Case Reports in Endocrinology https://www.hindawi.com The latest articles from Hindawi © 2017 , Hindawi Limited . All rights reserved. Simultaneous Papillary Carcinoma in Thyroglossal Duct Cyst and Thyroid Wed, 08 Feb 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/8541078/ Thyroglossal duct cyst (TDC) is a cystic expansion of a remnant of the thyroglossal duct tract. Carcinomas in the TDC are extremely rare and are usually an incidental finding after the Sistrunk procedure. In this report, an unusual case of a 36-year-old woman with concurrent papillary thyroid carcinoma arising in the TDC and on the thyroid gland is presented, followed by a discussion of the controversies surrounding the possible origins of a papillary carcinoma in the TDC, as well as the current management options. Gustavo Cancela e Penna, Henrique Gomes Mendes, Adele O. Kraft, Cynthia Koeppel Berenstein, Bernardo Fonseca, Wagner José Martorina, Andreise Laurian N. R. de Souza, Gustavo Meyer de Moraes, Kamilla Maria Araújo Brandão Rajão, and Bárbara Érika Caldeira Araújo Sousa Copyright © 2017 Gustavo Cancela e Penna et al. All rights reserved. False Positive Findings on I-131 WBS and SPECT/CT in Patients with History of Thyroid Cancer: Case Series Thu, 26 Jan 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/8568347/ Introduction. Although whole body scan (WBS) with I-131 is a highly sensitive tool for detecting normal thyroid tissue and metastasis of differentiated thyroid cancer (DTC), it is not specific. Additional information, provided by single photon emission computed tomography combined with X-ray computed tomography (SPECT/CT) and by the serum thyroglobulin level, is extremely useful for the interpretation of findings. Case Presentation. We report four cases of false positive WBS in patients with DTC: ovarian uptake corresponding to an endometrioma, scrotal uptake due to a spermatocele, rib-cage uptake due to an old fracture, and hepatic and renal uptake secondary to a granuloma and simple cyst, respectively. Conclusions. Trapping, organification, and storage of iodine are more prominent in thyroid tissue but not specific. Physiologic sodium-iodine symporter expression in other tissues explains some, but not all, of the WBS false positive cases. Other proposed etiologies are accumulation of radioiodine in inflamed organs, metabolism of radiodinated thyroid hormone, presence of radioiodine in body fluids, and contamination. In our cases nonthyroidal pathologies were suspected since the imaging findings were not corroborated by an elevated thyroglobulin level, which is considered a reliable tumor marker for most well-differentiated thyroid cancers. Clinicians should be aware of the potential pitfalls of WBS in DTC to avoid incorrect management. Zeina C. Hannoush, Juan D. Palacios, Russ A. Kuker, and Sabina Casula Copyright © 2017 Zeina C. Hannoush et al. All rights reserved. Hypercalcemia of Malignancy in Thymic Carcinoma: Evolving Mechanisms of Hypercalcemia and Targeted Therapies Thu, 12 Jan 2017 00:00:00 +0000 http://www.hindawi.com/journals/crie/2017/2608392/ Here we describe, to our knowledge, the first case where an evolution of mechanisms responsible for hypercalcemia occurred in undifferentiated thymic carcinoma and discuss specific management strategies for hypercalcemia of malignancy (HCM). Case Description. We report a 26-year-old male with newly diagnosed undifferentiated thymic carcinoma associated with HCM. Osteolytic metastasis-related hypercalcemia was presumed to be the etiology of hypercalcemia that responded to intravenous hydration and bisphosphonate therapy. Subsequently, refractory hypercalcemia persisted despite the administration of bisphosphonates and denosumab indicative of refractory hypercalcemia. Elevated 1,25-dihydroxyvitamin D was noted from the second admission with hypercalcemia responding to glucocorticoid administration. A subsequent PTHrP was also elevated, further supporting multiple mechanistic evolution of HCM. The different mechanisms of HCM are summarized with the role of tailoring therapies based on the particular mechanism underlying hypercalcemia discussed. Conclusion. Our case illustrates the importance of a comprehensive initial evaluation and reevaluation of all identifiable mechanisms of HCM, especially in the setting of recurrent and refractory hypercalcemia. Knowledge of the known and possible evolution of the underlying mechanisms for HCM is important for application of specific therapies that target those mechanisms. Specific targeting therapies to the underlying mechanisms for HCM could positively affect patient outcomes. Cheng Cheng, Jose Kuzhively, and Sanford Baim Copyright © 2017 Cheng Cheng et al. All rights reserved. Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years Mon, 09 Jan 2017 14:47:38 +0000 http://www.hindawi.com/journals/crie/2017/4709262/ Congenital hyperinsulinism (CHI) caused by a glucokinase- (GCK-) activating mutation shows autosomal dominant inheritance, and its severity ranges from mild to severe. A 43-year-old female with asymptomatic hypoglycemia (47 mg/dL) was diagnosed as partial adrenal insufficiency and the administration of hydrocortisone (10 mg/day) was initiated. Twelve years later, her 8-month-old grandchild was diagnosed with CHI. Heterozygosity of exon 6 c.590T>C (p.M197T) was identified in a gene analysis of GCK, which was also detected in her son and herself. The identification of GCK-activating mutations in hyperinsulinemic hypoglycemia patients may be useful for a deeper understanding of the pathophysiology involved and preventing unnecessary glucocorticoid therapy. Kae Morishita, Chika Kyo, Takako Yonemoto, Rieko Kosugi, Tatsuo Ogawa, and Tatsuhide Inoue Copyright © 2017 Kae Morishita et al. All rights reserved. Isolated Liver Metastasis in Hürthle Cell Thyroid Cancer Treated with Microwave Ablation Mon, 09 Jan 2017 12:37:47 +0000 http://www.hindawi.com/journals/crie/2017/2790741/ Hürthle cell thyroid cancer (HCTC) is a less common form of differentiated thyroid cancer. It rarely metastasizes to the liver, and when it does, the metastasis is almost never isolated. Here we report a 62-year-old male with widely invasive Hürthle cell thyroid cancer, who underwent total thyroidectomy and received adjuvant treatment with I-131 with posttreatment scan showing no evidence of metastatic disease. His thyroglobulin however continued to rise after that and eventually an isolated liver metastasis was identified. He underwent laparoscopic microwave ablation of the liver metastasis, with dramatic decline in thyroglobulin and no structural disease identified to date. This case highlights the rare occurrence of isolated liver metastasis from HCTC and also illustrates the utility of thermoablation as an alternative to surgical resection in the treatment of small isolated liver metastases from HCTC. Konstantinos Segkos, Carl Schmidt, and Fadi Nabhan Copyright © 2017 Konstantinos Segkos et al. All rights reserved. Horner Syndrome Secondary to Thyroid Surgery Wed, 04 Jan 2017 09:54:14 +0000 http://www.hindawi.com/journals/crie/2017/1689039/ Horner syndrome (HS), caused by an interruption in the oculosympathetic pathway, is characterised by myosis, ipsilateral blepharoptosis, enophthalmos, facial anhydrosis, and vascular dilation of the lateral part of the face. HS is a rare complication of thyroidectomy. A 15-year-old female patient presented with solitary solid and large nodule in the right thyroid lobe. Ultrasound-guided fine-needle aspiration was performed and the cytological examination results were undefined. The patient underwent a total thyroidectomy. On postoperative day 2, she developed right-sided myosis and upper eyelid ptosis. HS was diagnosed. Interestingly, the patient exhibited an incomplete clinical syndrome with the absence of vasomotor symptoms. We herein report a case of HS in a 15-year-old female patient after total thyroidectomy. The possible causes of HS were ischaemia-induced nerve damage and stretching of the cervical sympathetic chain by the retractor during thyroidectomy. Clinicians should be aware of the possibility of this rare but important surgical complication. Meliha Demiral, Ciğdem Binay, Enver Simsek, and Hüseyin Ilhan Copyright © 2017 Meliha Demiral et al. All rights reserved. Vasopressin Bolus Protocol Compared to Desmopressin (DDAVP) for Managing Acute, Postoperative Central Diabetes Insipidus and Hypovolemic Shock Tue, 03 Jan 2017 10:40:41 +0000 http://www.hindawi.com/journals/crie/2017/3052102/ Introduction. Management of postoperative central diabetes insipidus (DI) can be challenging from changes in volume status and serum sodium levels. We report a case successfully using a dilute vasopressin bolus protocol in managing hypovolemic shock in acute, postoperative, central DI. Case Report. Patient presented after bifrontal decompressive craniotomy for severe traumatic brain injury. He developed increased urine output resulting in hypovolemia and hypernatremia. He was resuscitated with intravenous fluids including a dilute vasopressin bolus protocol. This protocol consisted of 1 unit of vasopressin in 1 liter of 0.45% normal saline. This protocol was given in boluses based on the formula: urine output minus one hundred. Initial serum sodium was 148 mmol/L, and one-hour urine output was 1 liter. After 48 hours, he transitioned to 1-desamino-8-D-arginine vasopressin (DDAVP). Pre-DDAVP serum sodium was 149 mmol/L and one-hour urine output 320 cc. Comparing the bolus protocol to the DDAVP protocol, the average sodium was 143.8 ± 3.2 and 149.6 ± 3.2 mmol/L (), average urine output was 433.2 ± 354.4 and 422.3 ± 276.0 cc/hr (), and average specific gravity was 1.019 ± 0.009 and 1.016 ± 0.01 (), respectively. Conclusion. A protocol using dilute vasopressin bolus can be an alternative for managing acute, central DI postoperatively, particularly in setting of hypovolemic shock resulting in a consistent control of serum sodium. Anukrati Shukla, Syeda Alqadri, Ashley Ausmus, Robert Bell, Premkumar Nattanmai, and Christopher R. Newey Copyright © 2017 Anukrati Shukla et al. All rights reserved. Artifactual Hypoglycaemia in Systemic Sclerosis and Raynaud’s Phenomenon: A Clinical Case Report and Short Review Wed, 28 Dec 2016 13:19:21 +0000 http://www.hindawi.com/journals/crie/2016/7390927/ Background. Artifactual hypoglycaemia, defined as a discrepancy between glucometer (capillary) and plasma glucose levels, may lead to overtreatment and costly investigations. It is not infrequently observed in patients with Raynaud’s phenomenon due to vascular capillary distortion, yet this is clinically underappreciated. Case Report. We report a 76-year-old woman with systemic sclerosis and Raynaud’s phenomenon, who presented with upper gastrointestinal bleeding and found to have concomitant persistent hypoglycaemia (1.0–2.7mmol/L) on a point-of-care glucometer in the absence hypoglycaemic symptoms. She underwent a 2-week hospital admission, repeated glucose monitoring, hydrocortisone replacement and dextrose infusions, with consequent hyperglycaemia on plasma measurements. Clinically, she did not satisfy Whipple’s triad and radiological investigations failed to identify pituitary or pancreatic pathology. A 72-hour fast was negative for hyperinsulinaemia or exogenous insulin use and her sulphonylurea metabolite urinary screen was negative. Discussion. Treatment of low capillary blood glucose is usually met with clinical impetus to treat, even when hypoglycaemic symptoms are lacking. The correct diagnosis may have been achieved had there been an observation of her cold hands, scleroderma facies, and consideration of the likely distorted peripheral microvasculature. Early identification of this presumably rare clinical scenario may have prevented overtreatment, altered methods of monitoring, and avoided unnecessary investigations. RH Bishay and A. Suryawanshi Copyright © 2016 RH Bishay and A. Suryawanshi. All rights reserved. A 33-Year-Old Man with Gynaecomastia and Galactorrhea as the First Symptoms of Graves Hyperthyroidism Thu, 01 Dec 2016 13:44:40 +0000 http://www.hindawi.com/journals/crie/2016/1946824/ Graves’ hyperthyroidism has a various number of well-recognized manifestations. Galactorrhea is a rare manifestation in this disease. We describe a 33-year-old man who presented with the symptoms of hyperthyroidism, gynaecomastia, and galactorrhea for 2 months. Physical examination revealed goitre, gynaecomastia, and galactorrhea, bilaterally. Laboratory investigations demonstrated high free thyroxine with suppressed thyroid-stimulating hormone level together with elevated anti-TSH receptor; therefore, the diagnosis of Graves’ disease was confirmed. Other investigations to elucidate the etiology of galactorrhea were normal, so the galactorrhea was hypothesized to be caused by Graves’ disease. The gynaecomastia and galactorrhea resolved with the successful treatment of hyperthyroidism. Although the galactorrhea is extremely rare in thyrotoxicosis male patients, to the best of our knowledge, this is the third case which reported gynaecomastia and galactorrhea in male patient who presented with thyrotoxicosis. Somdul Khoohaphatthanakul and Apiradee Sriwijitkamol Copyright © 2016 Somdul Khoohaphatthanakul and Apiradee Sriwijitkamol. All rights reserved. Unusual Cushing’s Syndrome and Hypercalcitoninaemia due to a Small Cell Prostate Carcinoma Thu, 01 Dec 2016 12:09:29 +0000 http://www.hindawi.com/journals/crie/2016/6308058/ A 75-year-old man was hospitalized because of severe hypokalaemia due to ACTH dependent Cushing’s syndrome. Total body computed tomography (TBCT) and 68 Gallium DOTATATE PET/CT localized a voluminous prostate tumour. A subsequent transurethral prostate biopsy documented a small cell carcinoma positive for ACTH and calcitonin and negative for prostatic specific antigen (PSA) at immunocytochemical study; serum prostatic specific antigen (PSA) was normal. Despite medical treatments, Cushing’s syndrome was not controlled and the patient’s clinical condition progressively worsened. Surgical resection was excluded; the patient underwent a cycle of chemotherapy followed by febrile neutropenia and fatal intestinal perforation. This case report describes a rare case of Cushing’s syndrome and hypercalcitoninaemia due to a small cell carcinoma of the prostate, a rare tumour with very few therapeutic options and negative prognosis. Antonio Balestrieri, Elena Magnani, and Fiorella Nuzzo Copyright © 2016 Antonio Balestrieri et al. All rights reserved. Nodular Lymphocyte Predominant Hodgkin Lymphoma of the Thyroid Thu, 01 Dec 2016 08:09:02 +0000 http://www.hindawi.com/journals/crie/2016/8756723/ Thyroid lymphomas are rare clinical entities that may result from either the primary intrathyroid de novo or secondary thyroid gland involvement of a lymphoma. Among these, the Hodgkin’s subtype is quite uncommon, accounting for 0.6–5% of all thyroid malignancies. The authors report on a 76-year-old female presenting with a thyroid nodule that, upon surgical excision, was found to be a nodular lymphocyte predominant Hodgkin lymphoma of the thyroid. So far, thyroid involvement by this variant has never been reported. Upon reporting on this clinical case, the authors emphasize the difficulties usually found in establishing the diagnosis and in defining the best management strategy. A thorough review of the available literature is done. Carlos Tavares Bello, João Cassis, Helder Simões, and João Sequeira Duarte Copyright © 2016 Carlos Tavares Bello et al. All rights reserved. Patients with Acromegaly Presenting with Colon Cancer: A Case Series Tue, 29 Nov 2016 14:05:21 +0000 http://www.hindawi.com/journals/crie/2016/5156295/ Introduction. Frequent colonoscopy screenings are critical for early diagnosis of colon cancer in patients with acromegaly. Case Presentations. We performed a retrospective analysis of the incidental diagnoses of colon cancer from the ACCESS trial (ClinicalTrials.gov identifier: NCT01995734). Colon cancer was identified in 2 patients (4.5%). Case  1 patient was a 36-year-old male with acromegaly who underwent transsphenoidal surgery to remove the pituitary adenoma. After surgery, the patient underwent routine colonoscopy screening, which revealed a 40 mm tubular adenoma in the descending colon. A T1N1a carcinoma was surgically removed, and 1 of 22 lymph nodes was positive for metastatic disease, leading to a diagnosis of stage 3 colon cancer. Case  2 patient was a 50-year-old male with acromegaly who underwent transsphenoidal surgery to remove a 2 cm pituitary adenoma. The patient reported severe cramping and lower abdominal pain, and an invasive 8.1 cm3 grade 2 adenocarcinoma with signet rings was identified in the ascending colon and removed. Of the 37 lymph nodes, 34 were positive for the presence of tumor cells, and stage 3c colon cancer was confirmed. Conclusion. Current guidelines for colonoscopy screening at the time of diagnosis of acromegaly and at appropriate follow-up intervals should be followed. Murray B. Gordon, Samer Nakhle, and William H. Ludlam Copyright © 2016 Murray B. Gordon et al. All rights reserved. A Large Isolated Hydatid Cyst of the Adrenal Gland: A Case Report and Review of the Literature Mon, 28 Nov 2016 12:17:56 +0000 http://www.hindawi.com/journals/crie/2016/9237903/ A 44-year-old patient presented with two-year history of (R) lumbar pain. There was a strong history of childhood animals’ contact, including dogs. A brother had multiple hydatid cysts requiring surgery. Initial ultrasound showed a large (R) adrenal mass measuring  cm. Subsequent CT scan confirmed a heavily calcified cyst in the (R) adrenal gland. Hormonal studies were normal. He had an uneventful course following a total adrenalectomy. Isolated adrenal hydatid is extremely rare with an incidence of less than 0.5%; however, the diagnosis should always be suspected in all patients from an endemic area presenting with an adrenal cystic mass. Fatehi Elnour Elzein, Abdullah Aljaberi, Abdullah AlFiaar, and Abdullah Alghamdi Copyright © 2016 Fatehi Elnour Elzein et al. All rights reserved. Short-Term PTH(1-34) Therapy in Children to Correct Severe Hypocalcemia and Hyperphosphatemia due to Hypoparathyroidism: Two Case Studies Sun, 13 Nov 2016 09:39:28 +0000 http://www.hindawi.com/journals/crie/2016/6838626/ The standard treatment of hypoparathyroidism is to control hypocalcemia using calcitriol and calcium supplementation. However, in severe cases this approach is insufficient, and the risks of intravenous (i.v.) calcium administration and prolonged hospitalization must be considered. While the use of recombinant human parathyroid hormone 1-34 [rhPTH(1-34)] for long-term control of hypocalcemia has been established, the benefits of short-term rhPTH(1-34) treatment in children have not been explored. We report two patients with hypoparathyroidism treated with rhPTH(1-34). Patient 1 is a 10-year-old female with polyglandular autoimmune syndrome type 1. Patient 2 is a 12-year-old female with hypoparathyroidism after total thyroidectomy. Both patients showed poor response to i.v. and oral calcium and calcitriol, and patient 1 did not respond to phosphate binders. Patient 1 had rapid increase in serum calcium with a decrease in serum phosphate after a 3-day course of subcutaneous rhPTH(1-34). Patient 2 had normalization of calcium and phosphate levels after a 7-day course of rhPTH(1-34). These cases support a role for rhPTH(1-34) in the acute management of hypoparathyroidism in hospitalized patients to more rapidly correct hypocalcemia and hyperphosphatemia, shorten hospitalization, and reduce the need for frequent i.v. calcium boluses. Pooja E. Mishra, Betsy L. Schwartz, Kyriakie Sarafoglou, Kristen Hook, Youngki Kim, and Anna Petryk Copyright © 2016 Pooja E. Mishra et al. All rights reserved. Nonislet Cell Tumor Hypoglycemia in a Patient with Adrenal Cortical Carcinoma Thu, 10 Nov 2016 08:20:39 +0000 http://www.hindawi.com/journals/crie/2016/5731417/ Nonislet cell tumor hypoglycemia (NICTH) is a rare but serious paraneoplastic syndrome in which a tumor secretes incompletely processed precursors of insulin-like growth factor-II (IGF-II), causing hypoglycemia. Here, we report an exceptional case of NICTH caused by nonfunctioning adrenocortical carcinoma in a 39-year-old male with recurrent hypoglycemia. The patient’s serum IGF-II/IGF-I ratio had increased to 27.8. The serum level of the IGF-II/IGF-I ratio was normalized after removal of the tumor, and the hypoglycemic attacks no longer occurred after the operation. Se Won Kim, Seung-Eun Lee, Young Lyun Oh, Seokhwi Kim, Sun Hee Park, and Jae Hyeon Kim Copyright © 2016 Se Won Kim et al. All rights reserved. The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature Wed, 09 Nov 2016 07:43:16 +0000 http://www.hindawi.com/journals/crie/2016/2725486/ Background. Primary hyperparathyroidism (PHPT) and Familial Hypocalciuric Hypercalcemia (FHH) result in different maternal and fetal complications in pregnancy. Calcium to creatinine clearance ratio (CCCR) is commonly used to help distinguish these two conditions. Physiological changes in calcium handling during pregnancy and lactation can alter CCCR, making it a less useful tool to distinguish PHPT from FHH. Cases. A 25-year-old female presented with hypercalcemia and an inappropriately normal PTH. Her CCCR was 0.79% before pregnancy and rose to 1.99% in her second trimester. The proband’s mother and neonate had asymptomatic hypercalcemia. Genetic analysis revealed a CaSR mutation consistent with FHH. A 19-year-old female presented with a history of nephrolithiasis who underwent emergent caesarean section at 29 weeks of gestation for severe preeclampsia. At delivery, she was diagnosed with hypercalcemia with an inappropriately normal PTH and a CCCR of 2.67%, which fell to 0.88% during lactation. Parathyroidectomy cured her hypercalcemia. Pathology confirmed a parathyroid adenoma. Conclusion. These cases illustrate the influence of pregnancy and lactation on renal calcium indices, such as the CCCR. To avoid diagnostic error of women with hypercalcemia during pregnancy and lactation, calcium biochemistry of first-degree relatives and genetic testing of select patients are recommended. S. A. Ghaznavi, N. M. A. Saad, and L. E. Donovan Copyright © 2016 S. A. Ghaznavi et al. All rights reserved. Surgical Management of Life-Threatening Thyroid Haematoma following Occult Blunt Neck Trauma Tue, 25 Oct 2016 12:45:10 +0000 http://www.hindawi.com/journals/crie/2016/4307695/ A 42-year-old man arrived at the emergency department in severe respiratory distress, requiring immediate intubation and ventilation. An emergency computed tomography (CT) neck scan identified a substantial haematoma within a multinodular goitre, necessitating an emergency total thyroidectomy. It was later discovered that the patient had been the victim of an assault involving blunt trauma to the anterior neck. Five days postoperatively the patient was extubated and was well enough to self-discharge the following day. Pathology revealed the lesion to be a ruptured follicular adenoma within his multinodular goitre. Signs of this rare but life-threatening condition may be subtle on initial presentation, particularly if the patient is obtunded. Patients with suspected blunt neck trauma should be observed for signs of respiratory distress. If this develops, the patient should be intubated to facilitate CT scan, and if thyroid haematoma is confirmed, emergency thyroidectomy is the definitive treatment. Ronak Ved, Neil Patel, and Michael Stechman Copyright © 2016 Ronak Ved et al. All rights reserved. Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion Mon, 24 Oct 2016 07:41:40 +0000 http://www.hindawi.com/journals/crie/2016/2853178/ We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype. Furthermore, it demonstrates the necessity of close follow-up in the first year of life for children with 18p deletion syndrome and emphasizes the need to verify radiology impressions if there is any doubt as to the radiologic findings. Edward J. Bellfield, Jacqueline Chan, Sarah Durrin, Valerie Lindgren, Zohra Shad, and Claudia Boucher-Berry Copyright © 2016 Edward J. Bellfield et al. All rights reserved. Moyamoya Disease with Coexistent Hypertriglyceridemia in Pediatric Patient Mon, 24 Oct 2016 07:41:05 +0000 http://www.hindawi.com/journals/crie/2016/7974182/ Moyamoya disease is a rare chronic and progressive cerebrovascular disease of the arteries of the circle of Willis that can affect children and adults. It has been associated with multiple diseases, including immunologic, like Graves’ disease, diabetes mellitus, and SLE. Hyperlipidemia has been recognized in patients with Moyamoya disease with an incidence of 27–37%. However, no case in pediatric patients has been reported of the coexistence of Moyamoya disease and hyperlipidemia. Here we present a case of a 9-year-old female diagnosed with Moyamoya disease after a stroke with incidental finding of familial hypercholesterolemia. This finding will make our patient a very unique case, since there has not been any reporting of Moyamoya disease and hypercholesterolemia association. Jacqueline Chan, Fabiola D’Ambrosio Rodriguez, Deepank Sahni, and Claudia Boucher-Berry Copyright © 2016 Jacqueline Chan et al. 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 http://www.hindawi.com/journals/crie/2016/7546453/ 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 http://www.hindawi.com/journals/crie/2016/5191903/ 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 http://www.hindawi.com/journals/crie/2016/6364203/ 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 http://www.hindawi.com/journals/crie/2016/5218985/ 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 http://www.hindawi.com/journals/crie/2016/2691385/ 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 http://www.hindawi.com/journals/crie/2016/3016201/ 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 http://www.hindawi.com/journals/crie/2016/4709597/ 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 http://www.hindawi.com/journals/crie/2016/6312621/ 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 http://www.hindawi.com/journals/crie/2016/2743576/ 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 http://www.hindawi.com/journals/crie/2016/6785925/ 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 http://www.hindawi.com/journals/crie/2016/2347528/ 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.