Case Reports in Endocrinology The latest articles from Hindawi Publishing Corporation © 2016 , Hindawi Publishing Corporation . All rights reserved. Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review Wed, 28 Sep 2016 10:24:52 +0000 Resistance to thyroid hormone (RTH) is an extremely rare dominantly inherited condition of impaired tissue responsiveness to thyroid hormone (TH). Most patients with RTH have mutations in the gene that encodes the β isoform of the receptor of thyroid hormone (THR-β gene). Mutant receptors are unable to activate or repress target genes. The majority of them are asymptomatic or rarely have hypo- or hyperthyroidism. RTH is suspected by the finding of persistent elevation of serum levels of free T3 (FT3) and free T4 (FT4) and nonsuppressed TSH. We present two cases of RTH diagnosed after total thyroidectomy. The first patient was initially diagnosed with primary hyperthyroidism due to toxic multinodular goiter. The second patient had undergone thyroidectomy for multinodular goiter 16 years before diagnosis of RTH. After thyroidectomy, although on relatively high doses of levothyroxine, both of them presented with the laboratory findings of RTH. Genetic analysis revealed RTH. Anastasios Anyfantakis, Dimitrios Anyfantakis, and Irene Vourliotaki Copyright © 2016 Anastasios Anyfantakis et al. All rights reserved. Occult Langerhans Cell Histiocytosis Presenting with Papillary Thyroid Carcinoma, a Thickened Pituitary Stalk and Diabetes Insipidus Tue, 30 Aug 2016 12:01:57 +0000 Etiologies of a thickened stalk include inflammatory, neoplastic, and idiopathic origins, and the underlying diagnosis may remain occult. We report a patient with a thickened pituitary stalk (TPS) and papillary thyroid carcinoma (PTC) whose diagnosis remained obscure until a skin lesion appeared. The patient presented with PTC, status postthyroidectomy, and I131 therapy. PTC molecular testing revealed BRAF mutant (V600E, GTC>GAG). She had a 5-year history of polyuria/polydipsia. Overnight dehydration study confirmed diabetes insipidus (DI). MRI revealed TPS with loss of the posterior pituitary bright spot. Evaluation showed hypogonadotropic hypogonadism and low IGF-1. Chest X-ray and ACE levels were normal. Radiographs to evaluate for extrapituitary sites of Langerhans Cell Histiocytosis (LCH) were unremarkable. Germinoma studies were negative: normal serum and CSF beta-hCG, alpha-fetoprotein, and CEA. Three years later, the patient developed vulvar labial lesions followed by inguinal region skin lesions, biopsy of which revealed LCH. Reanalysis of thyroid pathology was consistent with concurrent LCH, PTC, and Hashimoto’s thyroiditis within the thyroid. This case illustrates that one must be vigilant for extrapituitary manifestations of systemic diseases to diagnose the etiology of TPS. An activating mutation of the protooncogene BRAF is a potential unifying etiology of both PTC and LCH. Michael S. Gordon and Murray B. Gordon Copyright © 2016 Michael S. Gordon and Murray B. Gordon. All rights reserved. Bilateral Carotid-Cavernous Fistulas: An Uncommon Cause of Pituitary Enlargement and Hypopituitarism Mon, 29 Aug 2016 09:47:57 +0000 Carotid-cavernous fistulas (CCFs) are rare, pathologic communications of the carotid artery and the venous plexus of the cavernous sinus. They can develop spontaneously in certain at risk individuals or following traumatic head injury. Typical clinical manifestations include headache, proptosis, orbital pain, and diplopia. We report a case of bilateral carotid-cavernous fistulas associated with these symptoms and also with pituitary enlargement and hypopituitarism, which improved following surgical intervention. Arterialization of the cavernous sinus and elevated portal pressure may interfere with normal venous drainage and the conveyance of inhibiting and releasing hormones from the hypothalamus, resulting in pituitary enlargement and hypopituitarism. This condition should be considered in the differential diagnosis of hypopituitarism associated with anterior pituitary enlargement. Anthony Liberatore and Ronald M. Lechan Copyright © 2016 Anthony Liberatore and Ronald M. Lechan. All rights reserved. Cerebrovascular Accident due to Thyroid Storm: Should We Anticoagulate? Mon, 15 Aug 2016 09:18:12 +0000 Thyroid storm is a life-threatening condition that occurs secondary to an uncontrolled hyperthyroid state. Atrial fibrillation is a cardiovascular complication occurring in up to 15% of patients experiencing thyroid storm, and if left untreated this condition could have up to a 25% mortality rate. Thyroid storm with stroke is a rare presentation. This case report details a left middle cerebral artery (MCA) stroke with global aphasia and thyroid storm in a 53-year-old Hispanic male patient. Although uncommon, this combination has been reported in multiple case series. Although it is well documented that dysfunctional thyroid levels promote a hypercoagulable state, available guidelines from multiple entities are unclear on whether anticoagulation therapy is appropriate in this situation. Alex Gonzalez-Bossolo, Alexis Gonzalez-Rivera, and Santiago Coste-Sibilia Copyright © 2016 Alex Gonzalez-Bossolo et al. All rights reserved. A Novel T55A Variant of Gsα Associated with Impaired cAMP Production, Bone Fragility, and Osteolysis Sun, 07 Aug 2016 11:38:05 +0000 G-protein coupled receptors (GPCRs) mediate a wide spectrum of biological activities. The GNAS complex locus encodes the stimulatory alpha subunit of the guanine nucleotide binding protein () and regulates production of the second messenger cyclic AMP (cAMP). Loss-of-function GNAS mutations classically lead to Albright’s Hereditary Osteodystrophy (AHO) and pseudohypoparathyroidism, often with significant effects on bone formation and mineral metabolism. We present the case of a child who exhibits clinical features of osteolysis, multiple childhood fractures, and neonatal SIADH. Exome sequencing revealed a novel de novo heterozygous missense mutation of GNAS (c.163A<G, p.T55A) affecting the p-loop of the catalytic GTPase domain. In order to further assess whether this unique mutation resulted in a gain or loss of function of , we introduced the mutation into a rat GNAS plasmid and performed functional studies to assess the level of cAMP activity associated with this mutation. We identified a 64% decrease in isoproterenol-induced cAMP production in vitro, compared to wild type, consistent with loss of activity. Despite a significant decrease in isoproterenol-induced cAMP production in vitro, this mutation did not produce a classical AHO phenotype in our patient; however, it may account for her presentation with childhood fractures and osteolysis. Kelly Wentworth, Alyssa Hsing, Ashley Urrutia, Yan Zhu, Andrew E. Horvai, Murat Bastepe, and Edward C. Hsiao Copyright © 2016 Kelly Wentworth et al. All rights reserved. Persistent Primary Hyperparathyroidism, Severe Vitamin D Deficiency, and Multiple Pathological Fractures Mon, 25 Jul 2016 06:50:27 +0000 Persistent primary hyperparathyroidism (PHPT) refers to the sustained hypercalcemia state detected within the first six months following parathyroidectomy. When it coexists with severe vitamin D deficiency, the effects on bone can be devastating. We report the case of a 56-year-old woman who was sent to this center because of persistent hyperparathyroidism. Her disease had over 3 years of evolution with nephrolithiasis and hip fracture. Parathyroidectomy was performed in her local unit; however, she continued with hypercalcemia, bone pain, and pathological fractures. On admission, the patient was bedridden with multiple deformations by fractures in thoracic and pelvic members. Blood pressure was 100/80, heart rate was 86 per minute, and body mass index was 19 kg/m2. Calcium was 14 mg/dL, parathormone 1648 pg/mL, phosphorus 2.3 mg/dL, creatinine 2.4 mg/dL, urea 59 mg/dL, alkaline phosphatase 1580 U/L, and vitamin D 4 ng/mL. She received parenteral treatment of hypercalcemia and replenishment of vitamin D. The second surgical exploration was radioguided by gamma probe. A retroesophageal adenoma of 4 cm was resected. Conclusion. Persistent hyperparathyroidism with severe vitamin D deficiency can cause catastrophic skeletal bone softening and fractures. Victoria Mendoza-Zubieta, Mauricio Carvallo-Venegas, Jorge Alberto Vargas-Castilla, Nicolás Ducoing-Sisto, Alfredo Alejandro Páramo-Lovera, Lourdes Josefina Balcázar-Hernández, and Julián Malcolm Mac Gregor-Gooch Copyright © 2016 Victoria Mendoza-Zubieta et al. All rights reserved. Mifepristone Accelerates HPA Axis Recovery in Secondary Adrenal Insufficiency Tue, 19 Jul 2016 14:29:54 +0000 Context. Transient secondary adrenal insufficiency (SAI) is an expected complication following successful adenomectomy of ACTH-secreting pituitary adenomas or unilateral adrenalectomy for cortisol-secreting adrenal adenomas. To date, no pharmacological therapy has been shown to hasten recovery of the hypothalamic-pituitary-adrenal (HPA) axis in this clinical scenario. Case Description. A 33-year-old woman underwent uncomplicated unilateral adrenalectomy for a 3.7 cm cortisol-secreting adrenal adenoma. Postoperatively, she developed SAI and was placed on hydrocortisone 15 mg/day, given in divided doses. In the ensuing six years, the patient’s HPA axis failed to recover and she remained corticosteroid-dependent. Quarterly biochemical testing (after withholding hydrocortisone for 18 hours) consistently yielded undetectable serum cortisol and subnormal plasma ACTH levels. While she was on hydrocortisone 15 mg/day, mifepristone was initiated and gradually titrated to a maintenance dose of 600 mg/day after 5 months. Rapid recovery of the HPA axis was subsequently noted with ACTH rising into the supranormal range at 4 months followed by a subsequent rise in cortisol levels into the normal range. After 6 months, the dose of hydrocortisone and mifepristone was lowered and both were ultimately stopped after 8 months. The HPA axis remains normal after an additional 16 months of follow-up. Conclusion. Mifepristone successfully restored the HPA axis in a woman with prolonged secondary adrenal insufficiency (SAI) after adrenalectomy for Cushing’s syndrome (CS). Pejman Cohan Copyright © 2016 Pejman Cohan. All rights reserved. Prolactinoma: A Massive Effect on Bone Mineral Density in a Young Patient Thu, 30 Jun 2016 14:18:43 +0000 This case highlights a prolactinoma in a young male, and its impact on bone health. Osteoporosis has been noted to be an issue in postmenopausal women with prolactinomas. This case shows a similar impact on bone health in a young male resulting in low bone mineral density for age based on -score. This case report highlights the possible mechanisms for the bone loss in the setting of prolactinoma and the need for assessing bone health in such patients. Furthermore it highlights the need for a thorough evaluation in such patients. Scott Sperling and Harikrashna Bhatt Copyright © 2016 Scott Sperling and Harikrashna Bhatt. All rights reserved. Intermittent Fever, Progressive Weight Gain, and Personality Changes in a Five-Year-Old Girl: Unusual Paraneoplastic Syndrome due to Presacral Ganglioneuroma Mon, 20 Jun 2016 07:27:46 +0000 Ganglioneuromas are rare tumors in the neuroblastoma group. Paraneoplastic syndrome (PNS) due to presacral ganglioneuromas was hardly reported in previous literature. Here, we reported that a case of a 5-year-old girl with a presacral ganglioneuroma presented with PNS, who presented with intermittent fever, progressive weight gain, and personality changes. Our report revealed intermittent fever, progressive weight gain, and personality changes may represent rare paraneoplastic syndromes in ganglioneuromas. Chao Yang, Chang-chun Li, Jun Zhang, Xiang-ru Kong, Zhenzhen Zhao, Xiao-bin Deng, Liang Peng, and Shan Wang Copyright © 2016 Chao Yang et al. All rights reserved. Plurihormonal Cosecretion by a Case of Adrenocortical Oncocytic Neoplasm Thu, 16 Jun 2016 09:13:44 +0000 Adrenocortical oncocytic neoplasms (oncocytomas) are extremely rare; only approximately 159 cases have been described so far. The majority are nonfunctional and benign. We describe an unusual case of a functional oncocytoma secreting an excess of glucocorticoids (cortisol) and androgens (androstenedione and DHEAS), a pattern of plurihormonal cosecretion previously not reported in men, presenting with endocrine manifestations of Cushing’s syndrome. The neoplasm was considered to be of uncertain malignant potential (borderline) according to the Lin-Weiss-Bisceglia criteria. J. J. Corrales, C. Robles-Lázaro, A. I. Sánchez-Marcos, M. C. González-Sánchez, P. Antúnez-Plaza, and J. M. Miralles Copyright © 2016 J. J. Corrales et al. All rights reserved. Adrenal Insufficiency under Standard Dosage of Glucocorticoid Replacement after Unilateral Adrenalectomy for Cushing’s Syndrome Tue, 07 Jun 2016 09:54:50 +0000 Glucocorticoid replacement is needed for patients after adrenal surgery for Cushing’s syndrome; however, the adequate dosage is not easily determined. The patient was a 62-year-old woman who has had hypertension for 5 years and presented with heart failure due to hypertrophic cardiomyopathy. She consulted with us because of general fatigue, facial edema, and muscle weakness and was diagnosed with Cushing’s syndrome. A laparoscopic left adrenalectomy was performed, standard dosage of postoperative replacement was administered, and she was discharged with 30 mg/day of hydrocortisone (cortisol). However, she suffered from loss of appetite and was transferred to an emergency unit with the symptoms of adrenal insufficiency on postoperative day 15. After initial hydrocortisone replacement with 200 mg/day, the dosage was gradually decreased during hospitalization; however, reduction of hydrocortisone dosage lower than 60 mg/day was difficult because of nausea and fatigue. Her circadian cortisol profile after hydrocortisone administration showed delayed and lowered peaks, which suggested that hydrocortisone absorption in the intestine was impaired. Therefore, complicated heart failure may have led to the adrenal insufficiency in the patient. In such cases, we should consider postoperative administration of more than the standard dosage of hydrocortisone to avoid adrenal insufficiency after surgery for Cushing’s syndrome. Kentaro Fujii, Kazutoshi Miyashita, Isao Kurihara, Ken Hiratsuka, Seiji Sato, Kenichi Yokota, Sakiko Kobayashi, Hirotaka Shibata, and Hiroshi Itoh Copyright © 2016 Kentaro Fujii et al. All rights reserved. A Case of Glucocorticoid Remediable Aldosteronism and Thoracoabdominal Aneurysms Sun, 05 Jun 2016 07:46:03 +0000 Glucocorticoid remediable aldosteronism (GRA) is rare familial form of primary aldosteronism characterized by a normalization of hypertension with the administration of glucocorticoids. We present a case of GRA and thoracoabdominal aneurysm complicated by multiple aortic dissections requiring complex surgical and endovascular repairs. Registry studies have shown a high rate of intracranial aneurysms in GRA patients with high case fatality rates. The association of thoracoabdominal aneurysms with GRA has not been described, thus far, in literature. Studies have shown that high tissue aldosterone levels concomitant with salt intake have a significant role in the pathogenesis of aneurysms and this may explain the formation of aneurysms in the intracranial vasculature and aorta. The association of GRA with thoracic aortic aneurysms needs to be further studied to develop screening recommendations for early identification and optimal treatment. Also, the early use of mineralocorticoid antagonists may have a significant preventive and attenuating effect in aneurysm formation, an association which needs to be confirmed in future studies. Anahita Shahrrava, Sunnan Moinuddin, Prajwal Boddu, and Rohan Shah Copyright © 2016 Anahita Shahrrava et al. All rights reserved. Recurrent Thyrotoxicosis due to Both Graves’ Disease and Hashimoto’s Thyroiditis in the Same Three Patients Tue, 31 May 2016 13:44:42 +0000 Hashimoto’s thyroiditis (HT) and Graves’ disease (GD) are the 2 most common autoimmune disease processes affecting the thyroid gland. The relationship between the two is complex and not clearly understood. It has been theorized that HT and GD are 2 separate disease processes due to unique genetic differences demonstrated by genome studies. On the other hand, based on occurrence of both HT and GD in monozygotic twins and within the same family, they have been regarded to represent 2 ends of the same spectrum. This case report describes 3 patients who presented with thyrotoxicosis due to both GD and HT. The initial presentation was thyrotoxicosis due to GD treated with antithyroid medication followed by temporary resolution. They all subsequently experienced recurrence of thyrotoxicosis in the form of Hashitoxicosis due to HT, and then eventually all developed thyrotoxicosis due to GD, requiring radioablation therapy. Ashley Schaffer, Vidya Puthenpura, and Ian Marshall Copyright © 2016 Ashley Schaffer et al. All rights reserved. Levothyroxine Tablet Malabsorption Associated with Gastroparesis Corrected with Gelatin Capsule Formulation Mon, 16 May 2016 07:46:25 +0000 Treatment of hypothyroidism with levothyroxine sodium often requires multiple dose adjustments and can be complicated by patients with gastric and intestinal dysfunction that limits absorption. In these cases, doses are often titrated higher than commonly used in clinical practice. Multiple formulations of levothyroxine are currently available and some may be preferred in cases of malabsorption. We report a case of a 42-year-old female who presented with a living unrelated kidney transplant evaluation with myxedema while being treated with levothyroxine sodium tablets. She was noted to have gastroparesis secondary to Type I diabetes mellitus which may have contributed to levothyroxine malabsorption. Changing to a gelatin capsule formulation quickly corrected her thyroid function assays. This case suggests that gastroparesis may affect absorption of levothyroxine tablets and the gelatin capsules may be an effective alternative therapy. David P. Reardon and Peter S. Yoo Copyright © 2016 David P. Reardon and Peter S. Yoo. All rights reserved. Cerebral Malaria: An Unusual Cause of Central Diabetes Insipidus Sun, 08 May 2016 11:17:33 +0000 Central diabetes insipidus is an uncommon feature of malaria. A previously healthy 72-year-old man presented with fever, rigors, and altered mental status after a recent trip to Liberia, a country known for endemic falciparum malaria. Investigations confirmed plasmodium falciparum parasitemia. Within one week after admission, the serum sodium rose to 166 mEq/L and the urine output increased to 7 liters/day. Other labs were notable for a high serum osmolality, low urine osmolality, and low urine specific gravity. The hypernatremia did not respond to hypotonic fluids. Diabetes insipidus was suspected and parenteral desmopressin was started with a prompt decrease in urinary output and improvement in mental status. Additional testing showed normal anterior pituitary hormones. The desmopressin was eventually tapered off with complete resolution of symptoms. Central diabetes insipidus occurred likely as a result of obstruction of the neurohypophyseal microvasculature. Other endocrinopathies that have been reported with malaria include hyponatremia, adrenal insufficiency, hypothyroidism, hypocalcemia, hypophosphatemia, hyper-, and hypoglycemia, but none manifested in our patient. Though diabetes insipidus is a rare complication of malaria, clinicians need to be aware of this manifestation, as failure to do so may lead to fatality particularly if the patient is dehydrated. Resmi Premji, Nira Roopnarinesingh, Joshua Cohen, and Sabyasachi Sen Copyright © 2016 Resmi Premji et al. All rights reserved. Panhypopituitarism due to Absence of the Pituitary Stalk: A Rare Aetiology of Liver Cirrhosis Sun, 24 Apr 2016 06:54:44 +0000 Studies have established a relationship between hypothalamic-pituitary dysfunction and the onset of liver damage, which may occasionally progress to cirrhosis. Patients with hypopituitarism can develop a metabolic syndrome-like phenotype. Insulin resistance is the main pathophysiological axis of metabolic syndrome and is the causal factor in the development of nonalcoholic fatty liver disease (NAFLD). We present the case of a young patient with liver cirrhosis of unknown aetiology that was finally attributed to panhypopituitarism. Marta Gonzalez Rozas, Lidia Hernanz Roman, Diego Gonzalez Gonzalez, and José Luis Pérez-Castrillón Copyright © 2016 Marta Gonzalez Rozas et al. All rights reserved. Gigantomastia and Macroprolactinemia Responding to Cabergoline Treatment: A Case Report and Minireview of the Literature Mon, 18 Apr 2016 09:52:52 +0000 Background. Macroprolactinemia is defined as predominance of high molecular weight prolactin forms in the circulation. Although macroprolactin is considered as a biologically inactive molecule, some authorities suggest treatment in symptomatic cases. Gigantomastia is defined as excess breast tissue and most cases in the literature were treated by surgical intervention. Case. A 44-year-old woman was admitted to our clinic with gigantomastia and galactorrhea. The patient had a demand for surgical therapy. In laboratory examination, she had hyperprolactinemia and macroprolactinemia. Pituitary imaging revealed 6 mm microadenoma in right side of the hypophysis. Since she was symptomatic, cabergolin treatment was started. Macroprolactin became negative, breast circumference decreased significantly, and galactorrhea resolved after treatment. Conclusion. Gigantomastia might be the presenting symptom in patients with macroprolactinemia. In these patients medical treatment with cabergoline may be used initially as an alternative to surgical approach. Fatma Dilek Dellal, Didem Ozdemir, Cevdet Aydin, Gulfem Kaya, Reyhan Ersoy, and Bekir Cakir Copyright © 2016 Fatma Dilek Dellal et al. All rights reserved. Primary Mucosa-Associated Lymphoid Tissue Lymphoma of Thyroid with the Serial Ultrasound Findings Wed, 23 Mar 2016 13:55:39 +0000 Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT) of the thyroid gland is uncommon. Even though its natural history is not well defined, it is known to be indolent course. We present a case of primary MALT thyroid lymphoma with the serial sonographic findings in the patient presenting as the focal nodule. A 45-year-old woman visited our hospital for neck examination. Initially, fine-needle aspiration cytology in the focal hypoechoic lesion in the left thyroid lobe on ultrasound sonography was performed and consistent with Hashimoto’s thyroiditis. However, the results of serial ultrasounds and core-needle biopsy revealed an extranodal marginal zone lymphoma of MALT on 4-year follow-up. Patients with a focal hypoechoic nodule with linear echogenic strands and segmental pattern in the background of Hashimoto’s thyroiditis on ultrasonography should undergo careful surveillance for malignancy. Serial sonographic features in this case are meaningful in the understanding of the natural history of the extranodal marginal zone lymphoma of MALT of the thyroid. Eon Ju Jeon, Ho Sang Shon, and Eui Dal Jung Copyright © 2016 Eon Ju Jeon et al. All rights reserved. Large Multinodular Toxic Goiter: Is Surgery Always Necessary? Wed, 23 Mar 2016 12:15:40 +0000 Patients suffering from multinodular toxic goiter (MNTG) are candidates to thyroidectomy or radioiodine 131I (131I) therapy. Thyroidectomy may be preferable especially when the volume of hyperfunctioning tissue is so large that a single administration of 131I is unlikely to cure the patient in terms of nodule’s volume reduction and thyroid function. We describe the case of a 71-year-old man suffering from thyrotoxic state for the presence of two large hyperfunctioning thyroid nodules. As the patient refused surgery, at first we administered 600 MBq dose of 131I, which was unable to solve hyperthyroidism and local compressive symptoms. Then, before administering another 131I dose, the patient underwent a laser ablation treatment (LAT) in both nodules. After a significant shrinkage due to LAT, the patient received 400 MBq 131I. This procedure was able to definitely cure hyperthyroidism, to induce a significant reduction of nodules’ volume, and to render the patient asymptomatic for compressive symptoms. This case demonstrates that 131I preceded by LAT represents a valid alternative strategy to surgery, even in the presence of two large coexistent hot nodules. Roberto Negro and Gabriele Greco Copyright © 2016 Roberto Negro and Gabriele Greco. All rights reserved. Nonsuppressible Oral Dexamethasone Suppression Tests but Not Cushing Syndrome Tue, 22 Mar 2016 15:58:24 +0000 In spite of the presence of definitive diagnostic criteria to diagnose Cushing syndrome diagnosis may become challenging. We report a young female with mild clinical features of Cushing syndrome, who had nonsuppressible oral dexamethasone suppression tests; also she had a suspicious pituitary lesion. She underwent pituitary surgery and a pituitary microadenoma (non-ACTH staining) was removed. Now she had come to us with similar complaints to those before. Again she had nonsuppressible oral dexamethasone suppression tests. As the diurnal variation of serum and salivary cortisol was maintained and urinary free cortisol was normal, further evaluation with IV dexamethasone suppression test was performed which clearly ruled out Cushing syndrome. The patient was not on any medicines known to alter dexamethasone metabolism. Fat malabsorption was also ruled out using appropriate tests. The reason for this discrepancy is thought to be altered (increased) metabolism of dexamethasone in this patient as it is widely variable in the general population. Abilash Nair, Atul Dhingra, Anjana Gopi, and Viveka P. Jyotsna Copyright © 2016 Abilash Nair et al. All rights reserved. Cervical Paraganglioma Mimicking Thyroid Nodule: A Rare Clinical Case Tue, 15 Mar 2016 12:01:43 +0000 Objective. Paraganglioma is a rare neuroendocrine tumor. When it is located in the neck, it is commonly misdiagnosed as other thyroid neoplasms. Case Report. We report a case of cervical paraganglioma in a 55-year-old female. Patient was admitted to our clinic with goiter and neck pain. Thyroid ultrasonography revealed a 20 mm solitary, heterogeneous nodule located in the upper pole of left thyroid lobe. Fine needle aspiration cytology was nondiagnostic. She underwent left lobectomy and histopathology showed paraganglioma. Discussion. Cervical paragangliomas should be considered in the differential diagnosis of thyroid nodules. Berna İmge Aydoğan, Serpil Dizbay Sak, and Sevim Güllü Copyright © 2016 Berna İmge Aydoğan et al. All rights reserved. Amyloid Goiter Secondary to Ulcerative Colitis Tue, 08 Mar 2016 12:11:58 +0000 Diffuse amyloid goiter (AG) is an entity characterized by the deposition of amyloid in the thyroid gland. AG may be associated with either primary or secondary amyloidosis. Secondary amyloidosis is rarely caused by inflammatory bowel diseases. Secondary amyloidosis is relatively more common in the patients with Crohn’s disease, whereas it is highly rare in patients with ulcerative colitis. Diffuse amyloid goiter caused by ulcerative colitis is also a rare condition. In the presence of amyloid in the thyroid gland, medullary thyroid cancer should be kept in mind in the differential diagnosis. Imaging techniques and biochemical tests are not very helpful in the diagnosis of secondary amyloid goiter and the definitive diagnosis is established based on the histopathologic analysis and histochemical staining techniques. In this report, we present a 35-year-old male patient with diffuse amyloid goiter caused by secondary amyloidosis associated with ulcerative colitis. Bunyamin Aydin, Yavuz Savas Koca, Tugba Koca, Ihsan Yildiz, Sevda Gerek Celikden, and Metin Ciris Copyright © 2016 Bunyamin Aydin et al. All rights reserved. Hashimoto’s Thyroiditis and Graves’ Disease in One Patient: The Extremes of Thyroid Dysfunction Associated with Interferon Treatment Wed, 02 Mar 2016 09:01:58 +0000 Autoimmune thyroid disease associated with interferon therapy can manifest as destructive thyroiditis, Graves’ Hyperthyroidism, and autoimmune (often subclinical) hypothyroidism, the latter persisting in many patients. There are scare reports of a single patient developing extremes of autoimmune thyroid disease activated by the immunomodulatory effects of interferon. A 60-year-old man received 48 weeks of pegylated interferon and ribavirin therapy for chronic HCV. Six months into treatment, he reported fatigue, weight gain, and slowed cognition. Serum thyroid stimulating hormone (TSH) was 58.8 mIU/L [0.27–4.2], fT4 11.1 pmol/L [12–25], and fT3 4.2 pmol/L [2.5–6.0] with elevated anti-TPO (983 IU/mL [<35]) and anti-TG (733 U/mL [<80]) antibodies. He commenced thyroxine with initial clinical and biochemical resolution but developed symptoms of hyperthyroidism with weight loss and tremor 14 months later. Serum TSH was <0.02 mIU/L, fT4 54.3 pmol/L, and fT3 20.2 pmol/L, with an elevated TSH receptor (TRAb, 4.0 U/L [<1.0]), anti-TPO (1,163 IU/mL) and anti-TG (114 U/mL) antibodies. Technetium scan confirmed Graves’ Disease with bilateral diffuse increased tracer uptake (5.9% [0.5–3.5%]). The patient commenced carbimazole therapy for 6 months. Treatment was ceased following spontaneous clinical and biochemical remission (TSH 3.84 mIU/L, fT4 17pmol/L, fT3 4.5 pmol/L, and TRAb <1 U/L). This raises the need to monitor thyroid function closely in patients both during and following completion of interferon treatment. R. H. Bishay and R. C. Y. Chen Copyright © 2016 R. H. Bishay and R. C. Y. Chen. All rights reserved. A Case Report of Dramatically Increased Thyroglobulin after Lymph Node Biopsy in Thyroid Carcinoma after Total Thyroidectomy and Radioiodine Mon, 29 Feb 2016 18:46:56 +0000 Thyroglobulin (Tg) is an important modality for monitoring patients with thyroid cancers, especially after thyroidectomy followed by radioiodine (RAI). It is also used as a marker for burden of thyroid tissue whether malignant or benign. Although there have been several reports of rising serum Tg transiently after thyroid biopsy in intact glands and following palpation or trauma, there are no reports in the literature of elevation in Tg after biopsy of suspicious lesions in thyroidectomized patients. In this paper we report a fascinating case of a considerable and initially worrying, although ultimately transient, rise in Tg in a patient 2 years after total thyroidectomy and RAI ablation after fine needle aspiration (FNA) of a suspicious thyroid bed nodule that was proven positive. Mandana Moosavi and Stuart Kreisman Copyright © 2016 Mandana Moosavi and Stuart Kreisman. All rights reserved. Thyroid Ultrasound Pitfalls: Esophageal Fibrovascular Polyp Mimicking Thyroid Nodule Sun, 28 Feb 2016 08:14:21 +0000 Background. Ultrasound (US) is the most accurate tool in the diagnosis of thyroid nodules if performed by expert physician. Misdiagnosis due to extrathyroidal lesions mimicking thyroid nodules is reported in literature. We describe the first case of an esophageal fibrovascular polyp misdiagnosed as a thyroid nodule on US examination. Patient Findings. A 54-year-old woman presented to emergency department for headache and underwent carotid Doppler extended to neck ultrasound with incidental finding of a nodule in the posterior side of the left thyroid lobe. A following thyroid US performed by an endocrinologist allowed the characterization of the lesion as an esophageal pathology, considering the extrathyroidal position, the typical peripheral hyperechoic spots and hypoechoic rim, the connection to the esophagus, and the swallowing connected movement. The patient was addressed to further investigations and finally to anterior pharyngotomy with histological diagnosis of esophageal fibrovascular polyp. Summary. Differential diagnosis between thyroid nodules and other neck lesions is important to prevent an unnecessary fine needle aspiration biopsy and to treat the extrathyroidal pathology. In this case, an US performed by an expert endocrinologist allowed detecting an esophageal fibrovascular polyp requiring surgical removal. In conclusion, the possibility of an esophageal pathology, and even fibrovascular polyp, should be considered during US thyroid examination. Anna Ansaloni, G. Brigante, and B. Madeo Copyright © 2016 Anna Ansaloni et al. All rights reserved. Mifepristone Improves Octreotide Efficacy in Resistant Ectopic Cushing’s Syndrome Wed, 17 Feb 2016 11:40:08 +0000 A 30-year-old Caucasian man presented with severe Cushing’s syndrome (CS) resulting from ectopic adrenocorticotropin syndrome (EAS) from a metastatic pancreatic neuroendocrine tumor. The patient remained hypercortisolemic despite treatment with steroidogenesis inhibitors, chemotherapy, and octreotide long-acting release (LAR) and was enrolled in a 24-week, phase 3 clinical trial of mifepristone for inoperable hypercortisolemia. After mifepristone was added to ongoing octreotide LAR treatment, EAS symptoms essentially resolved. Cortisol decreased dramatically, despite mifepristone’s competitive glucocorticoid receptor antagonist effects. The clinical and biochemical effects reversed upon mifepristone discontinuation despite the continued use of octreotide LAR therapy. Substantial improvement in octreotide LAR efficacy with mifepristone use was noted in this patient with ectopic CS, consistent with upregulation of somatostatin receptors previously downregulated by hypercortisolemia. Andreas G. Moraitis and Richard J. Auchus Copyright © 2016 Andreas G. Moraitis and Richard J. Auchus. All rights reserved. Acute Kidney Injury Associated with Linagliptin Sun, 14 Feb 2016 13:52:14 +0000 Linagliptin is a dipeptidyl peptidase-IV (DPP-IV) inhibitor that is approved for the treatment of type 2 diabetes mellitus. About 5% of linagliptin is eliminated by the kidneys and no dose adjustment is recommended in kidney impairment. We report a first case of linagliptin-associated acute kidney injury (AKI) in a patient with preexisting chronic kidney disease (CKD). We hypothesize that AKI was due to renal hypoperfusion from linagliptin-induced natriuresis and intravascular volume contraction in the setting of concomitant lisinopril use, which is known to impair autoregulation and potentiate hypotension-induced AKI. It may be prudent to exert caution and closely monitor kidney function when initiating linagliptin in combination with ACE-inhibitors in CKD patients. Deepak K. Nandikanti, Elvira O. Gosmanova, and Aidar R. Gosmanov Copyright © 2016 Deepak K. Nandikanti et al. All rights reserved. Pegvisomant-Induced Cholestatic Hepatitis in an Acromegalic Patient with UGT1A128 Mutation Tue, 09 Feb 2016 14:06:46 +0000 Pegvisomant (PEGv) is a growth hormone receptor antagonist approved for the treatment of acromegaly; one of its documented adverse effects is reversible elevation of hepatic enzymes. We report a 39-year-old male acromegalic patient with a pituitary macroadenoma who underwent transsphenoidal surgery. The patient’s condition improved but GH and IGF-I levels did not normalize; as a consequence, we first administered dopamine agonists and then somatostatin receptor ligands (SRLs) with poor response. PEGv 15 mg every other day was added to lanreotide 120 mg monthly. The patient developed a severe hepatitis five months after starting the combination therapy. Elevated ferritin, iron, and transferrin saturation suggested probable hepatitis due to haemochromatosis. We performed a liver biopsy which showed an acute cholestatic hepatitis consistent with toxic etiology. A heterozygous genotype UGT1A128 polymorphism associated with Gilbert’s syndrome was also found in this Argentine patient. The predominant clinical presentation resembled an acute cholestatic hepatitis associated with severe hemosiderosis, a different and new pattern of PEGv hepatotoxicity. Maria Susana Mallea-Gil, Ignacio Bernabeu, Adriana Spiraquis, Alejandra Avangina, Lourdes Loidi, and Carolina Ballarino Copyright © 2016 Maria Susana Mallea-Gil et al. All rights reserved. Thyroid Swelling and Thyroiditis in the Setting of Recent hCG Injections and Fine Needle Aspiration Thu, 28 Jan 2016 08:59:46 +0000 A 60-year-old woman presented with a neck mass and underwent fine needle aspiration of a left thyroid nodule. During this time, she had been injected with hCG for weight loss. Soon after, she developed rapid diffuse thyroid growth with pain. She was ultimately diagnosed with thyrotoxicosis due to postaspiration subacute thyroiditis and subsequently became hypothyroid. This condition is rare in the nonpregnant state in noncystic nodules with a smaller needle gauge approach. The incidence of thyroid nodule discovery and evaluation is increasing. As more procedures are undertaken, understanding of potential complications is important. This case highlights potential complications of thyroid fine needle aspiration including diffuse thyroid swelling and thyroiditis. The role of hCG injections is speculated to have potentially stimulated thyroid follicular epithelium via cross-reactivity with the TSH receptor and contributed to the acute inflammatory response after fine needle aspiration. Elizabeth M. Lamos and Kashif M. Munir Copyright © 2016 Elizabeth M. Lamos and Kashif M. Munir. All rights reserved. An Ectopic ACTH Secreting Metastatic Parotid Tumour Wed, 20 Jan 2016 09:19:12 +0000 A 60-year old woman presented with features of Cushing’s syndrome (CS) secondary to an ectopic adrenocorticotropic hormone (ACTH) secreting metastatic parotid tumour 3 years after excision of the original tumour. She subsequently developed fatal intestinal perforation and unfortunately died despite best possible medical measures. Ectopic ACTH secretion accounts for 5–10% of all patients presenting with ACTH dependent hypercortisolism; small cell carcinoma of lung (SCLC) and neuroendocrine tumours (NET) account for the majority of such cases. Although there are 4 previous case reports of ectopic ACTH secreting salivary tumours in literature, to our knowledge this is the first published case report in which the CS developed after 3 years of what was deemed as a successful surgical excision of primary salivary tumour. Our patient initially had nonspecific symptoms which may have contributed to a delay in diagnosis. Perforation of sigmoid colon is a recognised though underdiagnosed complication associated with steroid therapy and hypercortisolism. This case demonstrates the challenges faced in diagnosis as well as management of patients with CS apart from the practical difficulties faced while trying to identify source of ectopic ACTH. Thomas Dacruz, Atul Kalhan, Majid Rashid, and Kofi Obuobie Copyright © 2016 Thomas Dacruz et al. All rights reserved.