity when assessing malignant potential, although functional status is easier to assess. We present a subject whose AI was a retroperitoneal leiomyosarcoma (RL). Case Presentation. A woman on warfarin with SLE and the antiphospholipid syndrome, presented with left loin pain. She was normotensive and clinically normal. Ultrasound scans demonstrated left kidney scarring, but CT scans revealed an AI. MRI scans later confirmed the AI without significant fat and no interval growth. Cortisol after 1 mg dexamethasone, urinary free cortisol and catecholamines, plasma aldosterone renin ratio, and 17-hydroxyprogesterone were within the reference range. Initially, adrenal haemorrhage was diagnosed because of warfarin therapy and the acute presentation. However, she underwent adrenalectomy because of interval growth of the AI. Histology confirmed an RL. The patient received adjuvant radiotherapy. Discussion. Our subject presented with an NSAI. However, we highlight the following: (a) the diagnosis of adrenal haemorrhage in this anticoagulated woman was revised because of interval growth; (b) the tumour, an RL, was relatively small at diagnosis; (c) this subject has survived well over 60 months despite an RL perhaps because of her acute presentation and early diagnosis of a small localised tumour. Ishrat N. Khan, Mohamed A. Adlan, Michael J. Stechman, and Lakdasa D. Premawardhana Copyright © 2015 Ishrat N. Khan et al. All rights reserved. Antineutrophilic Cytoplasmic Antibody Positive Vasculitis Associated with Methimazole Use Tue, 28 Apr 2015 06:31:03 +0000 ANCA-associated vasculitis (AAV) is a rare and potentially life threatening complication associated with antithyroid drug use. It is more commonly reported with propylthiouracil, with fewer cases reported with methimazole use. We present the case of a 55-year-old man with toxic multinodular goiter which was treated with methimazole for 6 months. He developed ANCA positive leukocytoclastic vasculitis with hemorrhagic and necrotic bullous lesions of lower extremities. The vasculitis was initially thought to be secondary to recent cephalosporin use; however, the skin lesions progressed despite stopping the cephalosporin and treatment with steroids, and he developed osteomyelitis. His vasculitis resolved after cessation of methimazole use. This case highlights the importance of careful monitoring for variable manifestations of AAV in patients treated with methimazole. Deep Shikha, Jonathan Harris, Christine Resta, and Patricia Park Copyright © 2015 Deep Shikha et al. All rights reserved. Amphetamine-Like Analogues in Diabetes: Speeding towards Ketogenesis Sun, 19 Apr 2015 07:20:38 +0000 Obesity is common in patients with type 1 and type 2 diabetes. Amphetamine-like analogues comprise the most popular class of weight loss medications. We present a case of a 34-year-old African American female with a history of type 1 diabetes, dyslipidemia, and obesity who developed diabetic ketoacidosis (DKA) after starting Diethylpropion for the purpose of weight loss. Shortly after starting Diethylpropion, she developed nausea, vomiting, and periumbilical pain. Blood work revealed glucose of 718 mg/dL, pH 7.32 (7.35–7.45), bicarbonate 16 mmol/L (22–29 mmol/L), and anion gap 19 mmol/L (8–16 mmol/L). Urine analysis demonstrated large amount of ketones. She was hospitalized and successfully treated for DKA. Diethylpropion was discontinued. Amphetamine-like analogues administration leads to norepinephrine release from the lateral hypothalamus which results in the appetite suppression. Peripheral norepinephrine concentration rises as well. Norepinephrine stimulates adipocyte lipolysis and thereby increases nonesterified fatty acids (NEFA) availability. It promotes β-oxidation of NEFA to ketone bodies while decreasing metabolic clearance rate of ketones. In the setting of acute insulin deficiency these effects are augmented. Females are more sensitive to norepinephrine effects compared to males. In conclusion, amphetamine-like analogues lead to a release of norepinephrine which can result in a clinically significant ketosis, especially in the setting of insulin deficiency. Natalia M. Branis and Steven D. Wittlin Copyright © 2015 Natalia M. Branis and Steven D. Wittlin. All rights reserved. Life-Threatening Hypercalcemia due to Graves’ Disease and Concomitant Adrenal Failure: A Case Report and Review of the Literature Tue, 24 Mar 2015 07:08:48 +0000 A 47-year-old woman presented with the complaints of nausea, vomiting, and weight loss. She had a history of bilateral surrenalectomy due to Cushing’s syndrome. On examination she had tachycardia and orthostatic hypotension. Laboratory examinations revealed hypercalcemia and suppressed parathyroid hormone levels. She also had thyrotoxicosis due to Graves’ disease. The investigations to rule out a malignancy were negative. With steroid, zoledronic acid, and antithyroid drug treatment her symptoms were resolved and calcium level was normalized. This case highlights the importance of recognizing thyrotoxicosis and concomitant adrenal failure as a possible cause of severe hypercalcemia. Hande Mefkure Ozkaya, Fatma Ela Keskin, Ozlem Asmaz Haliloglu, Tugba Elif Senel, and Pinar Kadioglu Copyright © 2015 Hande Mefkure Ozkaya et al. All rights reserved. Thyroid Storm Precipitated by Duodenal Ulcer Perforation Mon, 09 Mar 2015 10:35:04 +0000 Thyroid storm is a rare and life-threatening complication of thyrotoxicosis that requires prompt treatment. Thyroid storm is also known to be associated with precipitating events. The simultaneous treatment of thyroid storm and its precipitant, when they are recognized, in a patient is recommended; otherwise such disorders, including thyroid storm, can exacerbate each other. Here we report the case of a thyroid storm patient (a 55-year-old Japanese male) complicated with a perforated duodenal ulcer. The patient was successfully treated with intensive treatment for thyroid storm and a prompt operation. Although it is believed that peptic ulcer rarely coexists with hyperthyroidism, among patients with thyroid storm, perforation of a peptic ulcer has been reported as one of the causes of fatal outcome. We determined that surgical intervention was required in this patient, reported despite ongoing severe thyrotoxicosis, and reported herein a successful outcome. Shoko Natsuda, Yomi Nakashima, Ichiro Horie, Takao Ando, and Atsushi Kawakami Copyright © 2015 Shoko Natsuda et al. All rights reserved.