bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT-563 The Unsuppressed Plasma Renin Activity May Not Enough for Management of Non-Surgically Treated Primary Aldosteronism
Authors: Ichijo Takamasa , Hayasaka Moe , Suzuki Takayuki , Suzuki Ayako , Saito Manabu , Hijikata Mai , Yamashita Kaoru , Ikehara Kayoko , Higa Mariko 
Published: May 2020

Abstract
It is well known the primary aldosteronism (PA) is most common endocrinological hypertension and accounted for 10% among all hypertension population, and it develops cardiovascular disease more frequently than blood pressure matched essential hypertension. Those patients with bilateral hyperaldosteronism, called idiopathic hyperaldosteronism (IHA), or unwilling for surgical treatment are treated by mineralcorticoid receptor antagonists (MRAs). Although it had been unclear how titrate MRAs to prevent atherosclerotic cardiovascular events, a managemental target for those patients was recently reported as plasma renin activity (PRA) ≥ 1.0 ng/ml/hr to prevent cardiovascular events (Hundemer GL, et. al. Lancet Diabetes Endocrinol. 2018 Jan;6(1):51-59).
Thus, we investigated 77 cases of adrenal venous sampling performed patients with PA and followed up for 3 years in our hospital since 2007, including 24 males and 53 females, and their mean age was 56.3 ± 12.5 years old. All patients underwent AVS and showed bilateral hyperaldosteronism and treated with MRAs and followed up more than 3 years. We collected blood pressure, serum sodium and potassium concentration, estimated glomerular filtration ratio (eGFR), PRA, plasma aldosterone concentration (PAC), atherosclerotic parameter, such as mean intima media thickness (IMT), brachial-ankle pulse wave velocity (baPWV) and ankle-brachial index (ABI). We evaluated the relationship of those patients’ PRA and aldosterone to renin ratio (ARR) with eGFR, IMT, baPWV, and ABI. The change of mean IMT after 3 year-follow up were 0.03 ± 0.11 mm vs. 0.06 ± 0.09 mm for well controlled (PRA ≥ 1.0 ng/ml/hr) and poorly controlled (PRA &lt; 1.0 ng/ml/hr), respectively, and no significant difference between them. In the other hand, the change of mean IMT after 3 year-follow up showed 0.03 ± 0.10 mm vs. 0.08 ± 0.10 mm for well controlled (PRA ≥ 1.0 ng/ml/hr and ARR &lt;20) and poorly controlled (PRA &lt; 1.0 ng/ml/hr or ARR ≥ 20), respectively, and the mean IMT increase was significantly lower in this group.
The mean IMT increase showed significantly lower only with PRA ≥ 1.0 ng/ml/hr and ARR &lt;20 rather than PRA ≥ 1.0 ng/ml/hr alone.
In our results, both PRA ≥ 1.0 ng/ml/hr and ARR&lt;20 are important to prevent or improve atherosclerosis, rather than only PRA ≥ 1.0 ng/ml/hr and should be titrated MRAs to achieve this target.
In conclusion, our result revealed the titration of MRAs is important to prevent atherosclerotic cardiovascular event and not only PRA ≥ 1.0 ng/ml/hr, but both PRA and ARR &lt;20 should be achieved.
SAT-749 Defining The Role Of Androgens In Hernia Associated Skeletal Muscle Fibrosis
Authors: Taylor Matthew Joseph , Zhao Hong , Potluri Tanvi , Bulun Serdar Ekrem 
Published: May 2020

Abstract
Introduction: Inguinal hernia is a highly prevalent condition occurring in 27% of adult men in their lifetime. The recurrence rate of hernia is 5-20%, resulting in a substantial cost burden in surgical repair procedures. Until recently, the mechanisms leading to the lower abdominal muscle (LAM) weakening characteristic of hernia were unknown. Our group developed the first mouse model of inguinal hernia through expression of the human aromatase enzyme in male mice (AromHum). Aromatase converts androgens to estrogens, and is expressed in the skeletal muscle in humans, but not mice. We found that locally formed estrogen from aromatase activity in LAM and decreased circulating testosterone levels are associated with muscle atrophy and fibrosis resulting in hernia. However, it is unclear how decreasing androgen levels might affect muscle fibrosis, and defining this potential mechanism could impact hernia treatment. We hypothesized that low androgen levels promote muscle fibroblast proliferation and fibrosis, and that androgen treatment would prevent hernia progression in AromHum mice.
Methods: Arom Hum mice (3 weeks old) were treated with high-dose dihydrotestosterone (DHT) via injection for 7.5 weeks with hernia volume continuously recorded (n=5/group). Primary fibroblasts were isolated from LAM from WT and AromHum mice (n=5/genotype). Cells were treated for 24 hours with increasing doses (0.001, 0.01, 0.1, 1, 5, 10 and 100 nM) of R1881, a synthetic androgen, and compared to untreated cells by western blot.
Results: Hernia volume was significantly decreased in AromHum mice treated with DHT compared to vehicle-treated mice, and volume remained consistently suppressed after DHT treatment (p &lt; 0.005). In both primary fibroblast lines, R1881 treatment increased AR levels in a dose dependent manner, indicating that the treatment was effective. Preliminary data indicated that low doses of R1881 (0.001 and 0.01 nM) increased PCNA levels in LAM WT and LAM AromHum fibroblasts. Densitometry normalized to GAPDH showed 80% and 60% increases for 0.001 nM and 0.01 nM respectively in LAM WT fibroblasts, and 20% and 30% increases at these doses in LAM AromHum fibroblasts. Higher doses of R1881 decreased PCNA levels in LAM AromHum fibroblasts by 40% (10 nM) and 30% (100 nM), whereas a 25% decrease was detected in LAM WT fibroblasts at 100 nM.
Conclusion: These data suggest that low androgen doses increase LAM fibroblast proliferation, which possibly contributes to hernia formation. Androgen treatment at higher doses can partially block the progression of hernia in vivo. However, it is unclear whether and how androgen deficiency in combination with excess estrogen affects fibroblast proliferation and hernia formation. Additional research is required to determine if androgen supplementation in sufficient doses is a potential therapeutic for inguinal hernia and other muscle weakness diseases.
SAT-678 New Onset Type 1 Diabetes and Immune Thrombocytopenic Purpura in an Adolescent Male: A Case Report
Authors: Gonzalez-Garcia Zoe Milagros 
Published: May 2020

Abstract
INTRODUCTION:
Type 1 diabetes mellitus (T1D) is an autoimmune condition caused by anti-pancreatic antibodies which attack and destroy the insulin-producing beta cells. Similarly, in immune thrombocytopenic purpura (ITP), anti-platelet antibodies destroy platelets, causing low platelet counts which can lead to petechiae and bleeding. Common autoimmune conditions seen in children with T1D include thyroid and celiac disease. Previous case reports discussed ITP in children with known T1D. Our patient presented with new onset T1D and diabetic ketoacidosis (DKA) in addition to new onset ITP.
CLINICAL CASE:
The patient is a 12 year old previously healthy male with a several week history of polyuria, polydipsia and nocturia, in addition to fatigue and lack of weight gain in the previous two years. Initial labs confirmed diagnosis of T1D with hemoglobin A1c of 12.9% and serum glucose of 460 mg/dL, in addition to DKA, with bicarbonate of 13 mmol/L, pH of 7.30, elevated anion gap and beta-hydroxybutyrate. Due to the presence of DKA, the patient was started on an insulin drip. Thyroid labs showed hyperthyroidism, with TSH- &lt;0.02 (0.5-4.5 mIU/L) and free T4- 2.84 (0.7-1.68 ng/dL), so he was started on methimazole 20 mg daily. Confirmatory pancreatic antibodies and thyroid antibodies were sent. CBC showed thrombocytopenia with initial platelet count of 41,000, hemoglobin of 16.9 g/dL, and white blood cells of 5.05. Follow up platelets continued low at 37,000, so he was seen by a hematologist, which confirmed the Diagnosisx of ITP. Patient had a history of easy bruising in arms and legs, one episode of epistaxis and minimal bleeding after brushing teeth, with negative history of hematuria. Follow up labs resulted in negative thyroid antibodies (TPO Ab, TSI and thyroglobulin Ab) with normalization of labsthyroid function tests, so the methimazole was discontinued. Patient is being followed by Hematologya hematologist, and pancreatic antibodies were done, which were negative. Hematology concurred with diagnosis of ITP despite negative antibodies due to diagnosis of T1D. First line therapy for ITP is IVIG and steroids, however due to national shortage of IVIG and risk for worsening hyperglycemia with steroids, these were avoided. Instead, patient was started on Eltrombopag daily for treatment of his ITP. Platelet count has improved on eltrombopag, with latest range of 126-146,000. Latest hemoglobin A1c is of 6.2%.
CONCLUSION:
In the case of new onset type 1 diabetes mellitusT1D, it is’s important to keep in mind that ITP is another autoimmune condition that can present in these patientspresent. In addition to IVIG and steroids, Eltrombopag is a good ttreatment option that does not interfere with glycemic control. More research is needed to measure the frequency of ITP among patients with type 1 diabetes.
MON-075 Autonomy and Self-Determination in a Patient with XY Gonadal Dysgenesis
Authors: Moryan-Blanchard Kristen , Karaviti Lefkothea P , Axelrad Marni 
Published: May 2020

Abstract
Background:
XY gonadal dysgenesis is characterized by the presence of male chromosomes with atypical testes differentiation. Due to an impaired ability to make testosterone, patients are often under-virilized at birth and present with ambiguous genitalia. For multidisciplinary teams specialized in disorders of sex development (DSD), gonadal dysgenesis presents challenges in sex assignment, initiation of hormonal therapy, and timing of surgical interventions. Recent discussions have reconsidered early interventions in favor of preserving self-determination in decisions regarding gender and anatomy.
Case:
LT initially presented at 3 years old, after her grandmother noted her abnormal appearing genitalia. Examination revealed clitoromegaly, 1.8 cm in length and 0.8 cm in width, with a blind, open introitus. XY gonadal dysgenesis was diagnosed, based on a pelvic MRI, cystourtheroscopy/vaginoscopy, genetic and hormonal testing.
LT was lost to follow-up for 6 years. At 11 years old, LT had been consistently raised as a female. When asked about gender identity, LT’s understanding of gender identity developed over time. At 11 years old, LT declared her gender identity as a “boy”, because boys are “strong”, and because she did not like make-up. LT denied any desire for breast development and explained that her family told her that breasts ‘make it hard to run fast.’
On follow-up evaluation 6 months later, LT voiced her decision to be a girl, and said that she was very confident in this decision. LT and her parents both desired estrogen therapy for induction of puberty. After discussions regarding the permanent effects of therapy, LT started hormone therapy. Two months after initiation of therapy, she remained firm in her gender identity and expressed a desire to grow her hair long. She independently stated that she did not desire surgery at this time. She will receive formal psychological testing at her next clinical evaluation to evaluate her for body dysmorphia, anxiety, and depression.
Discussion
LT’s case demonstrates the progression of developmental understanding of gender and expressed gender identity that may occur as learning progresses in patients with DSDs. This case also shows that a delay in surgery may not have significant developmental consequences to these patients as was previously suggested. In general, the American medical system has tended to perform early sex assignments and surgical interventions to align anatomy with the sex assignment. However, after thoughtful discussions regarding human rights concerns, many have recommended to delay surgical interventions until adolescence, when the patient can consent appropriately to interventions that cause permanent anatomic changes. As many of these interventions may be discussed in early adolescence, it is of the utmost importance that information is presented in an understandable and developmentally appropriate manner.
MON-458 Elevated Thyroglobulin Level in Benign Thyroid Nodule
Authors: Murphy Cara , Gupta Ankur 
Published: May 2020

Abstract
Background: Elevated thyroglobulin levels are most commonly associated with differentiated thyroid carcinoma and these levels are often used to monitor for disease recurrence. Thyroglobulin antibody levels can be elevated in both Hashimoto’s Thyroiditis and Graves’ Disease and these antibodies can interfere with thyroglobulin levels as detailed by Spencer, Wang (1). With benign thyroid nodules, there is limited research regarding thyroglobulin levels as studied in Chinnappa, et al (2).
Clinical Case: A 31-year woman presented with a palpable thyroid nodule and dysphagia. Her primary care physician ordered thyroid labs including normal TSH (1.3 mIU/L, n0.4-4 mIU/L), normal thyroid peroxidase antibody (56 units, n&lt;250units), normal thyroglobulin antibody level (&lt;1 IU/mL, n&lt;1 IU/mL), and elevated thyroglobulin level (469.1 ng/mL, n2.8-40.9 ng/mL). Her thyroglobulin levels remained elevated on repeat testing (224.4 ng/mL, n2.8-40.9) one month later. In addition, her thyroglobulin lab studies were repeated with HAMA treatment and remained elevated (277.7 ng/mL, n2.8-40.9). Office ultrasound showed longest dimension of nodule to be 5 cm and patient received FNA biopsy. Biopsy results were reported as a benign nodule and it was recommended to follow-up in 12 months. Six months later the patient reported having increasing dysphagia. She underwent Barium swallow which showed no abnormalities. She had a growth increase of 35% on repeat imaging along with increasing neck pressure and discomfort and was referred to an ENT for surgery. Final pathology after left thyroid and isthmus thyroidectomy was reported as “Multinodular hyperplasia with background thyroid parenchyma histologically unremarkable. Negative for malignancy.” Thyroglobulin levels subsequently returned to within the normal range and the patient’s dysphagia resolved.
Conclusion: Thyroglobulin levels can be markedly elevated with benign thyroid nodules, which can mislead physicians and increase concern for thyroid cancer.
References: (1) Spencer, CA, Wang, CC. Thyroglobulin measurement. Techniques, clinical benefits, and pitfalls. Endocrinol Metab Clin North Am. 1995 Dec; 24(4): 841-63.
(2) Chinnappa, P, Taguba, L, Arciaga, R, Faiman, C, Siperstein, A, Mehta, AE, Reddy SK, Nasr, C, Gupta MK. Detection of thyrotropin-receptor messenger ribonucleic acid (mRNA) and thyroglobulin mRNA transcripts in peripheral blood of patients with thyroid disease: sensitive and specific markers for thyroid cancer. J Clin Endocrinol Metab. 2004 Aug;89(8):3705-9.
SAT-480 Myxedema Madness: A Rare Case of Severe Hypothyroidism Presenting as Psychosis
Authors: Kohm Kevin , Vekaria Shivani , Xu Jack , Nasr Carol , Hogshire Lauren 
Published: May 2020

Abstract
Introduction
Myxedema coma is a rare, life-threatening medical emergency resulting from uncontrolled hypothyroidism. Myxedema coma refers to the neurological sequelae of severe hypothyroidism, which classically manifests as depressed mental status. Rarely, myxedema coma can present with a hyperactive mental state and psychosis. We present an unusual case of a drug overdose secondary to myxedema coma-induced psychosis.
Clinical Case
A 48 year old woman with a history of seizure disorder and hypothyroidism presented to the hospital after lamotrigine overdose. The patient’s spouse witnessed her ingest forty-five tablets of lamotrigine after an argument. The patient had no previous psychiatric diagnoses or suicide attempts. On examination, the patient was hemodynamically stable but was agitated, disoriented, and uncooperative. She had a normal neurologic exam and no peripheral edema. Her lamotrigine level was 25.4 ug/ml (2.5-15.0 ug/ml). The patient’s mental status did not improve with lamotrigine cessation. Psychiatry determined that the patient’s psychosis was not consistent with lamotrigine overdose. Given these recommendations, alternative causes of psychosis were considered. The patient’s husband stated she had not taken levothyroxine for over one year. Thyroid function tests revealed a thyroid stimulating hormone (TSH) of 299 mcIU/ml (0.35-5.50 mcIU/ml) with a free thyroxine (T4) level of 0.27 ng/dl (0.89-1.76 ng/gl). The patient was started on levothyroxine intravenously. After five doses of intravenous levothyroxine, her mental status improved to baseline and she was transitioned to oral levothyroxine. She denied that the lamotrigine ingestion was a suicide attempt. Based on the patient’s presentation and clinical course, we concluded that her overdose was due to severe hypothyroidism leading to myxedema madness.
Conclusion
Severe hypothyroidism with myxedema coma often presents with depressed mental status, which can manifest as progressive confusion, lethargy, and eventually coma. However, in the case of our patient, severe hypothyroidism presented as psychosis, a rare manifestation. Remarkably, the patient had no other obvious physical manifestations of severe hypothyroidism. Psychosis, though rare, has been seen in cases typically after thyroidectomy or in patients with previously undiagnosed Hashimoto’s thyroiditis. In this patient’s case, it is likely that her myxedema madness was precipitated by long-term nonadherence with her thyroid replacement therapy, as the patient had no prior psychiatric history. Additionally, her rapid reversal of symptoms after the administration of levothyroxine supports the diagnosis of hypothyroid-induced myxedema madness.
SAT-350 A Tale of Two Mutations: Familial Hypocalciuric Hypercalcemia Caused by a Novel CaSR Start Codon Mutation Found in the Setting of a CaSR Hypercalciuric Variant
Authors: Bandaru Sindhura , Pelley Elaine Michelle 
Published: May 2020

Abstract
Background: The calcium-sensing receptor (CaSR) mediates PTH production and renal calcium excretion by sensing circulating calcium levels. Activating mutations in the CaSR can cause a spectrum of phenotypes from overt hypoparathyroidism to isolated hypercalciuria. Inactivating mutations of the CaSR lead to the syndrome of familial hypocalciuric hypercalcemia (FHH) where the protein produced is less sensitive to calcium. A mutation in the start codon of the CaSR leading to FHH has not previously been reported. Case: 60-year-old female was seen for evaluation of osteoporosis with lowest T- score of -2.9 at spine. She had no family history of calcium disorders. Biochemical evaluation for secondary etiologies of bone loss showed persistent PTH-dependent hypercalcemia (with albumin-corrected serum calcium of 10.4-10.8 mg/dl, and PTH 64-78 pg/ml), initially raising suspicion for primary hyperparathyroidism. Subsequent testing showed a low 24-hour urine calcium (82 mg/day) despite adequate daily calcium intake, robust 25-hydroxy vitamin D levels (47 ng/ml), and normal renal function. Calcium/creatinine clearance ratio was low at 0.0064 and FHH was suspected. CaSR gene sequencing revealed two heterozygous abnormalities: (1) a likely pathogenic mutation in the start codon of the CaSR (c.3G&gt;A (p.M1?)) that has not been previously reported (p.M1? indicates that it is not known whether the mutation leads to no CaSR being produced from that allele or if an abnormal protein is produced using an alternate methionine start codon) and (2) a low-prevalence activation mutation variant of the CaSR (p.R990G), which is associated with hypercalciuria and increased risk of kidney stones but generally does not cause hypocalcemia. Genetic testing was unable to determine if these two mutations were on the same (cis) or opposite (trans) alleles. If they are on opposite alleles, the phenotype represents the heterozygous loss-of-function CaSR abnormality with compensation by an activating mutation in the opposite allele. If they are on the same allele, the activating variant is either not expressed at all due to nontranslation or is located on an abnormal/shortened protein. CaSR sequencing of the patient’s daughter was normal. In the absence of recombination occurring between the two loci, this strongly suggests the two were on the same allele in this case. Discussion: Thus far, &gt; 100 mutations in the CaSR gene causing FHH have been described; but to our knowledge, this case is the first report of a start codon mutation causing FHH. This happened to be identified in the setting of a low-prevalence hypercalciuric variant. Familial testing strongly suggested the two mutations were on the same allele. The activating mutation, therefore, was likely functionally silenced in this case.
SAT-121 Secretin Stimulation Test in a Patient Receiving Proton PUMP Inhibitor Therapy- to Do or Not to Do?
Authors: Madhavan Parvathy , Aftab Hassaan , Tendler Beatriz 
Published: May 2020

Abstract
Introduction:
Complications of gastrinoma cause increase in mortality in patients with MEN syndrome. There are concerns that secretin stimulation test (SST) can produce false positive results in the setting of proton pump inhibitor (PPI) use. However, withholding the PPI treatment in a patient with severe peptic ulcer disease can be potentially unsafe. There is also a theoretical concern that abrupt withdrawal of PPI will cause a surge in gastrin. Here we discuss a case where SST yielded impressive results despite the use of PPI.
Case report:
78 y.o. Caucasian male presented in December 2018 with chronic nausea, vomiting, diarrhea of 5-year duration. Further evaluation showed severe esophagitis with strictures, multiple gastric and duodenal ulcers and he was initiated on PPI. He also had h/o hyperparathyroidism diagnosed 2 years ago s/p parathyroidectomy (2 of 4 parathyroid glands removed) and one kidney stone in his late 20s and early 70s. He had no family history of any endocrine issues. Physical examination was unremarkable. Labs were significant for gastrin levels (nl &lt;100 pg/mL) of 375 pg/mL in 6/2016 and 219 pg/mL in 11/2018. SST was performed on 12/22/2018 which showed gastrin levels as follows: -10 min=405 pg/mL, - 5 min=404 pg/mL, + 2 min=3201 pg/mL, + 5 min=3439 pg/m, +10 min=2445 pg/mL, +20 min=1218 pg/mL, +30 min=578 pg/mL. He was diagnosed with gastrinoma based on the SST results. Genetic testing did not show any pathogenic sequence variants or deletions/duplications identified in MEN-1; CASR; CDC73; CDKN1B or RET. Given history of hyperparathyroidism and gastrinoma, he was clinically diagnosed with MEN1 syndrome. Ga-68 DOTATATE scan in May 2019 revealed focal radiotracer avidity in the tail the pancreas suspicious for neuroendocrine tumor and multiple radiotracer avid retroperitoneal and abdominal lymph nodes. Focal radiotracer avid lesion was also noted in the sacrum suspicious for osseous metastatic disease. He was started on lantreotide monthly injections in July 2019. Gastrin level decreased to 94 pg/mL 1 week after first injection, however later increased to 304 pg/ml 1 week after third dose of lantreotide. Surgical options are also being explored.
Conclusion:
An increase in more than 120pg/mL over basal gastrin level within 10 min in SST is consistent with a diagnosis of gastrinoma. Our patient demonstrated an impressive increase in gastrin level with SST while on PPI therapy. Pertinent diagnostic information was successfully obtained without increasing the risk of complications that can occur by withdrawal of PPI therapy.