Case Reports in Endocrinology The latest articles from Hindawi © 2018 , Hindawi Limited . All rights reserved. Nightmare and Abnormal Dreams: Rare Side Effects of Metformin? Wed, 17 Jan 2018 00:00:00 +0000 Background. Metformin is widely known as an antidiabetic agent which has significant gastrointestinal side effects, but nightmares and abnormal dreams as its adverse reactions are not well reported. Case Presentation. Herein we present a case of 56-year-old male patient with no known history of recurrent nightmares and sleep disorder, experiencing nightmare and abnormal dreams directly after consumption of 750 mg extended release metformin. He reported his dream as an unpleasant experience which awakened him at night with negative feelings. The nightmare only lasted for a night, but his dreams every night thereafter seemed abnormal. The dreams were vivid and indescribable. The disappearance and occurrence of abnormal dreams ensued soon after the drug was discontinued and rechallenged. The case was assessed using Naranjo Adverse Drug Reaction (ADR) probability scale and resulted as probable causality. Conclusion. Metformin might be the underlying cause of nightmare and abnormal dreams in this patient. More studies are needed to confirm the association and causality of this findings. Theo Audi Yanto, Ian Huang, Felicia Nathania Kosasih, and Nata Pratama Hardjo Lugito Copyright © 2018 Theo Audi Yanto et al. All rights reserved. Posaconazole-Induced Adrenal Insufficiency in a Case of Chronic Myelomonocytic Leukemia Tue, 16 Jan 2018 00:00:00 +0000 Introduction. Posaconazole is an azole used in treatment and prophylaxis of a broad spectrum of fungal infections. Antifungals such as ketoconazole have been shown to cause primary adrenal insufficiency (AI) as a result of direct inhibition on the steroidogenesis pathway. There is only one reported case of primary AI induced by posaconazole in a patient with mucormycosis. We report a case of posaconazole-related primary AI. Case. A 63-year-old man with chronic myelomonocytic leukemia was admitted for fatigue and intermittent nausea and vomiting. He had recently discontinued prophylactic posaconazole 300 mg daily. He was assessed for AI with a morning cortisol of 1.9 mcg/dL followed by a failed cosyntropin stimulation (CS) test. Adrenocorticotropic hormone (ACTH) level was 154.6 pg/mL with negative 21-hydroxylase antibodies. The patient’s symptoms improved with initiation of hydrocortisone and fludrocortisone. One year after discontinuation of posaconazole, he underwent a repeat CS test which showed normal adrenal function with normal ACTH at 34.1 pg/mL. Conclusion. In this case, we demonstrate that prolonged use of posaconazole is associated with primary AI. As use of posaconazole increases, knowledge of the potential risk of AI is important and must be included in the differential diagnosis when these patients present with hypotension, hypoglycemia, and failure to thrive. Ann Miller, Lauren K. Brooks, Silpa Poola-Kella, and Rana Malek Copyright © 2018 Ann Miller et al. All rights reserved. Severe Hyperthyroidism Complicated by Agranulocytosis Treated with Therapeutic Plasma Exchange: Case Report and Review of the Literature Wed, 10 Jan 2018 06:48:28 +0000 Aim. To present a case of Graves’ disease complicated by methimazole induced agranulocytosis treated with therapeutic plasma exchange (TPE) and review of the literature. Case Presentation. A 21-year-old patient with a history of Graves’ disease presented to the endocrine clinic. His history was significant for heat intolerance, weight loss, and tremors. Upon examination he had tachycardia, smooth goiter, thyroid bruit, and hyperactive reflexes. He was started on methimazole and metoprolol and thyroidectomy was to be done once his thyroid function tests normalized. On follow-up, the patient symptoms persisted. Complete blood count done showed a white blood cell count of 2100 (4000–11,000 cells/cu mm) with a neutrophil count of 400 cells/cu mm, consistent with neutropenia. He was admitted to the hospital and underwent 3 cycles of TPE and was also given filgrastim. He improved clinically and his thyroxine (T4) levels also came down. Thyroidectomy was done. He was discharged on levothyroxine for postsurgical hypothyroidism. Conclusion. Plasmapheresis may be useful in the treatment of hyperthyroidism. It works by removing protein bound hormones and also possibly inflammatory cytokines. Further studies are needed to clarify the role of various modalities of TPE in the treatment of hyperthyroidism. Vishnu Garla, Karthik Kovvuru, Shradha Ahuja, Venkatataman Palabindala, Bharat Malhotra, and Sohail Abdul Salim Copyright © 2018 Vishnu Garla et al. All rights reserved. Internal Spreading of Papillary Thyroid Carcinoma: A Case Report and Systemic Review Mon, 08 Jan 2018 00:00:00 +0000 An 18-year-old female diagnosed finally as PTC with intrathyroid spread was reported, and the diagnosis and surgical treatment of internal spreading of PTC were discussed. One lump was found on the thyroid isthmus by physical examination and B ultrasound, and multiple nodular shadows were found by CT. This patient finally underwent total thyroidectomy with bilateral central node dissection due to multifocal papillary thyroid carcinoma except PTC in the isthmus found in right lobe by intraoperative frozen section. The pathological section showed a major thyroid carcinoma in thyroid isthmus with scattered micropapillary carcinoma around it in the whole thyroid gland. The small lesions are distributed around central lesion in a radial form and the number of small lesions decreases with increased distance from central lesion. PTC with internal spread should be distinguished from multifocal PTC and poorly differentiated PTC in pathology. Thyroid cancerous node had a large diameter; it was likely to have internal spread. Combined imaging before surgery should be valued to diagnose PTC with internal spread. Preoperative CT and intraoperative frozen section are helpful for surgical volume selection of PTC with internal spread. Hui Jin, Huanhuan Yan, Huamei Tang, Miao Zheng, Chaojie Wu, and Jun Liu Copyright © 2018 Hui Jin et al. All rights reserved. Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria Thu, 04 Jan 2018 00:00:00 +0000 Adrenal insufficiency is a potentially life-threatening condition when it occurs acutely, as in adrenal hemorrhage. Generally it is not reversible and requires chronic replacement therapy. Acute intermittent porphyria (AIP) is a rare genetic disease characterized by alterations in heme biosynthesis that result in accumulation of precursors in tissues. A crisis can be triggered by many conditions such as surgery and infections. Symptoms are similar to those of acute hypoadrenalism. Moreover, both conditions are characterized by hyponatremia. We describe the case of a postmenopausal woman known to be affected by AIP who developed after surgery a primary adrenal insufficiency associated with adrenal enlargement; the latter completely reverted in six months. Adele Latina, Massimo Terzolo, Anna Pia, Giuseppe Reimondo, Elena Castellano, Micaela Pellegrino, and Giorgio Borretta Copyright © 2018 Adele Latina et al. All rights reserved. Thyroid Storm Triggered by Strangulation in a Patient with Undiagnosed Graves’ Disease Tue, 02 Jan 2018 00:00:00 +0000 Thyroid storm is the life-threatening end-organ manifestation of severe thyrotoxicosis. If left untreated, thyroid storm may cause acute heart failure, multiorgan dysfunction, and death. A high degree of suspicion is necessary to make the diagnosis and start antithyroid medications to decrease mortality. Thyroid storm is generally seen in patients with Graves’ disease but should also be suspected in patients with fever, tachycardia, altered mental status, and risk factors including local trauma to the neck, such as strangulation. Based on our review, we report the first case of thyroid storm after strangulation as the presentation of previously undiagnosed Graves’ disease. Jorge I. Conte, Marilyn A. Arosemena, Kunal Kapoor, Naomi G. Dempsey, Megan L. Zaleski, and Atil Y. Kargi Copyright © 2018 Jorge I. Conte et al. All rights reserved. A False Positive I-131 Metastatic Survey Caused by Radioactive Iodine Uptake by a Benign Thymic Cyst Wed, 20 Dec 2017 08:25:29 +0000 Thyroid carcinoma is the most common endocrine malignancy in the United States with increasing incidence and diagnosis but stable mortality. Differentiated thyroid cancer rarely presents with distant metastases and is associated with a low risk of morbidity and mortality. Despite this, current protocols recommend remnant ablation with radioactive iodine and evaluation for local and distant metastasis in some patients with higher risk disease. There are several case reports of false positive results of metastatic surveys that are either normal physiologic variants or other pathological findings. Most false positive findings are associated with tissue that has physiologic increased uptake of I-131, such as breast tissue or lung tissue; pathological findings such as thymic cysts are also known to have increased uptake. Our case describes a rare finding of a thymic cyst found on a false positive I-131 metastatic survey. The patient was taken for surgical excision and the final pathology was a benign thymic cyst. Given that pulmonary metastases of differentiated thyroid cancer are rare, thymic cysts, though also rare, must be part of the differential diagnosis for false positive findings on an I-131 survey. Avneet K. Singh, Adina A. Bodolan, and Matthew P. Gilbert Copyright © 2017 Avneet K. Singh et al. All rights reserved. Localized Subcutaneous Insulin-Derived Amyloidosis Excised after Evaluation Using Ultrasonography in a Patient with Type 2 Diabetes Mellitus Mon, 18 Dec 2017 00:00:00 +0000 A 62-year-old man with type 2 diabetes mellitus, who had been on insulin therapy for the past 20 years, was found to have subcutaneous mass formation in the abdomen during a workup of worsened glycemic control. Because of suspected amyloid deposition, he was advised to avoid injections to the mass, which led to improvement of glycemic control. However, he strongly requested mass excision and was hospitalized. After evaluation using ultrasonography and computed tomography, a total mass excision was performed, and a diagnosis of insulin-derived amyloidosis was made. Comparison of the ultrasonographic and histopathological findings demonstrated that the location of the amyloid deposition nearly corresponded to the hypoechoic region. This case highlights that ultrasonography, which is a noninvasive imaging modality, can be useful for detection of insulin-derived amyloidosis. Seiya Hagiwara, Shinji Taneda, Takaya Fukumoto, Kazuya Hagiwara, Minoru Kikuchi, Tetsunori Kimura, Hidetaka Nakayama, and Naoki Manda Copyright © 2017 Seiya Hagiwara et al. All rights reserved. Rare Cause of Recurrent Hypoglycemia: Insulin Autoimmune Syndrome Sun, 26 Nov 2017 07:51:56 +0000 We report a case of insulin autoimmune syndrome associated with several autoantibodies, presenting with recurrent hypoglycemia, predominantly in the postprandial period, which improved by dietary management and spontaneously resolved within two months. Differentiation from other causes of hyperinsulinemic hypoglycemia, such as insulinoma, is important to avoid unnecessary invasive procedures or surgical interventions. The 75-gram oral glucose tolerance test (OGTT) and mixed meal test showed a typical pattern, which may be useful indirect evidence of insulin autoimmune syndrome. Rungsima Tinmanee, Rungpailin Buranagan, Sirirat Ploybutr, Raweewan Lertwattanarak, and Apiradee Sriwijitkamol Copyright © 2017 Rungsima Tinmanee et al. All rights reserved. Adrenal Oncocytic Neoplasm with Paradoxical Loss of Important Mitochondrial Steroidogenic Protein: The 18 kDA Translocator Protein Sun, 26 Nov 2017 07:41:19 +0000 The adrenal glands produce a variety of hormones that play a key role in the regulation of blood pressure, electrolyte homeostasis, metabolism, immune system suppression, and the body’s physiologic response to stress. Adrenal neoplasms can be asymptomatic or can overproduce certain hormones that lead to different clinical manifestations. Oncocytic adrenal neoplasms are infrequent tumors that arise from cells in the adrenal cortex and display a characteristic increase in the number of cytoplasmic mitochondria. Since the rate-limiting step in steroidogenesis includes the transport of cholesterol across the mitochondrial membranes, in part carried out by the 18-kDa translocator protein (TSPO), we assessed the expression of TSPO in a case of adrenal oncocytic neoplasm using residual adrenal gland of the patient as internal control. We observed a significant loss of TSPO immunofluorescence expression in the adrenal oncocytic tumor cells when compared to adjacent normal adrenal tissue. We further confirmed this finding by employing Western blot analysis to semiquantify TSPO expression in tumor and normal adrenal cells. Our findings could suggest a potential role of TSPO in the tumorigenesis of this case of adrenocortical oncocytic neoplasm. Roberto Ruiz-Cordero, Alia Gupta, Arumugam R. Jayakumar, Gaetano Ciancio, Gunnlaugur Petur Nielsen, and Merce Jorda Copyright © 2017 Roberto Ruiz-Cordero et al. All rights reserved. Effects of Mifepristone on Nonalcoholic Fatty Liver Disease in a Patient with a Cortisol-Secreting Adrenal Adenoma Sun, 19 Nov 2017 00:00:00 +0000 Cushing syndrome (CS), a complex, multisystemic condition resulting from prolonged exposure to cortisol, is frequently associated with nonalcoholic fatty liver disease (NAFLD). In patients with adrenal adenoma(s) and NAFLD, it is essential to rule out coexisting endocrine disorders like CS, so that the underlying condition can be properly addressed. We report a case of a 49-year-old woman with a history of hypertension, prediabetes, dyslipidemia, biopsy-confirmed steatohepatitis, and benign adrenal adenoma, who was referred for endocrine work-up for persistent weight gain. Overt Cushing features were absent. Biochemical evaluation revealed nonsuppressed cortisol on multiple 1-mg dexamethasone suppression tests, suppressed adrenocorticotropic hormone, and low dehydroepiandrosterone sulfate. The patient initially declined surgery and was treated with mifepristone, a competitive glucocorticoid receptor antagonist. In addition to improvements in weight and hypertension, substantial reductions in her liver enzymes were noted, with complete normalization by 20 weeks of therapy. This case suggests that autonomous cortisol secretion from adrenal adenoma(s) could contribute to the metabolic and liver abnormalities in patients with NAFLD. In conclusion, successful management of CS with mifepristone led to marked improvement in the liver enzymes of a patient with long-standing NAFLD. Enzo Ragucci, Dat Nguyen, Michele Lamerson, and Andreas G. Moraitis Copyright © 2017 Enzo Ragucci et al. All rights reserved. Iatrogenic Cushing’s Syndrome with Subsequent Adrenal Insufficiency in a Patient with Psoriasis Vulgaris Using Topical Steroids Mon, 13 Nov 2017 10:25:19 +0000 Iatrogenic Cushing’s syndrome (ICS) is usually related to prolonged and/or high-dose oral or parenteral steroid use. Psoriasis vulgaris (PV) is chronic inflammatory disease and characterized by periods of attack and remission. Topical steroid (TS) is the first choice of treatment for localized and mild PV. The development of systemic side effects of the steroids is usually not observed after TS application. But the risk of developing ICS still exists. In the literature, there are a few adult cases who developed ICS and subsequent adrenal insufficiency associated with TS. In this article, a male patient with PV developing ICS and secondary adrenal insufficiency after treatment of TS for 12 years is presented. Suzan Demir Pektas, Gursoy Dogan, and Nese Cinar Copyright © 2017 Suzan Demir Pektas et al. All rights reserved. Thyrotoxicosis Associated with a Hypopharyngeal Toxic Nodular Thyroid Thu, 02 Nov 2017 00:00:00 +0000 Ectopic thyroid is a rare developmental anomaly which may be either asymptomatic or present with thyroid dysfunction as well as pressure symptoms. Here we present a novel case of thyrotoxicosis associated with a hypopharyngeal multinodular thyroid in a female. Removal of the ectopic thyroid led to normalization of the thyroid status. S. Ali Imran, Adam Hinchey, Rob Hart, Martin Bullock, Andrew Ross, and Steven Burrell Copyright © 2017 S. Ali Imran et al. All rights reserved. Celiac Disease in Patients with Cystic Fibrosis-Related Bone Disease Thu, 02 Nov 2017 00:00:00 +0000 Both cystic fibrosis (CF) and celiac disease can cause low bone mineral density (BMD) and fractures. Celiac disease may occur at a higher frequency in patients with CF than the general population, and symptoms of these conditions may overlap. We report on two patients presenting with CF-related bone disease in the past year who were subsequently found to have concurrent celiac disease. Because adherence to a gluten-free diet may improve BMD in patients with celiac disease, this could have important implications for treatment. Clinicians should consider screening for celiac disease in patients with CF who have low BMD, worsening BMD in the absence of other risk factors, and/or difficult to treat vitamin D deficiency. Melissa S. Putman, Alexandra Haagensen, Isabel Neuringer, and Leonard Sicilian Copyright © 2017 Melissa S. Putman et al. All rights reserved. Coexistence of GH-Producing Pituitary Macroadenoma and Meningioma in a Patient with Multiple Endocrine Neoplasia Type 1 with Hyperglycemia and Ketosis as First Clinical Sign Wed, 01 Nov 2017 08:54:04 +0000 We present the clinical case of a patient who was admitted with an onset of diabetes mellitus (DM) with associated ketosis and whose clinical, hormonal, and radiological evolution revealed the presence of primary hyperparathyroidism, pancreatic neuroendocrine tumor, and GH-producing pituitary macroadenoma in the context of multiple endocrine neoplasia type 1 (MEN1). DM is relatively common in cases of acromegaly, but it is not generally associated with ketosis. Simultaneously, the patient presented a meningioma, which is associated with pituitary macroadenoma only in extremely rare cases. A. Herrero-Ruiz, H. S. Villanueva-Alvarado, J. J. Corrales-Hernández, C. Higueruela-Mínguez, J. Feito-Pérez, and J. M. Recio-Cordova Copyright © 2017 A. Herrero-Ruiz et al. All rights reserved. Coexistence of Primary Hyperaldosteronism and Graves’ Disease, a Rare Combination of Endocrine Disorders: Is It beyond a Coincidence—A Case Report and Review of the Literature Mon, 30 Oct 2017 08:29:18 +0000 Background. Primary hyperaldosteronism is a known cause for secondary hypertension. In addition to its effect on blood pressure, aldosterone exhibits proinflammatory actions and plays a role in immunomodulation/development of autoimmunity. Recent researches also suggest significant thyroid dysfunction among patients with hyperaldosteronism, but exact causal relationship is not established. Autoimmune hyperthyroidism (Graves’ disease) and primary hyperaldosteronism rarely coexist but underlying mechanisms associating the two are still unclear. Case Presentation. A 32-year-old Sri Lankan female was evaluated for new onset hypertension in association with hypokalemia. She also had features of hyperthyroidism together with high TSH receptor antibodies suggestive of Graves’ disease. On evaluation of persistent hypokalemia and hypertension, primary hyperaldosteronism due to right-sided adrenal adenoma was diagnosed. She was rendered euthyroid with antithyroid drugs followed by right-sided adrenalectomy. Antithyroid drugs were continued up to 12 months, after which the patient entered remission of Graves’ disease. Conclusion. Autoimmune hyperthyroidism and primary hyperaldosteronism rarely coexist and this case report adds to the limited number of cases documented in the literature. Underlying mechanism associating the two is still unclear but possibilities of autoimmune mechanisms and autoantibodies warrant further evaluation and research. S. S. C. Gunatilake and U. Bulugahapitiya Copyright © 2017 S. S. C. Gunatilake and U. Bulugahapitiya. All rights reserved. Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome Tue, 24 Oct 2017 00:00:00 +0000 Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disease caused by deletion in the short arm of chromosome 4. It is characterized by typical fascial features and a varying degree of intellectual disabilities and multiple systemic involvement. Epidemiological studies confirmed the association of acute pancreatitis with the development of diabetes. However, this association has not been reported in WHS. We report an 18-year-old girl with WHS who presented acutely with nonketotic Hyperglycemic Hyperosmolar Status (HHS) in association with severe acute pancreatitis. Her presentation was preceded by febrile illness with preauricular abscess. She was treated with fluids and insulin infusion and remained on insulin 18 months after presentation. Her parents are cousins and the mother was diagnosed with type 2 diabetes. She had negative autoantibodies and no signs of insulin resistance and her monogenic diabetes genetic testing was negative. Microarray study using WHS probe confirmed deletion of 4p chromosome. Acute pancreatitis is uncommon in children and development of diabetes following pancreatitis has not been reported in WHS. HHS is considerably less frequent than diabetes ketoacidosis in children. We highlight the complex presentation with HHS and acute pancreatitis leading to diabetes that required long term of insulin treatment. Asma Deeb Copyright © 2017 Asma Deeb. All rights reserved. A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism Mon, 23 Oct 2017 08:55:35 +0000 Isolated hypoaldosteronism is a rare autosomal recessive disease presenting with severe salt wasting and failure to thrive in infancy. A 6-month-old Saudi girl born to consanguineous parents was referred from primary health care for failure to thrive and developmental delay. Laboratory tests revealed hyponatremia, hyperkalemia, and metabolic acidosis with high renin and low aldosterone. Blood samples were collected for endocrine and genetic studies. Sequence analysis of the CYP11B2 revealed a T to A transition at position 1398 + 2 in exon 8 of the gene in a homozygous state (c.1398+T>A). This result was confirmed by sequencing an independent PCR product. Given the position of the transition at a highly conserved nucleotide and the predictions of different bioinformatic algorithms, it is likely that the mutation is the pathogenic cause of this condition. This result was compared with the reference NM_000498.3. Here, we report a novel homozygous mutation resulting in aldosterone synthase deficiency. To the best of our knowledge, this mutation has not been described in the literature or in any database thus far. The mutation manifested as a rare inherited disease in an infant exhibiting critical salt loss. An adequate replacement treatment will give a good long-term prognosis. Lama Alfaraidi, Abrar Alfaifi, Rawan Alquaiz, Faten Almijmaj, and Horia Mawlawi Copyright © 2017 Lama Alfaraidi et al. All rights reserved. Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature Wed, 30 Aug 2017 06:25:54 +0000 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 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 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 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 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 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 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 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 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 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 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 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.