Clinical Lesson Research Articles

SUN-480 An Unusual Clear Cell Carcinoma in the Thyroid. Where Is the Primary?

Background: Clear cell carcinoma in the thyroid gland is rare. It is important to distinguish primary thyroid clear cell carcinoma from metastases, since its clinical behaviors and treatment options were different. Clinical Case: A 47-year-old woman without past medical history presented to our outpatient surgery department with right neck mass for 8 months. Thyroid ultrasonography revealed a 3.9 cm nodule in the right thyroid. Thyroid function test was within the normal range. Fine needle aspiration cytology of the nodule showed suspicious for neoplasm. She underwent radical total thyroidectomy and lymph node dissection. Pathology revealed an unusual carcinoma comprising cuboidal cells with irregular nuclear contours, some eosinophilic or clear cytoplasm, arranged in infiltrating nests or cords with marked stromal hyalinization, highly suggestive of a clear cell carcinoma. Ectopic thymic tissue was present adjacent to the tumor. By immunohistochemical (IHC) staining, tumor cells were p63 (+), TTF-1 (-), thyroglobulin (-), PAX8 (-), synaptophysin (-), CD5 (-), and CD117 (-). Tumor genetic sequencing detected EWSR1-CREM fusion genes. For disease extent evaluation, two out of seven lymph nodes obtained during operation were positive of tumor metastases. Whole body computed tomography (CT) 3 months after operation revealed no residual thyroid tissue, neck lymphadenopathies or intra-abdominal metastases. A pulmonary ground-glass opacities of 7mm in diameter was found, which was stationary at a repeated CT scan 6 months later. Clinical Lesson: Clear cell carcinoma in the thyroid gland could be primary, arising from clear cell change of follicular or papillary thyroid carcinoma. The negative IHC stain of thyroglobulin, TTF, PAX8, as well as lack of papillary or follicular architecture made primary thyroid clear cell carcinoma unlikely. Most of the metastatic clear cell carcinoma to the thyroid gland arose from renal primary. However, there was no clinical or radiographic evidence of renal tumor in our case. Although ectopic thymic tissue was identified on pathology, negative IHC staining of PAX8, CD5 and CD117 made thymic origin less likely. Positive IHC staining of p63 and a novel EWSR1-CREM fusion gene confirmed the diagnosis of salivary clear cell carcinoma. According to our literature review, there were only 3 cases of clear-cell carcinoma with EWSR1-CREM fusion gene (1), and our case is the first case who presented with clear cell carcinoma in the thyroid. In conclusion, the importance of IHC stain and molecular testing in determining the primary origin of clear cell carcinoma were addressed in our case. Reference: (1) Chapman E, et al. Am J Surg Pathol. 2018;42(9):1182-1189

SAT-273 Case of Mistaken Identity?

Introduction Pituitary adenomas occur in 10-15% of patients and the majority are benign. Prolactinomas are the most common form of secretory pituitary adenoma. Pituitary apoplexy, a medical emergency with resulting visual loss and hormonal hyposecretion, requires rapid surgical intervention. We present a case of pituitary macroadenoma that underwent pituitary resection for acute visual disturbance which was later discovered to be caused by undiagnosed demyelinating disease.Clinical Case Patient is a 32-year-old male who presented initially with complain of fatigue and decreased libido. Work up revealed elevated prolactin level and low testosterone. MRI showed a 2x3cm pituitary macroadenoma. At moment of diagnosis, patient was otherwise asymptomatic. He was started on bromocriptine. During follow up visits, patient reported visual disturbance. First MRI in our clinic showed no suprasellar extension, no impingement of optic chiasm and nonspecific white matter disease. At that time, visual field testing showed left temporal defect in superior quadrant. Follow up MRI 1 year later continued to show a stable macroadenoma without impingement of the optic chiasm, but patient reported progressive left vision disturbance and new right vision loss. He was evaluated in the emergency room where he was treated for pituitary apoplexy with steroids and surgery. Vision improved the next day. Despite uncomplicated post-operative course, patient developed proximal muscle weakness and exam notable for diffuse motor deficit in bilateral lower extremities with hyperreflexia. Endocrinology workup was negative for hypercortisolism and ophthalmology diagnosed him with optic neuropathy. Neurology evaluation led to a diagnosis of multiple sclerosis (MS). Patient was started on natalizumab with complete resolution of all visual and muscle symptoms.Clinical lesson Our patient presented with complaints of fatigue, decreased libido and work up that showed a macroprolactinoma without MRI evidence of optic chiasm impingement. During treatment, he developed acute visual deficits that were attributed to pituitary apoplexy. This visual disturbance improved after surgery and use of high dose IV steroids, with the latter likely treating what had been an MS flare. In hindsight, ophthalmologic evaluation before surgery had shown new color blindness, a sign of optic neuropathy. Despite temporary relief, patient progressed to develop new muscle weakness and recurrent visual disturbance which led to the diagnosis of MS. Since being diagnosed and treated for MS, he has had complete resolution of his symptoms. This case stresses the importance of considering other etiologies for visual defects in patients with pituitary adenomas.

MON-347 Osteitis Fibrosa Cystica and Pathological Fractures: The Classic but Neglected Skeletal Manifestation of Primary Hyperparathyroidism

Background: Osteitis fibrosa cystica is one of the classic manifestations of primary hyperparathyroidism (PHPT), yet it has become increasingly rare due to early detection of PHPT. Clinical case: A 37-year-old woman was referred to our hospital for fixation of multiple fractures. Before transferring to our hospital, she was admitted to a local hospital due to right distal humerus and left tibial fractures without history of trauma. During the hospitalization, a new fracture at left femur had occurred. Her past medical history was significant for fractures of right shoulder, left elbow and right femur when she fell on the ground 5 years ago and treated by fixation. She had a history of kidney stones in the remote past. She denied family history of calcium or skeletal disorders.Clinical examination revealed gross deformities at right elbow, left thigh and painful swelling of the left tibia. On HEENT examination, there were no palpable neck masses.Upon review of plain radiographs from outside hospital, we found not only fractures but diffuse osteopenia and brown tumors at multiple sites including shaft of right humerus, right proximal radius, left proximal femoral shaft and left tibia. Skull X-ray showed salt-and-pepper appearance. There were prominent subendplate densities at multiple lumbar spines (Rugger-jersey spine). These findings were consistent with osteitis fibrosa cystica which prompted further laboratory investigation for PHPT. The patient had a high corrected serum calcium level of 13.6 (8.6-10.0) mg/dl, low serum phosphate of 2.2 (2.5-4.5) mg/dL, serum creatinine of 1.16 (0.51-0.95) mg/dL, glomerular filtration rate (GFR) of 60.29 ml/min, high serum alkaline phosphatase of 1,482 (35-105) U/L. The serum parathyroid hormone (PTH) level was significantly high at 3,850 (15-65) pg/mL. Vitamin D level was low at 5.98 (≥30) ng/mL.The patient was diagnosed with PHPT. The left lower parathyroid adenoma was identified by 99mTc-Sestamibi scan with single photon emission computed tomography and neck ultrasound. Given severe skeletal manifestations and extremely elevated PTH level, urgent parathyroidectomy was performed. A 2.5-cm parathyroid adenoma was removed which was histologically confirmed by a pathologist. Postoperatively, she developed a hungry bone syndrome which resolved 10 months after. Clinical lesson: In current practice, skeletal manifestation of PHPT is uncommon with a reported incidence of 1.4% in US. Osteitis fibrosa cystica is a radiographic feature of PHPT characterized by demineralized skeleton, salt-and-pepper appearance of the skull, subperiosteal resorption of the phalanges, bone cysts, and brown tumors. Although PHPT has evolved to asymptomatic disease in majority of patients, the classic skeletal involvement should not be overlooked, particularly in young patients who present with multiple pathological fractures.

Co-Occurrence of Submucosal Schwannoma and Low-Grade Mucinous Neoplasm in the Appendix, a Clinical Conundrum : A Case Report

Two and more types of tumors rarely occur in the appendix, a constrained space of the human body. We experienced a rare co-occurrence of schwannoma and low-grade mucinous neoplasm (LAMN) in the appendix and obtained a lesson to scrutinize the radiological images in the follow-up period. A computer tomography (CT) performed for surveillance of bile duct stone of a 68-year-old man incidentally detected the appendiceal tumor, which characteristics were not clear at that time, 1-year before admission because of epigastric pain due to acute cholecystitis. CT showed enlargement of tumor in the appendix, and laparoscopic ileocecal resection and cholecystectomy were performed under the diagnosis of acute cholecystectomy and appendiceal tumor. Histopathological examination revealed two types of appendiceal tumors, schwannoma and low-grade appendiceal neoplasm. To the best of our knowledge, co-occurrence of schwannoma and LAMN has never been reported and this complicated our interpretation of clinical images during the course. We report a clinical lesson in handling this rare combination of tumors in the appendix with the relevant literature.

Priorities: Reflections on an invaluable clinical lesson.

Priorities: Reflections on an invaluable clinical lesson.

SUN-599 A Case Of Synchronous Follicular, Medullary, And Follicular Variant Of Papillary Carcinoma In A Single Thyroid Gland: A Lesson In Integrating Management

Background: The presence of multiple distinct types of thyroid cancer within the same thyroid gland has been described but is rare. Medullary thyroid carcinoma is managed differently from other forms of differentiated thyroid cancer when presenting solely. Clinical Case: A 59 year old woman presented to her primary care provider complaining of a neck lump. A thyroid ultrasound revealed a 3.4 cm right thyroid lobe nodule. FNA was performed and suspicious for a follicular neoplasm. A right hemithyroidectomy and isthmusectomy revealed a 3.0 cm at least minimally invasive follicular carcinoma with involved margins with pathologic diagnosis limited by the anterior surface of the thyroid having been disrupted during surgery. There also was an incidental 1.5 mm medullary carcinoma noted. A left completion thyroidectomy then found a 1 mm follicular variant of papillary carcinoma. She was referred for further subspecialty Endocrinology and ENT care for her stage II or higher follicular cancer along with medullary and follicular variant of papillary microcarcinomas. Laboratory evaluation included a TSH of 10.800 (0.360-3.740 mIU/L), thyroglobulin 7.0 (1.5-38.5 ng/mL), thyroglobulin antibody < 1.0 (0.0-0.9 IU/mL), calcitonin < 2.0 (0.0-5.0 pg/mL), CEA 1.3 (< 3.0 ng/mL), calcium 8.8 (8.5-10.1 mg/dL), PTH 36 (14-64 pg/mL), vitamin D 30 (30-100 ng/mL), plasma normetanephrines 38 (0-145 pg/ml), plasma metanephrines 10 (0-62 pg/mL), and RET mutation negative. Her postsurgical hypothyroidism was treated with levothyroxine doses titrated to goal TSH < 0.1. Contrasted neck CT revealed postsurgical changes with no concerning adenopathy. These findings led to a decision against reoperation to include neck dissection but delayed radioactive iodine treatment. Approximately 2.5 months after her iodinated contrast exposure, she was treated with 100 mCi of radioactive iodine 131 via Thyrogen stimulation. Posttreatment whole body scan showed uptake at the thyroid bed but was negative for metastatic disease. Subsequent calcitonin was < 2.0 and CEA 0.7 with ultrasound only showing a 0.4 mm hypoechoic nodule versus node in the right thyroid fossa. One year after her completion thyroidectomy and six months after ablation, TSH was 0.019, thyroglobulin 0.1, thyroglobulin antibody < 1.0, calcitonin < 2 (≤ 5 pg/mL), CEA 0.8, and ultrasound was free of any concerning lesions. She remained on suppressive levothyroxine and further surveillance performed via Thyrogen stimulation with thyroglobulin < 0.1, thyroglobulin antibody < 1.0, and radioactive iodine whole body scan negative for evidence of disease. Clinical Lesson: Coincident follicular thyroid cancer with medullary and follicular variant of papillary thyroid cancer is rare but each malignancy can be managed concurrently yet independently of the other as per current practice standards.

MON-506 Escalating Vitamin D Requirements as the Harbinger of Liver Failure: A Case of Recalcitrant Vitamin D Deficiency Resolved by Liver Transplant

Background: Chronic liver disease (CLD) can cause vitamin D deficiency by several mechanisms including intestinal malabsorption related to cholestasis, decreased vitamin D binding protein, impaired 25-hydroxylation, and increased catabolism of 25-OH vitamin D (25-OH D) (1). Clinical Case: A 56-year-old woman was evaluated for severe vitamin D deficiency. She had a history of uterine sarcoma at age 14 treated with resection and radiation, complicated by radiation damage requiring multiple bowel resections and permanent ileostomy. She also had a history of hepatitis C treated with interferon-ribavirin at age 52, with clearance of virus. Annual CT scans for oncologic surveillance showed evidence of portal hypertension and cirrhosis as of age 50, but she was not clinically symptomatic. Initial tests showed 25-OH D of 8 ng/dL (ref 30-80 ng/dL, measured by HPLC). Treatment with ergocalciferol (D2) 50,000 IU daily for 14 days raised the level to 25 ng/dL, but it rapidly fell again to 14 ng/dL. Vitamin D replacement was then attempted with a combination of D2 and D3 supplements (the latter up to 3000 IU daily), but D3 levels were undetectable on this, so the D3 was stopped. Maintenance D2 dosing was then progressively increased to 500,000 IU per week, which achieved a level of 42 ng/dL. Despite continuing this same dose, the level gradually fell over the following 6 months back to 20 ng/dL. D2 was then escalated up to 150,000 IU daily, with 25-OH D levels ranging 17-27 ng/dL on this dose over the next 18 months. The high vitamin D requirements were attributed to intestinal malabsorption related to her bowel resections although the escalating nature of her requirements remained unexplained. PTH checked when 25-OH D had been ≤20 ng/dL for a full year showed no evidence of secondary hyperparathyroidism; in fact, PTH was low normal (range 16-20 pg/mL, ref 14-72 pg/mL). Bone specific alkaline phosphatase (BSAP) was also normal (16.9 μg/L, ref 7.0-22.4 μg/L). At age 61, she developed acute liver failure requiring transplant. 25-OH D just prior to transplant was 21 ng/dL on D2 150,000 IU daily. D2 was stopped post-transplant, and 25-OH D one month later was 40 ng/dL. Since her transplant, she has maintained 25-OH D levels of 34-46 ng/dL on D2 50,000 IU every 2 weeks, or 2% of her pre-transplant dose. In retrospect, her high vitamin D requirements were likely due to impaired 25-hydroxylation and/or low vitamin D binding protein (the latter would align with lack of elevation in PTH or BSAP, as free levels would have been normal) related to her CLD, as they resolved entirely post-transplant. Clinical Lesson(s): 1. CLD can cause vitamin D deficiency via several different mechanisms and may resolve with liver transplant. 2. CLD should be considered as a cause of recalcitrant vitamin D deficiency in the correct clinical context. Reference: (1) Stokes, C.S. et al. Vitamin D in Chronic Liver Disease. Liver International. 2013 March; 33(3): 338-52.

MON-LB071 Panhypopituitarism Causing a Life Threatening Prolonged QT Interval Which Can Be Reversible with Treatment of Underlying Endocrine Disorders

Introduction: Panhypopituitarism can lead to major metabolic consequences as a result of multiple hormonal deficiencies. However, its association with life-threatening arrhythmias is not well known. Only a few cases have been reported in the literature. Case Report: A 38 year old woman with no past medical history presented with amenorrhea. She was found to have a high prolactin level and subsequent MRI showed a 2.7 cm pituitary adenoma. She underwent transsphenoidal resection and developed panhypopituitarism after surgery. She was placed on hydrocortisone, levothyroxine and desmopressin but was not been compliant with the medications. A few months later, she had a sudden onset syncopal episode without any prodromal symptom. On presentation, she had a heart rate of 43 bpm and prolonged QT/QTc of 668/564ms. Laboratory tests were significant for a troponin of 0.8ng/ml, n <0.03ng/ml, severe hypothyroidism (FT4 0.1ng/dl, n 0.8-2.2ng/dl; FT3 1.03pg/ml, n 2.77-5.27pg/ml) and adrenal insufficiency (AM cortisol <0.2mcg/dL, n 4.5-22.7mcg/dL). There were no other clinical findings to explain this. Her syncopal episode strongly suggested a VT/VF arrest. Echocardiogram showed no structural heart disease. She was treated appropriately for her hypothyroidism and adrenal insufficiency; and she wore a wearable defibrillator while the endocrine disorders were corrected. After treatment, her bradycardia resolved and her QT interval normalized. Genetic screening for underlying Long QT Syndromes was negative. Clinical Lesson: Panhypopituitarism, including hypothyroidism and adrenal insufficiency, can cause life threatening arrhythmias such as ventricular tachycardia and fibrillation. This can lead to extensive noninvasive and invasive cardiac testing and intervention. It is critical that clinicians be aware that these arrhythmias can be reversed by correcting the underlying endocrine disorders. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. s presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.

SAT-603 Graves' Disease and an Anterior Mediastinal Mass

Introduction The association between Graves’ disease (GD) and an anterior mediastinal mass (AMM) due to thymic hyperplasia (TH) has been reported. The exact incidence of TH in GD is unknown as chest imaging is not routinely performed. TH in GD typically has a benign course and majority of cases resolved spontaneously with the treatment of GD. However, lack of familiarity of such association may lead to unnecessary surgical intervention. Clinical case A 33-year-old African American lady with Sjogren’s syndrome was presented with progressive shortness of breath and chest discomfort. Exam showed sinus tachycardia, with bilateral exophthalmos and a diffusely enlarged goiter. CTA chest with no pulmonary embolism, however, there was a 11x1.9 cm homogenous mass at anterior mediastinum. She has Graves’ disease, diagnosed 5-year ago with history of non-adherence to methimazole. TFT showed TSH of <0.1 uIU/ml (ref 0.34-5.6), FT4 of 5.38 ng/dl (ref 0.6-1.6), FT3 of >20 pg/ml (ref 2.3-4.2). TSI was elevated to 365% (ref <140). She had thoracoscopic partial resection of anterior mediastinal mass at outside hospital and reported as thymus hyperplasia. Discussion Differential diagnosis of AMM include retrosternal goiter, thymoma, thymic carcinoma, lymphoma and germ cell tumor. TH is the most common etiology of AMM in GD. The risk of thymic malignancy in GD appeared to be low at 3.7% in one study. In a study by Murakami et al, thyrotropin receptors were present in thymic tissue and GD patients had larger thymic size and higher thymic density than age-matched control subjects. TH in GD can be from lymphoid hyperplasia (TLH) due to increased number of lymphoid follicles with germinal centers or true thymic hyperplasia (TTH) from actual enlargement of the thymus. Thymic enlargement is more common in TTH. The mechanism of TH in GD is appeared to be thyroid hormone dependent which affect more on cortex causing TTH and immunologic process which affect more on medullary lymphoid follicles causing TLH. The degree of TH is correlated with the severity of thyrotoxicosis and the level of TSH receptor antibodies (TRAb). Treatment with anti-thyroid causes regression of TH by reducing levels of thyroid hormone and TRAb. In a literature review by Haider et al, 31 out of 47 GD-associated TH patients had an average of 62% reduction in thymic volume with the treatment of GD. The time to regression of TH under medical treatment varies considerably from 2 to 24 months, however, majority of cases showed >50% volume reduction at six months of therapy. Clinical lesson As TH in GD is a benign reversible autoimmune process, AMM in GD can be followed with repeat imaging. Thymic biopsy may be considered only if the size of the mass does not decrease with euthyroid state or patients with concerning radiological features of AMM such as cystic or necrotic changes, invasion to surrounding structure, or calcification.

SUN-609 Diagnosis of Diffuse Sclerosing Variant of Papillary Thyroid Cancer Confounded by Concurrent Postpartum Thyroiditis

Background: Diffuse sclerosing variant (DSV) is a rare and aggressive subtype of papillary thyroid carcinoma (PTC) that affects younger patients and has the sonographic features of a diffusely enlarged thyroid gland with heterogeneous echotexture and scattered microcalcifications, with or without an identifiable nodule, increased vascularity or regional lymphadenopathy (1). Clinical Case: A post-partum 25-year-old female with history of IV drug use was evaluated for thyromegaly and thyrotoxicosis. She was initially found to have generalized thyroid enlargement on exam six weeks after delivery. At that time she was asymptomatic. Thyroid function tests revealed TSH <0.01 uIU/mL (ref 0.47 - 4.68), free T4 3.47 ng/dL (ref 0.78 - 2.19), and free T3 10.2 pg/mL (ref 2.3 - 4.2). TPO antibodies were negative. Six weeks later, she developed anterior neck pain. Exam revealed a persistently enlarged thyroid gland now with tenderness to palpation. Repeat TSH was <0.01 uIU/mL. Neck ultrasound showed an enlarged thyroid gland with diffusely abnormal echotexture with suggestion of extensive microcalcifications. Color Doppler revealed diffuse hyperemia. No discrete nodule was identified. Five enlarged adjacent anterior cervical lymph nodes were identified that contained nodular foci similar to the appearance of the thyroid gland, including microcalcifications. The interpreting radiologist considered the imaging features to be compatible with DSVPTC, and recommended surgical consultation. Endocrinology was asked to evaluate via electronic consultation. Given her hyperthyroidism, anterior neck tenderness, and time course following delivery, her presentation was attributed to post-partum painful thyroiditis with reactive lymph nodes. Infectious thyroiditis was also considered. FNA was not immediately recommended due to lack of a discrete nodule on ultrasound, concern that inflammatory changes associated with active thyroiditis could lead to inaccurate biopsy results, and the fact that thyroid cancer does not typically arise from hyperfunctioning tissue. However after reiteration of concern for PTC by the radiologist, she was referred for FNA. FNA of the right thyroid lobe and one enlarged right level 3 lymph node were positive for PTC. She subsequently underwent total thyroidectomy with bilateral central neck dissection which revealed multifocal, bilateral diffuse DSVPTC without dominant nodule, with lymphatic invasion and focal angioinvasion. 37/94 lymph nodes were involved, with extranodal extension seen. Treatment with RAI is planned. Clinical Lesson(s): DSVPTC has characteristic sonographic features and may not present with a nodule; presence of these features should prompt further investigation even in the setting of an atypical clinical presentation.

SUN-374 Management of Congenital Adrenal Hyperplasia in Pregnancy with Female Fetus

Introduction: Dexamethasone (dex) crosses placenta, suppresses fetal ACTH and reduces level of adrenal androgens in fetus with Congenital Adrenal Hyperplasia (CAH). This reduces virilization of female genitalia and its associated risk of emotional distress and need for reconstructive surgery (1). As organogenesis begins at 6 weeks, pre-natal treatment with dex must be started at 6-7 weeks. However, dex is a category C drug and its use is associated with birth defects, reduced birth weight and decreased cognitive function. Clinical Case:A 30-year-old African American (AA) female at 25 weeks gestation was referred to the Endocrine clinic after being lost to follow up for two years for management of 21-hydroxylase deficient CAH-virilizing type in pregnancy. She recalls being diagnosed with CAH around 2 years of age, was followed by Pediatric Endocrinology and has been maintained on oral steroids. Her birth and family history are unknown as she is adopted. She had clitoromegaly and underwent clitoral reduction surgery at 8yrs of age. She has had extensive hirsutism but denied having menstrual irregularities or problems conceiving besides one miscarriage at 10 weeks gestation, 1 year prior to current pregnancy. She had an uncomplicated pregnancy 3 years ago and delivered a boy whose genetic testing was negative for CAH. She was on prednisone then. She had history of non-compliance and was switched to dex 0.75 mg nightly 2 years ago. She did not follow with up Endocrine for the last 2 years as she was asymptomatic and had her dex refilled by primary care physician and had been taking it regularly. Her current pregnancy had been going well. She now has a female fetus with a different AA partner who does not have personal or family history of CAH. Genetic testing of father to see if he is a carrier could not be done, and patient refused chorionic villous sampling to determine fetus’ risk of CAH. Given unknown risk of female fetus having CAH and potential complications of dex, we recommended switching to hydrocortisone (HC) 10mg BID. Clinical Lesson: Endocrine society recommends against treatment of CAH in pregnant women with dexamethasone except in cases of prenatal treatment of CAH of female fetuses which is performed at few selected centers (2). In the case above, patient conceived on dex and continued dex for first 25 weeks of her pregnancy until seen by Endocrinologist. By that time, acute decision-making period was over. Female fetus whose risk of CAH is unknown was exposed to dexamethasone and has possible risk of developing complications. This case emphasizes importance of correct steroid treatment early in pregnancy, multidisciplinary approach in management of such patients and importance of endocrine follow up for all CAH patients especially those of reproductive age. (1) Clin Endocrinol (Oxf). 2010 Oct;73(4):436-44 (2) J Clin Endocrinol Metab. 2018 Nov 1;103(11):4043-4088

MON-381 A Missed Case of Pheochromocytoma in NF1 Patient Presenting as Pre-Eclampsia

Background Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder manifesting with skin lesions and neurofibromas. An increased risk of pheochromocytoma and paraganglioma (PPGL) is known with an estimated incidence of 0.1-5.7%1. While some data suggested screening for PPGL in NF1 patients2, this has not been emphasized on guidelines or in practice. Herein, we report a case of pheochromocytoma diagnosed in a patient with NF1 shortly after a pre-eclampsia complicated pregnancy. Clinical case A 25 year old woman with NF1 had poorly controlled hypertension, palpitations, and anxiety during her first pregnancy attributed to pre-eclampsia. She presented to the ED shortly post-partum with episodes of palpitations, tachycardia, hypotension, and GI symptoms. A CT scan of the abdomen and pelvis identified a heterogeneous, well-defined, 35 HU, left adrenal mass measuring 4.9 x 4.5 x 4.2 cm. Biochemical data noted elevated plasma metanephrines (2.42 nmol/L, n<0.49 nmol/L) and normetanephrines (15.85 nmol/L, n<0.89 nmol/L). 24 hour urinary metanephrines (1292 ug/g, n<300 ug/g), normetanephrines (4769 ug/g, n<44 ug/g), norepinephrine (731 ug/g, n<45 ug/g), and epinephrine (77 ug/g, n<20 ug/g) were elevated. She was started on an alpha-adrenergic receptor blockade (in addition to her beta and calcium channel blockers) 3 weeks, and metyrosine 3 days before she underwent a left laparoscopic adrenalectomy. A few weeks after surgery, she was able to stop all blood pressure and anxiety medications. She asked about PPGL screening in her daughter as she carries the NF1 mutation. Clinical Lesson PPGL occur in a small but meaningful number of patients with NF1, and can be associated with significant morbidity and mortality if not detected. The current guidelines suggests screening for PPGL need not be considered unless indicated by signs or symptoms. This case emphasize the significance of biochemical screening for PPGL in NF1 patients prior to elective surgical procedures and conception to avoid fatal complications.

SAT-504 Role of Genetic Screening for FHH in a Patient with Hypercalcemia and Hyperparathyroidism

Background The estimated prevalence of primary hyperparathyroidism (PHPT) is one per 1000 whereas familial hypocalciuric hypercalcemia (FHH) is one per 78,000. Distinguishing between PHPT and FHH can be challenging due to the similarity in biochemical picture. PTH can be normal in 48% of patients with PHPT and 80% of patients with FHH. PHPT patients are generally older and has a history of normal serum calcium with a new onset hypercalcemia. Endocrine society guideline suggests using 24h-CCCR (calcium-to-creatinine clearance ratio) to differentiate with 24h-CCCR <1% as an indicator for FHH and >2% as an indicator for PHPT. Case A 28 years-old African American lady with bipolar disorder is noted to have asymptomatic hypercalcemia in the range of 11.1 to 12.2 mg/dl (ref: 8.4-10.3) by routine lab since 2012 with PTH level of 14 to 155 pg/ml (ref: 12-88). She has never been treated with Lithium. Vitamin D was 25-32 ng/ml (ref: 30-100). Phosphorous was 2-2.4 mg/dl (ref: 2.4-4.5). Magnesium was normal. She has no history of fracture nor renal stone. She has no family history of hypercalcemia. She had a decline in creatine clearance from 96 ml/min to 67 ml/min over a year. 24h-CCCR was < 1% and remained low even after calcium supplementation. No parathyroid adenoma was localized on imaging. Plasma metanephrine was normal. Due to 24h-CCCR <1%, a genetic panel for FHH was performed. She has FHH1 with heterozygous mutation at CASR (c.1972C>T). Discussion FHH is an autosomal-dominant disease with a loss of function mutation at CASR (FHH1), GNA11 (FHH2) or AP2S1 (FHH3). FHH1 is the most common and constitutes 65-90% of FHH. It has a high degree of penetrance. Loss-of-function mutation in CASR causes reduced sensitivity of calcium sensing in parathyroid chief cells resulting in PTH secretion, increased reabsorption of calcium in renal tubule and increased serum calcium. Family history of hypercalcemia and 24h-CCCR <1% suggest FHH. However, the urinary calcium excretion in patients with PHPT and FHH can also be overlapped. In the study reported by Bertocchio et al, 2% of FHH had 24h-CCCR values over 2% and 26% PHPT patients had 24h-CCCR <1%. Concomitant vitamin D deficiency and very low dietary calcium intake may lower 24h-CCCR. In addition, a patient may have coexisting FHH and PHPT or FHH and MEN. Genetic screening for FHH may not feasible or cost-effective in every case of hypercalcemia and hyperparathyroidism with 24h-CCCR <1%. Untreated PHPT increases the risk of renal stones, renal failure, osteoporosis and fracture. Surgical treatment of primary hyperparathyroidism is curative. However, differentiating PHPT from FHH is paramount to avoid unnecessary surgery in a patient with FHH. Clinical Lesson The biochemical picture of PHPT and FHH can be overlapped including 24h-CCCR value. Hence, genetic screening for FHH should be considered routinely in a patient with 24h-CCCR < 1% before considering a parathyroid surgery.

SUN-407 A Clinical Lesson in Adipsic Diabetes Insipidus

Background: Adipsic diabetes insipidus (ADI) is a rare condition with approximately 100 reported cases word wide. Inpatient management can be challenging as patients are predisposed to dysnatremia during this time. Societal guidelines offer little guidance in management of this complex disease. Case: A 62-year-old woman with a history of acromegaly with transphenoidal resection more than 20 years ago, complicated by post-operative hypothyroidism, adrenal insufficiency and adipsic diabetes insipidus presented for admission for a planned cycle on of chemotherapy for her recently diagnosed diffuse large B-cell lymphoma. At admission her initial serum sodium was 130 mmol/L (reference 135-145 mmol/L) near her baseline level. During her 8 day stay she experienced significant fluctuations of serum sodium with a peak level of 151 mmol/L and a nadir of 123 mmol/L. Despite these shifts she experienced no adverse neurological symptoms. 3 weeks later she was again admitted for planned chemotherapy. During this admission she received the same medication treatment protocol as her prior stay, however, the management principles for ADI suggested by Cuesta et al. were applied. The result was a more stable serum sodium with a range of 130-145 mmol/L and no change in concentration by more than 5 mmol/L in a single 24 hour period. Patient was clinically stable and asymptomatic throughout her hospital stay Discussion: When compared to diabetes insipidus with intact thirst sensation, patients with ADI have been shown to be at increased risk for both hypernatremia and hyponatremia during inpatient admission. The risk is further increased when the admission is for an illness not related to pituitary dysfunction. This case represents an important clinical lesson in ADI where simple management principles led to a drastic change in the patient’s serum sodium. Fortunately, this patient tolerated the sodium shifts well, and did not require critical care interventions to correct her dysnatremia. Among the most important principles were transition from intranasal to oral DDAVP for a more predictable treatment response and the use of oral fluids instead of IV whenever possible. Applying these principles at the time of admission allowed for a better understanding of the treatment goals by the multidisciplinary healthcare team. Although ADI is rare, applying these simple interventions at the time of admission is likely to benefit all patients with diabetes insipidus.

“I can’t complete my payment form anymore”

Visual problems occur frequently in elderly patients and are often caused by ophthalmological problems. In this clinical lesson we show that visual problems can also be caused by posterior cortical atrophy (PCA). PCA is a clinico-radiological syndrome that is often caused by Alzheimer's disease and other neurodegenerative diseases as Lewy body dementia and corticobasal degeneration. It is characterized by progressive decline in visual information processing. In addition, there is relative retention of memory and language in early stages. Brain imaging shows atrophy of the posterior brain areas.

Ureteric Avulsion following Blind Attempts at Retrieval of Intrauterine Contraceptive Device: A Clinical Lesson to Primary Care Givers

Intra Uterine Contraceptive Device (IUCD) is the most popular method of reversible contraception in India because of their high efficacy for fertility regulation, low-risk, low-cost, and lack of required maintenance. Uterine perforation remains one of the most serious complications, with an incidence 0.87 per 1000 insertions. The IUCD strings are used to monitor and remove the device. Missing IUCD strings are observed in about 5% of the users. Such patients require localisation of the device using Transvaginal Scan (TVS) and X-Ray, and combined hysterolaparoscopic approach for its retrieval. Hereby we report a case of young primipara, who consulted a local practitioner requesting IUCD removal, as she was planning to conceive her second child. On examination, Cu-T threads were not found. A plain X-Ray of the pelvis was reported as: Cu-T limbs seen in the left side of the pelvis, “in the region of uterus”. Blind attempts led to damage to ovary and uterus along with the ureter. By reporting this case, we hope to raise awareness on the management of misplaced IUCD, among primary care givers; and the need for set protocols on the management of such cases.

A Case Report on Type II Myocardial Infarction Secondary to Methamphetamine-Induced Coronary Artery Spasm (CAS)

A 40-year-old male presented to the emergency department in acute psychosis following high dose intravenous crystalline methamphetamine use over two days. A drug history revealed chronic methamphetamine use over 20 years, testosterone therapy and anabolic steroid use. Initial routine ECG conducted pain-free showed inferolateral T-wave inversion with inferior ST depression, and 0.5-1.5 mm of ST elevation in V1-3. Troponin was elevated to 0.34 and creatinine kinase to 5780. Following four hours of observation the patient reported central and upper chest pressure with no radiation or associated symptoms. He was aspirin loaded and commenced on GTN and heparin infusions. With ongoing chest pain, repeat ECGs revealed evolution of ST elevation in leads V1-5 of 0.5-2 mm. Subsequent urgent coronary angiography revealed no significant coronary artery disease and preserved left ventricular systolic function with the interventional cardiologist's impression to be coronary vasospasm noting myopericarditis as a possible differential. Clinical lesson: This case serves as a reminder to clinicians that in young patients with an atypical presentation of acute coronary syndrome (ACS) and no significant cardiovascular risk factors, a thorough drug history should be elicited. Drug-induced myocardial infarction is not a common phenomenon and is often related to coronary artery spasm (CAS) secondary to both illicit drugs and prescription medications [[1]Menyar A.A. Drug-induced myocardial infarction secondary to coronary artery spasm in teenagers and young adults.J Postgrad Med. 2006; 52: 51-56PubMed Google Scholar]. Future research into management of CAS should look to target postulated hyperactivity of vascular smooth muscle cells (VSMCs) stimulated by sympathetic activation [[2]Lanza G.A. Careri G. Crea F. Mechanisms of Coronary Artery Spasm.Circulation. 2011; 124: 1774-1782Crossref PubMed Scopus (236) Google Scholar].

Meningkatkan Kualitas Pembelajaran Guru Dengan Mengefektifkan Supervisi Kelas Berbasis Klinis Melalui Pendekatan PIS di SDN Sindanglaya 2

This reasearch aims to improve the quality of teacher learning by effectivitying clinical based classroom supervision at SDN Sindanglaya 2 and trying to investigate the obstacles encountered in the implementation of the clinical-based classroom supervision in order to improve the quality of teacher learning. This reasearch uses a study design school action with 2 cycles. Each cycle consists of phases of planning, action, observation and reflection. The subjects of this study are 8 teachers at SDN Sindanglaya 2. The research instrument used is the instrument of clinical supervision, evaluation sheets and lesson plan implementation assessment of learning sheets. The result of this reasearch concluded that (1) the clinical based classroom supervision can improve the learning quality of teachers at SDN Sindanglaya 2. Based on the assestment results of lesson plan is an average of 3.4 in the first cycle and 4.4 in the second cycle, and the results of the implementation of learning management assestment an average of 3.7 in the first cycle and 4.3 in the second cycle (2) the problem faced in the implementation of the clinical-based classroom supervision is not all teachers are ready for clinical supervised.

Sudden Onset Dyspnea; Are We in Danger of Being Ageist with Our Diagnostic Sieve?

Pneumothorax is a common presentation to both emergency and respiratory departments alike. Typically primary spontaneous pneumothorax (PSP) is taught as a disease of young, male patients with a mean age at presentation of approximately 30years. We present a case of an 87 year old patient presenting with her first pneumothorax. Detailed history, lung function and radiology confirmed this was not secondary to underlying lung disease but rather true PSP. The existence of PSP in the elderly is acknowledged, albeit rarely, to occur within previous epidemiological studies though we believe that our patient is the oldest person to feature in a published case report confirming this. Furthermore, our patient provides an important clinical lesson for respiratory diagnosticians as our admitting team, in the face of classical symptoms and signs, did not even consider pneumothorax as a possible diagnosis. Indeed, our patient provides a stark warning of inherent ageism blinding our diagnostic approach.

Using Context-Aware Ubiquitous Learning to Support Students’ Understanding of Geometry

In this study, context-aware ubiquitous learning was used to support 4th grade students as they learn angle concepts. Context-aware ubiquitous learning was provided to students primarily through the use of iPads to access real-world connections and a Dynamic Geometry Environment. Gravemeijer and van Eerde’s (2009), design-based research (DBR) methodology was used in this study. As a systematic yet flexible methodology, DBR utilizes an iterative cyclical process of design, implementation, analysis, and revision. Using this particular DBR methodology, a local instruction theory was developed that includes a set of exemplar curriculum activities and design guidelines for the development of context-aware ubiquitous learning activities. Data collection included semi-structured clinical interviews, observations, student artefacts, video recordings and lesson reflections. This study of technology is grounded in a subject content area (mathematics) so the researchers could clearly state the advantages of using this approach in an educational context. A review of the findings indicates that context-aware ubiquitous learning proved useful in avoiding many common errors and misconceptions that students have in learning these concepts, and students demonstrated growth in their understanding of angle and angle measure beyond what is typically expected. From this study, the researchers present four design guidelines and a full set of context-aware ubiquitous activities.