bluuebunny/crossref_metadata_2025_split huggingface dataset:
MON-252 Pituitary Tumor Apoplexy Presenting with Acute Psychosis
Authors: Pineyro Maria Mercedes , Agüero Patrica , Irazusta Florencia , Brun Claudia , Duarte Paula , Ems Vanessa 
Published: May 2020

Abstract
Background: Pituitary tumors (PT) can present with neuropsychiatric symptoms. It has been associated with hormonal changes, as well as extension of the tumor to the diencephalon. Psychopathology has been reported in up to 83% in Cushing Disease (CD) and 35% in acromegaly (ACR). Psychiatric disorders (depression, anxiety and psychosis) have been reported up to 77% in CD and 63% in ACR. We present a rare case of a patient presenting with acute psychosis and a PT apoplexy. Case: A 27 year-old Caucasian female with a PMH of primary hypothyroidism presented with a 15-day history of delusions. She had delusional ideas on the subject of harm and prejudice, persecutory and mystical-religious. The mechanism was mainly intuitive and interpretive with false acknowledgments. She also had sleep disturbance, death ideation and subacute alteration of consciousness. There was no history of substance abuse or psychiatric disorders. She did not report headaches, visual disturbances, symptoms of hormone hypersecretion or hypopituitarism. She had regular menses on BCP. She had no family history of mental illnesses. Physical exam revealed reluctance, latency in responses and bradypsychia. She did not have acromegalic or cushingoid features. She was diagnosed with acute psychosis with atypical features so a brain CT was performed, which showed a sellar mass. Pituitary MRI revealed a sellar mass measuring 15x12x13 mm, with suprasellar extension, optic chiasm compression, hyperintense on T1- and hypointense on T2-weighted imaging compatible with subacute hemorrhage. She was treated with neuroleptics and benzodiazepines. Lab work revealed high prolactin (PRL) (114ng/dl), and normal 8 AM cortisol, FT4, LH, FSH and IGF-1 levels. Repeated PRL was 31,6 ng/dl after changing psychiatric treatment to aripiprazole. Her psychiatric symptoms improved. We postulate a diagnosis of PT apoplexy that presented with acute psychosis. In relation to the nature of the PT we postulate a non functioning pituitary adenoma (NFA) or a partial resolution of a prolactinoma after apoplexy. A follow up MRI is pending. Discussion: Infrequently, psychiatric symptoms may be the primary manifestation of brain tumors. Patients with PT have been reported to have altered quality of life, reduced coping strategies, increased prevalence of psychopathological alterations and maladaptive personality disorders. In addition, they can present with psychotic symptoms, mostly reported with hormone excess (GH and cortisol). Psychiatric symptoms such as anxiety and neurosis have been reported in NFA and prolactinomas. However, it is not clear a higher prevalence of psychiatric illnesses in these tumors. To our knowledge this is the first case of a pituitary tumor apoplexy presenting with acute psychosis. Conclusion: Psychiatric symptoms can be the first manifestation of PT, so atypical presentations should warrant further workup with brain imaging.
SAT-071 Autoimmune Polyglandular Syndrome Type 1 with Common Variable Immunodeficiency
Authors: Shikdar Yasamen Abdulmannan , Almazrooa Abdullah , Samargandy Shaza 
Published: May 2020

Abstract
BACKGROUND:
Autoimmune polyglandular syndrome (APS) is a rare disorder. It’s co-existence with common variable immunodeficiency (CVID) was reported in 5 cases before but, none of them was APS type 1up to our knowledge. The overlap between the 2 conditions indicates a possible association between Autoimmunity and immunodeficiency.
CLINICAL CASE:
A 21-year-old lady was diagnosed to have CVID since infancy, as she was presenting to the hospital with recurrent infections and sepsis. At the age of 7 months, she was diagnosed with type 1 diabetes and was started on insulin. Furthermore, at 2 years of age she was found to have primary hypothyroidism and in her teenage she was diagnosed with primary adrenal insufficiency. Her history became more complicated when she also started to develop recurrent oral and esophageal candidiasis that required systemic anti-fungal therapy. Later in her life, she was incidentally found to have hypoparathyroidism when her labs showed hypocalcemia with inappropriately normal parathyroid hormone. She had chronic diarrhea which was thought to be due to celiac disease based on intestinal biopsy showing villous atrophy. With her IgA deficiency, her Tissue transglutaminase IgA antibodies were not reliable. Splenic atrophy was also detected on abdominal imaging. She never reached puberty and elected with her parents to not start combined hormonal therapy.
With the constellation of these features, we concluded that she has type 1 APS along with CVID.
CONCLUSION:
Autoimmunity and immunodeficiency might be interconnected. Early diagnosis will affect the quality of life and early targeted treatment will prevent morbidity and early mortality.
KEY WORDS: Autoimmune Polyglandular Syndrome, Common Variable Immunodeficiency.
SAT-636 The Fast-Evolving Connected Diabetes Care Landscape: Transforming Diabetes Care with Telehealth and Technology
Authors: Levine Brian , Close Kelly , Gabbay Robert Abraham 
Published: May 2020

Abstract
Background and Aims
Recent years have brought about a new form of “connected diabetes care,” defined as digital diabetes management systems based around (1) smartphone apps, (2) devices with built-in connectivity, and (3) remote human and automated coaching and support. Given their potential to help improve health outcomes, the rapid pace of innovation, and the dearth of information about them to guide patients, providers, and payers, we provide an update on the landscape of and trends in connected diabetes care offerings.
Methods
Prominent connected diabetes care providers that have published results are categorized and characterized. Similarities and differences are identified and the state of available evidence is evaluated.
Results
Connected diabetes care offerings were analyzed for items including: health conditions managed, care team composition, connected medical devices, and evidence. We expect these players will further expand offerings across chronic conditions, strive to integrate more deeply with the traditional healthcare system, deploy greater automation to promote scalability, and find clever ways to promote and support the use of continuous glucose monitoring in type 2 diabetes. Future evidence generation for this field should have more standardized methodology.
Conclusions
The field of connected diabetes care has tremendous potential to improve outcomes, but it is in its infancy in terms of awareness, uptake, and effectiveness. Further, questions regarding offerings’ abilities to support most people with diabetes sustainably remain. However, existing evidence is sufficient to support further exploration and refinement of the model as the next step in team-based diabetes care.
MON-282 Treatment of Hyperprolactinemia with Ropinirole: An Open-Label Dose Escalation Study
Authors: Tsang Amanda , Dimino Cara , Khandji Alexander G , Panigrahi Sunil Kumar , Page-Wilson Gabrielle 
Published: May 2020

Abstract
Purpose
Treatment of hyperprolactinemia and prolactinomas with ergoline dopamine agonists (DAs) can be complicated by intolerance and resistance. Ropinirole (ROP) is a low cost selective D2/D3 receptor non-ergot DA, approved for treatment of Parkinson’s disease and Restless Leg Syndrome, that has been shown to acutely lower prolactin levels (PRL). This study investigated the efficacy and tolerability of long-term ROP therapy in patients with hyperprolactinemia.
Methods & Results
Ten healthy women (21-45 yrs) with hyperprolactinemia were treated with ROP (0.25-6.0mg/d) for 6 months in an open-label dose escalation study. Clinical and biochemical status was assessed monthly and ROP doses were up-titrated to achieve normal PRL levels, restore menses, and eliminate galactorrhea. Two subjects had macroprolactinomas, 7 had microprolactinomas, and 1 had idiopathic hyperprolactinemia. 8/10 had previously been treated with cabergoline and/or bromocriptine. 5/10 were intolerant and 1/10 was resistant to ergot DAs. Pituitary MRIs were performed at baseline and 6 months.ROP was initiated at 0.25mg QHS in 9/10 subjects. One subject with severe DA intolerance was initiated on 0.125mg QHS. Subjects reaching a total daily dose (TDD) &gt; 2.0mg/d were transitioned to ROP extended release. At study completion, TDDs ranged from 1-6mg/d, with a median TDD of 2mg/d. Baseline PRL levels were 136 ± 49ng/ml (1.9-25ng/ml). Stable PRL normalization was achieved in 50% of subjects. Of the subjects achieving normal PRL, 4 had microadenomas and 1 had idiopathic hyperprolactinemia, and the median effective TDD was 1mg/d (1-4mg/d, range). Among those not achieving PRL normalization, PRL decreased 46 ± 5.4% (Mean ± SEM) from baseline, at a median TDD of 4.0mg/d (2-6mg/d, range). In the subject with documented resistance to ergot DAs, PRL decreased from 529 to 320ng/ml, after 3 months of ROP on the maximum dose studied (6mg/d), but rose to 690ng/ml at 6 months. During ROP treatment, menses normalized in 57%, and galactorrhea resolved in 67% of affected subjects. At study completion, tumor size was unchanged in 7/8 prolactinomas. A 20% decrease in tumor size was observed in one macroadenoma, accompanied by a 30% reduction in PRL levels. There were no changes in BP, HR, weight, renal or kidney function. Mild adverse effects (AEs) were recorded in 80% of subjects. Fatigue (60%), nausea (40%), and headache (20%) were most common. Reported AEs declined after month 1 and ROP was not discontinued due to intolerance.
Conclusion
These data provide support for the efficacy of ROP in the treatment of hyperprolactinemia in patients with microprolactinomas and idiopathic hyperprolactinemia. While further study is needed, ROP treatment for hyperprolactinemia could be considered in patients with ergot DA intolerance or significant cardiac valve disease.
SUN-143 Prostatic Acid Phosphatase Is Not Regulated by Androgens During Prostate Development and Tumorigenesis
Authors: Izadmehr Sudeh , Yao Shen , Kirschenbaum Alexander , Levine Alice C 
Published: May 2020

Abstract
INTRODUCTION: Prostatic acid phosphatase (PAP) is a soluble factor secreted by prostate luminal epithelial cells. PAP expression correlates with prostate cancer (PCa) bone metastases and poor survival. The androgenic regulation of PAP in prostate development and tumorigenesis is not fully understood. We investigated the relationship between PAP and androgens in human prostate specimens and in vivo. HYPOTHESIS AND OBJECTIVES: We hypothesized that PAP expression was independent of androgens. Our objectives were to determine the immunohistochemical expression of PAP in human fetal prostate tissue, human PCa bone metastases, and xenograft and surgical castration mouse models. METHODS: Immunohistochemical staining for PAP and three androgen-regulated proteins, the Androgen Receptor (AR), Prostate-Specific Antigen (PSA), and ETS-related gene (ERG) protein, was carried out on human fetal prostate (9.5, 11.5, 13, 16.5, 18 and 20 weeks of gestational age), archival human PCa bone metastases, and PCa mouse models. For xenograft studies, PAP-expressing PCa cell lines, LNCaP, C42B, and VCaP cells, were inoculated subcutaneously into SCID mice. A castration study with surgical or sham castration was performed after VCaP tumors were palpable. Mouse tumor growth and weight were measured biweekly, and tumor tissue isolated after mouse sacrifice. RESULTS: PAP expression was observed in the fetal prostate as early as 11.5 weeks of gestational age. Strong PAP expression was noted in all human PCa bone metastases examined, both treatment-naive and castrate-resistant (n=10). However, AR and ERG expression was absent in two of four castrate-resistant specimens. PSA was weakly expressed in human castration-resistant bone metastatic prostate specimens. In vivo, PAP expression was observed in all tumor models; however, the expression of PAP differed among androgen-sensitive models; LNCaP (low PAP), C42B (moderate PAP) and VCaP (high PAP). Castrated VCaP tumors underwent tumor stasis and were significantly smaller compared to intact mice. Strong expression of PAP was observed after castration. In contrast, AR, PSA, and ERG expression were reduced in castrated VCaP tumors compared to tumors from intact mice. Double staining of tumors for PAP and AR demonstrated a population of cells that were positive for PAP but negative for AR expression located in hypoxic areas near necrosis. CONCLUSIONS: Our findings demonstrated that PAP is expressed early in normal human fetal prostate development prior to the secretion of significant androgens or expression of AR. In mouse xenografts and human PCa bone metastases, androgens did not significantly regulate PAP expression. These data demonstrate that PAP is a marker of early progenitor cells in the normal prostate and is persistently expressed after castration. PAP may be a suitable target for the treatment of castration-resistant metastatic disease.
MON-361 Late Diagnosis in Adult Form of Hypophosphatasia
Authors: da Silva Marina Sousa , Borges Joao Lindolfo 
Published: May 2020

Abstract
INTRODUCTION/BACKGROUND:
Hypophosphatasia is a rare inborn error of metabolism that presents with important foot and thigh pain due to stress fractures. The diagnose of the adult form is routinely neglected, even though it presents symptomatic and with persistent low serum alkaline phosphatase (ALP).
CLINICAL CASE (DIAGNOSTIC EVALUATION, TRATMANET AND FUP):
A 43-year-old amateur athlete woman presented with pain in the right femur without any local trauma. Physical examination evidenced prolonged right tight pain and no other findings. Bone mineral density evaluated by dual-energy x-ray absorptiometry was unremarkable. Biochemical investigations showed normal inorganic phosphate, calcium, zinc, and magnesium, but low ALP. The patient had six previous ALP measurements and all of them were below the lower limit of normality (46 a 116 U/L). These measurements were done in regular ob-gyn checkups with no further investigation or follow-up. In light of the hypophosphatasemia and pathologic fracture, the serum pyridoxal 5’-phosphate concentration was measured and found to be elevated 35,8 mcg/L (normal 5,0 a 30,0 mcg/L).
CLINICAL LESSONS/CONCLUSION:
Hypophosphatasia occurs due to a deactivating mutation (or mutations) of the gene encoding Tissue-Nonspecific Alkaline Phosphatase (TNSALP), leading to a global deficiency of TNSALP activity and inadequate skeletal mineralization and fractures. The adult form presents during middle age with stress fractures. The first complaints maybe foot pain, which is due to stress fractures of the metatarsals, and thigh pain, due to pseudo fractures of the femur. Our patient illustrates the importance of low serum ALP activity in the assessment of these patients. The correct diagnosis should help to avoid the use of traditional therapies for osteoporosis or osteomalacia, which would be ineffective or potentially harmful.
SAT-437 Influence of Smoking on Thyroid Function in Japanese Subjects: Longitudinal Study for One Year of On-Off Smoking
Authors: Nakajima Yasuyo , Yamada Sayaka , Nishikido Ayaka , Yoshioka Masayuki , Katano-Toki Akiko , Ishida Emi , Yamada Eijiro , Horiguchi Kazuhiko , Yoshino Satoshi , Matsumoto Shunichi , Yamada Masanobu 
Published: May 2020

Abstract
Recent studies showed that various factors, including age, gender, race, iodine intake, obesity, the thyroid peroxidase antibody (TPO-Ab), and/or smoking, influence the thyroid status. In the present study, we analyzed and investigated the effects of these factors, particularly smoking and the thyroid peroxidase antibody (TPO-Ab) in Japanese euthyroxinemia individuals with serum free T4 level within normal range. A total of 12,289 subjects who underwent health check-ups were analyzed in a cross-sectional and longitudinal study. The mean age of subjects was 50 ± 10 years (age range: 21–88 years). Serum TSH levels and the prevalence of positivity for TPO-Ab increased with age in Japanese euthyroxinemia subjects. Mean and median serum TSH levels increased with age in smokers and non-smokers, but were significantly lower in smokers than in non-smokers among men and women in most age groups; the median 97.5th percentiles of TSH levels were 1.2 mU/liter and 2.9 mU/liter in smokers, and 1.4 mU/liter and 3.9 mU/liter in non-smokers in 31- to 40-year-old men, p&lt;0.01, and 1.4mU/liter and 4.3 mU/liter, and 1.8mU/liter and 6.2 mU/liter in 61- to 70-year-old men, p&lt;0.01. However, smoking had a negligible effect on serum TSH levels in women older than 50 years; 1.3 mU/liter in smokers and 1.6 mU/liter in non-smokers in 31- to 40-year-old women, p&lt;0.01, and 1.5 mU/liter and 1.8 mU/liter in 51- to 60-year-old women, p=0.3. Furthermore, the present study confirmed that serum free T4 levels in men progressively decreased with age, whereas no significant change was observed in women. Smoking did not affect the relationship between age and serum free T4 levels in men or women, except for men in their 20s. Serum TSH levels were significantly higher in subjects with positivity for TPO-Ab than in those with negativity at all ages and in both genders; however, smoking did not affect free T4 levels or the positivity for TPO-Ab. The rate of smokers in men was significantly higher in patients with subclinical hyperthyroidism (25%) than in those with subclinical hypothyroidism (10%, p&lt;0.05). Furthermore, the results of the longitudinal study revealed a significant decrease in serum TSH levels one year after the start of smoking in men (p&lt;0.05). Since smoking appears to lower serum TSH levels in Japanese euthyroxinemia subjects careful consideration of the smoking status is needed when evaluating subclinical thyroid function.
MON-461 A Rare Case of Thyroglobulin Deficiency with Ectopic Thyroid Tissue
Authors: Venkataraman Sandhya , Koshy Sharmila 
Published: May 2020

Abstract
Background: The production of thyroglobulin (TG) is initiated by TSH binding to the TSH receptor leading to the transcription and production of TG protein. TG protein then gets transported to the lumen of the follicular cell where its tyrosine amino acids get iodinated and coupled to form T3 and T4. TG deficiency is a rare autosomal recessive genetic condition characterized by congenital thyroid goiter, increased thyroid uptake and primary hypothyroidism.
Clinical Case: A 21 year old South Asian female with a history of TG deficiency, hypothyroidism, and thyroid goiter status post thyroidectomy presented with a right sided neck mass. She was diagnosed hypothyroidism with a goiter at the age of five. Levothyroxine replacement was initiated and she had normal growth and development. At the age of ten upon transferring care to our health network, there was concern for enlargement of the goiter. Labs showed TSH of 2.85 uIU/mL (normal: 0.36-3.74 ulU/mL), thyroid binding globulin of 18.2 ug/mL (normal: 13-30 ug/mL), TG antibody less than 20 IU/mL (normal: less than 40 lU/mL) and TG level less than 0.2 ng/mL (normal: less than 55 ng/mL). Thyroid uptake and scan showed overall increased uptake. Genetic studies revealed homozygous mutation of thyroglobulin deficiency. Further history obtained confirmed patient’s parents were first cousins with heterozygous thyroglobulin mutations. Due to enlarging multinodular goiter with thyroid gland measuring 6.2 cm x 4 cm on the right and 6.2 x 3.6 cm on the left, total thyroidectomy was completed in 2012. Pathology showed benign thyroid tissue. In May 2019 the patient skipped levothyroxine replacement due to lapse in prescription refill and TSH increased to 28 ulU/mL. Around that time, she noticed an enlarging right sided neck mass. MRI of the neck showed an enhancing mass posterior to the submandibular gland measuring 1.6 x 1.4 cm. Fine needle aspiration in August 2019, showed a mixed population of lymphocytes and few benign appearing glandular cells. Pathology obtained after resection of the right neck mass in September 2019 revealed benign thyroid tissue with no lymphoid tissue, staining positive for TTF-1 and PAX-8.
Conclusion: TG deficiency has an incidence of 1:100,000 live births and is more common in cases of genetic consanguinity. There have been over fifty mutations of varying penetrance identified leading to differing consequences in TG production and processing. These mutations can cause structural changes in the TG protein, decreased tyrosine residue on TG leading to poor iodination and ineffective TG transport within the follicular cell. We propose that the right sided neck mass was regrowth of residual thyroid tissue due to the stimulatory effect of TSH after missed doses of levothyroxine caused TSH elevation. Our case is the first of TG deficiency wherein the patient developed ectopic thyroid tissue proliferation after a period of thyroid hormone deficiency.
MON-209 Identification of a New Heterozygous Germline ARMC5 Deletion in a Familial Case of Primary Bilateral Macronodular Adrenal Hyperplasia Co-Secreting Cortisol and Aldosterone
Authors: Salle Stefanie Parisien-La , Dumas Nadine , Lacroix André , Bourdeau Isabelle 
Published: May 2020

Abstract
Context. Approximately 50% of familial cases of primary bilateral macronodular adrenal hyperplasia (PBMAH) are caused by mutations in the ARMC5 gene.
Case report. We report the case of a 37 year-old patient of Haitian origin, who presented with resistant hypertension. His workup showed high aldosterone (410 pmol/L) with suppressed renin levels (0.2 ng/mL/h) with an aldosterone to renin ratio (ARR) of 2050. Patient also had suppressed ACTH levels (&lt;0.5 pmol/L (N: 2-12)) and high UFC (1103 nmol/d (N: &lt;330)). He had an aberrant cortisol and aldosterone response to catecholamines and vasopressin (V1R). An abdominal CT scan showed bilateral enlargement of adrenal glands and a 3.3cm dominant nodule on the right gland. Moreover, a 2.8cm mass on the pancreatic tail was present. Patient underwent left laparoscopic adrenalectomy and distal pancreatectomy; the pathology confirmed PBMAH and a pancreatic neuroendocrine tumor (NET). Following surgery, ARR and UFC remained high and patient was treated successfully with B-blockers and MR antagonists. A head MRI showed no sign of intracranial meningiomas.
Genetic analyses. Following genetic counselling, MEN1 gene analysis was performed using sequencing/MLPA techniques but did not reveal a mutation. Initial genetic testing included ARMC5 gene analysis using direct Sanger sequencing which was negative. However, using Next-Generation Sequencing (NGS) and MLPA analysis, a heterozygous germline ARMC5 deletion of exons 5-8 was identified. The deletion is predicted to prematurely truncate the protein product and cause loss of function. The ARMC5 deletion segregated with the disease in his 24 yo son who had bilateral adrenal adenomas that appeared to be non-functional. The patient’s father was also known for having bilateral adrenal masses and hypertension.
To our knowledge we report the second case of ARMC5 deletion in familial PBMAH. Suzuki et al. reported two patients, a mother and her son, carrying ARMC5 deletion of exons1-5 and interestingly they were also affected by PBMAH co-secreting cortisol and aldosterone (1). As in this case report, the ARMC5 deletion was missed using Sanger sequencing initially.
Conclusion. These cases demonstrate that large deletions may be missed by Sanger sequencing and that the real prevalence of ARMC5 mutations may have been underestimated. The link between deletion of ARMC5 and correlation with PBMAH co-secreting aldosterone and cortisol remains to be determined but may be a step forward for genotype-phenotype correlation.
1.Suzuki S, et al. Endocrine practice: official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. 2015;21 (10):1152-60.