bluuebunny/crossref_metadata_2025_split huggingface dataset:
MON-352 When Osteoporosis Does Not Make Sense: Tumor-Induced Osteomalacia
Authors: Techathaveewat Pawarid , Elshimy Ghada , Tran Kelvin , Vinales Karyne L , Correa Ricardo R 
Published: May 2020

Abstract
Background: Tumor-induced Osteomalacia (TIO) is a rare paraneoplastic disorder that relates to excess FGF-23 secretion from mesenchymal tumors. Typical presentations include weakness, severe bone pain, but more importantly; multiple false or true fractures. Severe Hypophosphatemia with hyperphosphaturia is one of the pathognomonic findings due to FGF-23 action on renal tubules as phosphaturic agent. Multiple imaging modalities usually required as tumor can be in any size and anywhere in the body.
Case: 58 yo male with past medical history of multiple fractures: bilateral rib cage, and metatarsal, dextroscoliosis who present to endocrine clinic due to low bone mineral density (BMD). On initial visit, screening bloodwork done was unremarkable except for mild elevation of Alkaline Phosphatase and extremely low phosphorus (1.2). 24 Urine phosphorus ordered which was elevated but it was thought to be nutrition related thus phosphorus replacement was prescribed (4 times per day). On follow up, repeat labs noted again with severe hypophosphatemia with elevated FePhos. DEXA was also performed which noted with T score -4.0 of lumbar spine. During that appointment, he informed also that currently in the process of evaluating right lung mass with biopsy resulted with benign mesenchymal tumor which he was happy to hear. TIO was then suspicious to be the cause of decrease BMD along with history of multiple fractures and height loss. Subsequently, FGF-23 staining was then made to the biopsy sample which was positive thus confirming the diagnosis. Patient then underwent surgical resection of the tumor which post-surgery, patient experienced overall symptoms improvement, resolution of phosphatemia, as well as significant improvement of BMD without additional therapy besides calcium and vitamin D.
Discussion: Osteomalacia is a pathological bone disease involving poor mineralization of existing bone during remodeling phrase. It is commonly involved with chronic hypophosphatemia and/or hypocalcemia. Persistent decrease in calcium-phosphate product leads to reduction in bone mineralization activity and bone stiffness with Bowing deformities of the long bone being one of the common findings as well as false fracture.In TIO, FGF-23 is excessively secreted by mesenchymal tumor that is usually difficult to locate due to its small size. When FGF-Receptor is activated, NaPi-2a transcription is reduced in proximal tubule cells which leads to Phosphate excretion and wasting.TIO is a curable disease once tumor is located and surgically removed thus it is important for providers to be aware of it and pursue diagnostic work up when high suspicious. One of the most common reason for misdiagnosis is due to standard metabolic panel on its own does not include phosphorus level which is crucial. TIO has to be distinguish from osteoporosis as Bisphosphonates is not indicated as treatment which is first line for the latter.
MON-469 Rapidly Expanding Thyroid Goiter as the First Manifestation of Systemic Amyloidosis
Authors: Khil Jaclyn , Baer David , Lo Joan Chia-Mei , Arzumanyan Hasmik 
Published: May 2020

Abstract
INTRODUCTION
Amyloidosis is a condition manifesting with extracellular tissue deposition of fibrils of low molecular weight proteins. In Ig light chain amyloidosis (AL), the deposition of Ig light chains can cause organ dysfunction, and patients can have involvement of a range of organs including kidney (70%), liver (70%), heart (60%), peripheral nerves (20%), the tongue, skin, and the coagulation system (1). We describe a unique case of AL amyloidosis, which first presented with thyroid involvement.
CLINICAL CASE
A 78 year old female patient with hx of small lymphocytic lymphoma and normal thyroid function presented with an expanding symptomatic goiter and compressive symptoms (positive Pemberton sign) for which a total thyroidectomy was performed. Pathology showed Congo red-birefringent amyloid deposition. SPEP showed a small amount of M protein, with circulating monoclonal free lambda light chain on immunofixation. The free kappa lambda light chain ratio was low (0.04) with an elevated serum free lambda light chain (283.93). Mass spectrometry confirmed AL light chain amyloidosis - lambda type. A work up was initiated to assess other organ involvement. Echocardiogram showed mild thickening of left ventricle with a preserved EF and EKG showed low voltage in limb leads. Creatinine (1.05) was minimally elevated from baseline with minimal proteinuria (396 mg/24 hours). Alkaline phosphatase, APTT, and PT were normal. The patient described tongue enlargement and scalloping of the tongue from tooth impingement was seen. Biopsies of tongue and bone marrow also showed amyloidosis thereby securing the diagnosis of systemic amyloidosis, and chemotherapy was initiated.
CONCLUSION
This case illustrates the importance of considering amyloid goiter in the differential for a rapidly enlarging thyroid, even when there is no history of amyloidosis. Although extremely uncommon, a few case reports have described amyloid goiter. In our case, thyroid AL was the initial presentation of systemic amyloidosis. Because disease can be localized or systemic, work up should include an assessment for the presence of a monoclonal gammopathy and an assessment for amyloid mediated organ dysfunction. Tissue should be sent for amyloid typing – there are 35 different proteins known to form amyloid fibrils and prognosis and treatment depends on amyloid type (2). Typing using Liquid Chromatography-Tandem Mass Spectrometry, is the most sensitive and specific methodology, though, in experienced hands, typing by immune histochemistry is an option.
REFERENCES
1. Rajkumar, S.V., Dispenzieri, A. Clinical presentation, laboratory manifestations, and diagnosis of immunoglobulin light chain (AL) amyloidosis. Uptodate. 2019.
2. Winter, M., Tholey, A., Kristen, A., Röcken, C. MALDI Mass Spectrometry Imaging: A Novel Tool for the Identification and Classification of Amyloidosis. Proteomics 2017, 17, 1700236.
SUN-919 Ectopic ACTH Syndrome: An Aggressive Presentation Due to Metastatic Liver Cancer of Unknown Primary
Authors: Serrano Ivan Alexander , Ahmad Sara , Dadu Ramona , Graham Paul , Weitzman Steven 
Published: May 2020

Abstract
Background: Ectopic Cushing’s Syndrome is a rare but often aggressive condition caused by ACTH-hypersecretion from non-pituitary tumors. In patients with metastatic cancer, as well as those with occult tumors, the diagnosis and management can be extremely challenging. Clinical Case: A 25-year old woman recently diagnosed with poorly differentiated metastatic liver carcinoma of unknown primary was admitted for lower extremity edema and worsening fatigue for the preceding month. Since being diagnosed with liver cancer, she developed uncontrolled hypertension, persistent severe hypokalemia and facial “puffiness”. Physical exam was remarkable for moon facies and truncal obesity but no evidence of striae. An overnight 1-mg dexamethasone suppression test resulted in an elevated morning cortisol level of 93.4 mcg/dL and elevated ACTH of 299 pg/mL. A 24-hour urine cortisol was significantly elevated at 4,448 mcg/24 hours. These findings were consistent with hypercortisolism due to hypersecretion of ACTH. An MRI of the sella revealed no pituitary abnormality. A high-dose dexamethasone suppresion test (single 8 mg dose) was performed and her morning cortisol level remained elevated at 98.6 mcg/dL, consistent with ectopic ACTH secretion. She was treated for the underlying malignancy with carboplatin and paclitaxel. After a thorough discussion of therapeutic options, she was prescribed Ketoconazole with the plan to medically control the hypercortisolism potentially followed by bilateral adrenalectomy. Ketoconazole was up-titrated and Spironolactone was added resulting in significant improvement of hypokalemia and hypertension. Unfortunately, one week after discharge she was re-admitted due to worsening performance status, watery diarrhea and abdominal pain. A serum cortisol level was elevated at 124 mcg/dL and Metyrapone was added to her regimen. Unfortunately, her performance status continued to decline due to progression of cancer and uncontrolled hypercortisolism. As a result, she was deemed a poor surgical candidate for bilateral adrenalectomy. The patient’s condition rapidly deteriorated and she developed malignant ascites as well as altered mental status. In accordance with her wishes, a DNR order was placed and she passed away shortly thereafter. Conclusion: Ectopic ACTH-syndrome is the etiology of 10–20% of cases of Cushing’s syndrome. Clinical presentation is often sudden and rapidly progressive. Severe hypertension and hypokalemia are seen more commonly than in Cushing’s disease. Cases secondary to occult tumors or metastatic cancer can be particularly challenging to treat when it is not possible to eliminate the source of ACTH hypersecretion via surgical or medical treatment. In patients such as this, early bilateral adrenalectomy should be considered after starting medical therapy in order to reduce morbidity and mortality due to hypercortisolism.
MON-064 Persistent Progressive Clitoromegaly Is Not Always Hormonal: When One Disease Fits All
Authors: Gupta Meenal , Horne Vincent , Seth Abhishek , Tu Duong , Adeyemi-Fowode Yemi , Karaviti Lefkothea P 
Published: May 2020

Abstract
Introduction: Clitoromegaly presenting in childhood can be congenital or acquired. The most common cause is exposure to excess androgens in fetal or neonatal life. However, non-hormonal causes like neurofibromatosis type 1 (NF-1), epidermoid cysts, tumor syndromes have been reported. An asymmetric or irregular appearing clitoris is usually caused by a non-hormonal process.
Clinical Case: A 6-year-old female with NF-1 and right-sided hemihypertrophy was referred to endocrinology due to progressive clitoromegaly since birth. NF-1 features included café-au-lait spots, bilateral optic nerve gliomas, plexiform neurofibroma, Lisch nodule, first degree relatives with NF-1 (sister and mother). At age 1.5, a hormonal work up was negative for hyperandrogenism. At age 2, patient was seen by genetics, and by urology for removal of a bladder neurofibroma, but did not return to these specialties for follow up. Lumbar spine MRI, obtained for back pain, revealed a large sciatic plexiform neurofibroma. She followed with oncology for cancer surveillance and due to parental concern for progressive clitoromegaly was referred to endocrinology at age 6. At the endocrinology visit, parents denied breast development, vaginal discharge or bleeding, axillary or pubic hair, body odor or acne. Her genital exam revealed a clitoris 3 x 1.5 cm in size, Tanner 1 pubic hair, no palpable gonads, no labial fusion but asymmetric labial sizes (right&gt;left). A hormonal workup was normal including 41 ng/dL 17-hydroxyprogesterone (n ≤137 ng/dL), 20 ng/dL androstenedione (n ≤ 45 ng/dl), 42 ng/dL unconjugated DHEA (n ≤ 487 ng/dL), 11 mcg/dL DHEA Sulfate (n ≤ 34 mcg/dL), 3 ng/dL total testosterone (n ≤ 21 ng/dL) and pre-pubertal LH, FSH and estradiol levels. Patient was referred to a multi-disciplinary DSD (Disorders of Sexual Differentiation) clinic for further evaluation and potential surgical options. A pelvic ultrasound and subsequent pelvic MRI revealed that the large sciatic plexiform neurofibroma, detected on the prior MRI, had now extended into the clitoris and right labia. Uterus and ovaries were pre-pubertal in size. Surgical options were discussed in a multi-disciplinary approach. Since clitoral enlargement was contiguous with posterior bladder mass and vital organ functions were not affected, resection was not recommended. Clitoral reduction for cosmetic reasons had a potential risk of recurrence. Since benefits did not outweigh the risks, family chose to not pursue any surgical intervention.
Conclusions: NF-1 is a rare but potential non-hormonal cause of clitoromegaly. In the absence of clinical evidence of hyperandrogenism, clitoromegaly in a patient with NF-1 does not warrant an extensive hormonal work up. Pelvic imaging should be pursued first, to search for local neurofibromas. Decision for surgical interventions requires a multi-disciplinary approach with detailed discussion of benefits vs. risks.
MON-459 Bilateral Killian-Jamieson Diverticulum Mimicking Thyroid Nodules
Authors: Lin Yu-Yi , Wang Hsin-Kai , Chen Harn-Shen , Kwok Ching-Fai 
Published: May 2020

Abstract
Background
In recent years, incidence and prevalence of thyroid and extrathyroid lesion is increasing in the worldwide due to increase awareness of medical check-up, and widespread use of imaging techniques. A Killian Jamieson diverticulum (KJD), a rare type of hypopharyngeal pulsion diverticulum outpouching from the lateral wall of the proximal cervical esophagus, was incidentally detected and likely to be misinterpreted as a thyroid nodule while performing thyroid sonography. Clearly differentiate between those lesions is essential to avoid unnecessary invasive procedure. Here we report a typical case of bilateral Killian Jamieson diverticulum mimicking thyroid nodules.
Clinical case
A 57-year-old Taiwanese man was referred to our endocrine outpatient department for further evaluation of thyroid nodules. The lesions were discovered while sonographic examination performed in the clinic for routine medical check-up. He denied having dysphagia, epigastric pain, odynophagia, halitosis, chronic cough or acid regurgitation, body weight loss, fever and dyspnea. He had no previous systemic disease and no prior radiation therapy. He lives in Nangang District, Taipei city. His body weight was 70 kg and BMI was 25. An examination of head and neck was unremarkable. Laboratory data revealed normal thyroid function (TSH: 0.67 uIU/ml; range 0.4~4.0, free T4: 0.83 ng/dl; range 0.9~1.8 and aTPO &lt;1.0 IU/ml; range &lt;5). Thyroid ultrasonography demonstrated oval, hypoechoic nodule-like lesions containing bright foci with acoustic shadow in the posterior aspect of the both lobes of thyroid gland. The rest of thyroid glands were normal appearance. An esophagography was performed and showed two contrast-filling anterior outpouching lesions at both sides of the cervical esophagus, around C7 level and both lesions were showing anterior outpouching appearance, consider Killian-Jamieson diverticulum. Taken together, he was diagnosed as KJD and clinical follow-up alone is suggested.
Clinical lessons
KJD is usually incidentally detected and misdiagnosed as a thyroid nodule containing punctuate microcalcification foci as found in papillary thyroid carcinoma. To differentiate these nodules, real time sonographic examination is important. Although rare, non-thyroid lesions originating from the esophagus should be considered in the differential diagnosis of the thyroid nodules to avoid unnecessary invasive fine needle aspiration of thyroid gland.
MON-689 Diabetes Mellitus---Hypoglycemic Response---Empyema
Authors: Chen Yaning 
Published: May 2020

Abstract
Diabetes mellitus---hypoglycemic response---empyema
Case report
A 65-year-old woman was admitted to our department due to high blood glucose for two days on February 29, 2016. Fasting blood glucose was 12.53mmol/L on February 28 without polydipsia, polyuria, polyphagia and weight loss.
In the past medical history, she started to cough in January 2016. On February 2, the routine blood examination showed that white blood cells and neutrophils were higher than normal. Chest X-ray was normal. Moxifloxacin was given and symptoms were relieved slightly.
On examination, the temperature was 36.9℃. Auscultation of the chest was normal. On the evening of admission, body temperature rose to 37.8 C. On March 1st, white cell, neutrophil, erythrocyte sedimentation rate and C-reactive protein were increased. FBG was 10.5mmol/L, and HbA1c was 10.5%. Chest CT was normal. Piperacillin Tazobactam Sodium and Moxifloxacin were given, and insulin was used to lower blood glucose.
On March 2, body temperature was normal. And palpitation, tremor, sweating, fatigue and cold extremities appeared several times. Blood glucose test ruled out hypoglycemia. The above symptoms appeared again at around 4 pm, more serious than before. Gas analysis at 5:12pm showed PH 7.403 and lactic acid 19.27mmol/L. At 6:00pm, blood pressure started to drop. Vasoactive drug was given. In gas analysis at 6:27pm, PH was 7.237, lactic acid 21.05mmol/L. 5% NaHCO3 solution was given to buffer acidosis. Cardiac and respiratory arrested during transferring to ICU. Undergoing cardiopulmonary resuscitation, vasoactive drugs and ventilator-assisted breathing were applied. Hemodialysis was used to counteract lactate acidosis. The bedside chest radiograph showed that the transmittance of left lung was decreased. On March 3, the transmittance of left lung was lower. Doctors prescribed Tylenol and Vancomycin. On March 4, left thoracic puncture and catheterization were performed. The pus was drained out and bacterial cultures were made. Klebsiella pneumoniae was cultured. Sensitive antibiotics therapy was chosen according to pleural cultures. On March 9, left empyema was removed and pericardial fenestration was performed by thoracoscope under general anesthesia. Nutritional support had been given. The patient gradually recovered and was discharged on April 9.
Discussion
Palpitation, tremor, sweating and fatigue were the first manifestations of the condition change in this diabetic patient. The condition rapidly developed into septic shock and empyema. After active treatment, she was cured and discharged from hospital. Besides hypoglycemia, other diseases such as septic shock also may cause the symptoms of sympathetic excitation, which should be considered in order to avoid delaying the time of treatment. Furthermore, diabetic patients complicating with infection should be actively treated with effective antibiotics.
MON-030 Intermediate Hyperglycemia and Type 2 Diabetes in Women with Polycystic Ovary Syndrome: Findings from Large Caucasian Cohort
Authors: Livadas Sarantis , Bothou Christina , Kuliczkowska-Płaksej Justyna , Androulakis Ioannis , Robeva Ralitsa , Vryonidou Andromahi , Macut Jelica Bjekic , Mouslech Zadalla , Milewicz Andrzej Jan , Panidis Dimitrios , Macut Djuro P 
Published: May 2020

Abstract
Background: Insulin secretory defects and insulin resistance exists in women with polycystic ovary syndrome (PCOS) and are prerequisites for the development of type 2 diabetes (T2D). Objective: To determine the prevalence of T2D, impaired glucose tolerance (IGT) and impaired fasting glucose (IFG), as well as the factors associated with these dysglycemic conditions. Participants: 1614 women with PCOS of Caucasian origin (Rotterdam criteria) with a mean age 25.14±5.56 years and BMI 27.34±7.09 kg/m2 comprised the study group, whereas 359 normally ovulating, not hyperandrogenic women of comparable age and BMI, served as controls. Design: Observational study. Setting: Outpatient clinics of tertiary hospitals. Main Outcome and Measures: Clinical, biochemical, hormonal and ovarian ultrasound as well oral glucose tolerance test were performed in all subjects participating in the study. Diabetes and intermediate hypeglycemia was categorised according to WHO criteria and PCOS subgroups was based on the Rotterdam criteria. Results: In the PCOS group 2.2%, 9.5% and 12,4% of subjects had T2D, IGT and IFG, respectively. In control group 1,11%, 7.5% and 8.9% had T2D, IGT and IFG, respectively. When the existence of T2D was stratified according to age and BMI, no difference was found among age and BMI subgroups or PCOS subgroups. Namely in patients aged 17-22 years, T2D was detected in 3 lean and 2 obese subjects. The corresponding distribution for patients aged 22-30 years was 4 lean, one overweight and 2 obese, whereas in those older than 31 years, 2 overweight and 5 obese suffered from T2D. Free Androgen Index (FAI), waist to hip ratio (WHR) and LDL levels were significantly higher in T2D subjects in comparison to PCOS women with normal glucose metabolism. Diagnosis of T2D was significantly associated with Free Androgen Index (r: 0.469, p&lt;0.05), while subjects with either IFG and IGT had positive association with BMI, WHR, FAI and HOMA-IR. In controls, T2D, IGT and IFG were positively associated with BMI and androgen concentrations. Conclusions: The prevalence of T2D and IGT is significantly higher in our large cohort of PCOS women in comparison to controls. The existence of T2D is irrespective of age and BMI, and seems to be inherent for PCOS women. Hence, the evaluation of glycemic status in women with PCOS using OGTT is supported.
MON-300 AIP Gene Germline Mutations in Non-Selected Patients with Apparently Sporadic Pituitary Macrodenomas
Authors: Trofimiuk-Muldner Malgorzata , Domagała Bartosz , Sokolowski Grzegorz , Skalniak Anna , Piatkowski Jakub , Hubalewska-Dydejczyk Alicja 
Published: May 2020

Abstract
Up to 5% of all pituitary tumors are hereditary (e.g. due to menin or AIP genes germline mutations). AIP gene mutations are more common in subjects with acromegaly, less than 30 years old at the onset of disease, and with FIPA family history.
The study was aimed at the assessment of the frequency and characteristics of AIP-mutation related tumors in non-selected patients with pituitary macroadenomas.
Material and methods. The study included subsequent 131 patients (57 males, 74 females; median age 42 years (IQR 25 years) diagnosed with pituitary macroadenomas, and with a negative family history of FIPA or MEN1 syndromes. The following tumors were identified: 11 ACTH-secreting, 49 GH-secreting (including 7 pluri-hormonal ones), 6 gonadotropinomas, 23 prolactinomas, 1 TSH-oma, and 43 non-secreting adenomas. Sanger sequencing was used for the assessment of AIP gene variants. The study was approved by the Ethics Board of JUMC.
Results. An AIP mutation was identified in five of 131 included subjects (3.8%): one diagnosed with Cushing’s disease, two with acromegaly, and two with non-secreting adenomas. In two patients, the identified mutation usually predisposes to ACTH-secreting adenomas, in two patients - mutations of unknown clinical significance were found (usually connected with pituitary adenomas), and the mutation detected in one patient was described as benign. Patients harboring hereditary AIP gene variations did not differ from the rest of the study group in median age at diagnosis (41 vs. 42.5 years, p=0.8), median largest tumor diameter (25 vs. 24 mm, p=0.6), gender distribution (60% of females vs. 56.3%, p=0.8), secreting tumor frequency (60% vs. 67.5%, p=0.7), or acromegaly diagnosis frequency (40% vs.37.3%, p=0.9). 2 of the 5 patients with identified AIP gene mutations agreed for their families to be offered AIP genetic testing: (1) An AIP mutation was found in the asymptomatic mother of one acromegalic female patient. (2) The AIP mutation of unknown clinical significance was detected in the son of a male acromegalic patient with acromegaly, clinically unscreened yet.
Conclusions. In our series of apparently sporadic pituitary macroadenomas, AIP gene mutation carriers did not differ substantially from patients with negative genetic testing. A risk factor-centered approach to AIP genetic screening may result in missing germline mutations, therefore, there is a need to establish if such a situation negatively impacts a patient’s and his/her family outcomes.