bluuebunny/crossref_metadata_2025_split huggingface dataset:
SUN-LB13 Idiopathic Infantile Hypercalcemia Secondary to CYP24A1 Mutation: A Rare Case Without Exogenous Vitamin D Supplementation
Authors: Tell Shoshana , Finn Erin , Ohman-Hanson Rebecca Anne , Ma Nina 
Published: May 2020

Abstract
Background: Mutations in CYP24A1, which encodes 24-hydroxylase, the key enzyme for Vitamin D breakdown, cause symptomatic hypercalcemia and nephrocalcinosis in infants on Vitamin D supplementation. New, symptomatic diagnoses of idiopathic infantile hypercalcemia without exogenous supplementation are rare. Previous case reports describe a seasonal effect with worsening hypercalcemia and hypercalciuria during summertime, attributed to increased sun exposure and endogenous Vitamin D production. Clinical Case: A 10-month-old female presented to endocrine care with hypercalcemia and nephrocalcinosis, detected on renal ultrasound (US) due to history of UTI. Her first renal US and serum calcium (Ca) at 3mo of age were normal. Subsequent renal US at 6mo and 9mo of age demonstrated nephrocalcinosis, prompting nephrology and endocrine evaluation. History was significant for failure to thrive. She was born in the fall, with worsening hypercalcemia and nephrocalcinosis during the summer. Diet consisted of standard infant formula and age appropriate solid foods with no added Vitamin D supplementation (~300 IU/day in her formula). She had no family history of nephrocalcinosis, nephrolithiasis, bone disease, or disorders of Ca regulation. Initial labs were notable for Ca corrected for albumin 11.5 (7.8-11.1 mg/dL), PTH &lt;4 (8.7-77.1 pg/mL), 25-OH-Vitamin D 81 (30-96 ng/mL), 1,25-OH-Vitamin D 23.1 (26.1-95 pg/mL), Urine Ca/creatinine ratio of 0.9 mg/mg (&lt;0.81), normal chromosomal microarray, and normal thyroid function tests. She was started on reduced mineral formula PM 60/40. One week later, repeat Ca level increased to Ca corrected 14.2 (7.8-11.1 mg/dL). She was admitted for IV fluids and pamidronate, and was transitioned to a low Ca and Vitamin D formula (Calcilo), with improvement in Ca levels. Testing revealed an increased ratio of 25-OH-Vitamin D to 24,25-OH-Vitamin D of 192 (normal &lt;25), and genetic testing showed 2 pathogenic missense mutations in CYP24A1 genes: c.1226T&gt;C p.(Leu409Ser) and c.1186C&gt;T p.(Arg396Trp). The Leu409Ser mutation has shown a small amount of 24-hydroxylase activity in previous in vitro analysis. She has continued a low Ca diet with stable Ca corrected of 10.7-10.8 (8.7-9.8 mg/dL) and significantly improved weight gain. Conclusion: This is one of the few documented cases of symptomatic idiopathic infantile hypercalcemia secondary to CYP24A1 mutation in an infant without exogeneous Vitamin D supplementation. Her nephrocalcinosis and hypercalcemia worsened over the summer, suggesting increased sun exposure may have been a contributing factor. This case demonstrates that 1,25-OH-Vitamin D levels may be normal or low in this condition, particularly for individuals with the Leu409Ser mutation who may retain partial 24-hydroxylase function.
SUN-LB18 Serum 25-Hydroxyvitamin D Is Not Associated With the Type of Central Precocious Puberty in Girls
Authors: Xu Liya , Li Pin , Guo Sheng , Yuan Dandan 
Published: May 2020

Abstract
[Objective] To evaluate the clinical value of serum 25-hydroxyvitamin D (25OHD) in girls with different types of central precocious puberty (CPP), in order to provide basis for the clinical diagnosis and treatment.
[Methods] 340 CPP girls diagnosed in our hospital from January 2016 to January 2018 were enrolled and retrospectively studied. According to the progression of Tanner stage ≥1 during 6 months, bone age(BA) levels were higher than chronological age of more than 1 year. 226 patients were included in the rapidly progressive CPP group (RP-CPP), while 114 patients were included in the slowly progressive CPP group (SP-CPP) as a control. We analyzed the correlation between serum 25OHD levels and the different puberty characteristics (BA, disease course, body mass index (BMI), bone mineral density (BMD), serum LH peak to FSH peak ratio (LHP/FSHP), insulin-like growth factor 1(IGF1)) of two groups. According to sunshine duration, the sampling season was divided into two groups (December to May, June to November), then we compare the correlation between different serum 25OHD levels and season of sampling as well as the different puberty characteristics respectively.
[Results] (1) The mean serum 25OHD levels of CPP girls were 15.89±6.87ng/ml. The 25OHD levels of 68 (20.0%), 95 (27.9%) and 167 (49.1%) patients were &lt;10, 10-15 and 16-29 ng/mL, respectively. Only 10 (2.9%) patients had normal 25OHD (&gt;30 ng/mL). (2) No significant difference in serum 25OHD levels between RP-CPP group and SP-CPP group (F =0.809, p=0.369) was found. There is no correlation of BMD and disease course between the two groups (p&gt;0.1). Bone age, BMI, LHP/FSHP and IGF1 levels in RP-CPP group were higher than SP-CPP group (P&lt;0.05). Logistic regression analysis showed that BMI, LHP/FSHP and IGF1 were the independent risk factors for CPP (OR 2.690, 1.005, 3.288, respectively). (3) There were significant differences among different serum 25OHD levels as for season, disease course and IGF1 (p&lt;0.05). The correlation with the season was the highest (r=0.402, p&lt;0.001).
[Conclusions] (1) Vitamin D levels are generally insufficient in CPP girls and are not related to different types of CPP. (2) The higher BMI, IGF1, LHP/FSHP levels are, the easier CPP girls will transfer to RP-CPP, but not associated with vitamin D levels. (3) CPP girls suffer from vitamin D deficiency in seasons of winter and spring easilier.
MON-LB78 Thyroid Nodules &gt; 4cm: High-Risk for Malignancy or Not?
Authors: Fishel Heather , Rao Ambika 
Published: May 2020

Abstract
Background: Thyroid nodules are very common in adults. One percent of men and 5% of women have nodules on exam, and 19-68% of adults have thyroid nodules on ultrasound. Majority (85-90%) of them are benign. Most concerning is the diagnosis of thyroid cancer. These nodules can be stratified into risk groups based on ultrasonographical criteria. There are 5 internationally endorsed sonographic classification systems (ATA, ACR, European Thyroid Association and Korean Society of Thyroid Radiology). After classification, decision to perform FNA biopsy is made based on size of the nodules. Some of the other parameters that have been considered to increase risk of cancer are BMI, TSH level, radiation exposure to the neck before puberty and family history of thyroid cancer. Cytogenetic testing of the FNA specimen may also help determine the need for excision.
Study Design: We retrospectively studied a group of veterans referred for endocrine consultation for thyroid nodules that had undergone FNA based on ACR and ATA ultrasonographical classification (total of 127 nodules). On reviewing these charts over the past 4 years, we noted that approximately 39% (49/127) of the nodules were &lt;2cm, 35% (44/127) were 2-4cm and 26% (34/127) were &gt;4cm in size. We examined patient demographics and characteristics of nodules &gt;4cm, since it is frequently a dilemma whether to clinical monitor these nodules or refer them for surgical excision.
Results: Seventeen percent of patients were females. Majority were between 60-65 years of age, had a BMI 30-35 and TSH of &lt;2. Based on review of ultrasound images and ACR and ATA classification, 55% of the nodules (19/24) had a score of 4-6 points on the TIRAD’s scale and based on ATA classification, 52% (18/34) were in the high-risk category. The ultrasound-guided FNA results showed that 65% were benign-Bethesda II (22/34), 12% were Bethesda III (4/34) and IV, 3% Bethesda V (1/34) and 15% Bethesda I (5/34). Eighteen percent of the nodules were referred for surgical excision (6/34); 3% were malignant (1/34), and the rest were benign (27/34).
Discussion: It is unclear if the risk of thyroid cancer in nodules &gt;4cm is any different from that of smaller nodules and if there should be different criteria used in nodules &gt;4cm for risk stratification. Other questions to address are how these nodules should be monitored for growth and what criteria should be used to determine need for surgical intervention, other than FNA results or compression symptoms. Recent studies looking at growth of thyroid nodules over time do not indicate clear predictors for malignancy. Further studies are needed.
SAT-278 Vaginal Cabergoline: A Simple Solution to a Challenging Problem
Authors: Abuaisha Munder , Gibbs Otto , Bier Rachel 
Published: May 2020

Abstract
Introduction: Prolactinomas is a common endocrine disorder that can be associated with significant morbidity. Generally, prolactinomas are more responsive to pharmacologic treatment than any other types of pituitary adenoma. Dopamine agonists (DA), including cabergoline and bromocriptine, are the first line of treatment in all sizes of prolactinomas and they decrease both the secretion and size of these adenomas. However, treatment remains challenging for patients who are intolerance to those medications. Case: We report a 32-year-old Hispanic woman who presented with secondary amenorrhea, she was found to have hyperprolactinemia of 1496 mcg/L. MRI of the brain showed a pituitary adenoma measuring 2.7 cm with sella turcica invasion and mass effect on the optic chiasma. She failed the lowest doses of oral cabergoline and bromocriptine and underwent TSS and gamma knife radiosurgery. Given her persistent symptoms (marked depression, insomnia, fatigue, short-term memory loss, and lack of concentration along with constipation) and elevation of prolactin, she was started on low dose vaginal cabergoline leading to a marked improvement of her symptoms and a steady decrease in serum prolactin. Discussion: Despite the availability of DA as a first-line treatment of Prolactinoma, treatment remains challenging, given the commonly reported side effects for all DA. Cabergoline is oftentimes the treatment of choice due to efficacy and favorable side-effect profile. However, intolerance to those medications can lead to discontinuation of therapy and increase morbidity. Other strategies, including transsphenoidal surgery (TSS) or radiation therapy, have been considered for the minority of patients whose adenomas are resistant to DA or who cannot tolerate these drugs. Interestingly, tolerance to DA can be improved by administering the drug intravaginally, which can have similar efficacy to the oral route and a more favorable side-effect profile. However, only a few studies assessed the effectiveness and tolerance of vaginal DAs in hyperprolactinemic patients intolerant to oral medications, little evidence supports the use of intravaginal DA to improve drug tolerance, and further studies are necessary to determine the safety and efficacy of vaginal cabergoline.
SAT-LB116 Extreme Insulin Resistance: The Diagnostic Challenges When Cost Is a Limitation
Authors: Cavalcante Parr Nadia Carenina Nunes , Leong Jaclyn , Fazel Maryam , Te Charisse , Pendergrass Merri Lou 
Published: May 2020

Abstract
Introduction: Insulin resistance occurs most commonly in association with obesity but may result from multiple causes, e.g. medications, lipodystrophy, or antibodies to insulin or insulin receptors. We review a case of an unusual presentation of insulin resistance. We highlight challenges of diagnostic testing and treatment when there are cost limitations. Clinical Case:A 41 year old Hispanic male with T2DM and a history of well-controlled BPD on quetiapine only presents for management of diabetes. His current treatment is metformin and a TDD of 170 U human insulin; A1C is 12.2%. He was diagnosed at age 32 via routine lab tests. At diagnosis BW was 96.4 kg, BMI 29, BP 100/70, CHOL 152, TG 247, HDL 35, LDL 68. Physical exam was unremarkable without acanthosis or lipodystrophy. Anti-GAD, anti-islet cell antibodies, insulin and C-peptide levels were ordered, but not obtained due to cost. He was managed with lifestyle modification for 2 years with maintenance of A1C &lt;7%. At age 35 he developed symptomatic hyperglycemia with A1C 9.4% and was started on metformin and glyburide. At age 36 A1C was &gt;11%, with no change in BW. Glargine 5 U was added, and glyburide was changed to glipizide. Glargine was increased to 40 U without changes in glycemia. At age 37 glipizide was stopped, and he could not afford glargine. He was switched to 70/30 human insulin. Insulin dosages were progressively increased to 220 U a day with no change in glycemia. Liraglutide was tried but not continued due to cost, and quetiapine was switched to trazodone without improvement in A1C. LFTs, CBC, HIV, Hepatitis C and B have been negative. The patient has had multiple visits for education with documented adequate disease understanding and performance of injections. Nonadherence was suspected; for its evaluation, the patient was observed in clinic self-injecting 30 U of regular insulin (brought from home); fasting was confirmed for 3hrs post-injection. BG was 327mg/dL pre-injection and 326mg/dL 3hrs post-injection. Insulin antibodies were requested but not obtained due to cost. Insulin receptor antibodies are not commercially available in the US. Potential empiric strategies, e.g. the NIH protocol for insulin type B resistance (rituximab + dexamethasone + cyclophosphamide) was considered but cost is a limitation. We discussed steroids or methotrexate for possible antibody mediated insulin resistance versus a trial of thiazolidinedione, which has been reported to decrease severe insulin resistance in patients with lipodystrophy. The patient opted to initially try a thiazolidinedione. Conclusion:Although poor adherence has not been excluded, the patient appears to have no response to high doses of injected human insulin, suggesting extreme insulin resistance. Cost limitations preclude optimal diagnostic evaluation. Empiric treatment with low cost options potentially may provide diagnostic information as well as efficacious treatment.
MON-LB034 A Severe Case of Pheochromocytoma Presenting as Classic Takotsubo’s Cardiomyopathy With Rapid Resolution
Authors: Sarma Shohinee , Hernandez Karen Ester Gomez 
Published: May 2020

Abstract
Background: Inverted Takotsubo’s cardiomyopathy requiring extra-corporeal membrane support (ECMO) with pheochromocytoma is well described. Classic Takotsubo’s cardiomyopathy, however, is rarely described in this setting.
Clinical Case: A 50-year old woman with no previous comorbidities presented with pulmonary edema and cardiogenic shock. She required rapid escalation of vasopressor, inotrope, and intra-aortic balloon pump then ECMO with consideration of cardiac transplant. Initial echocardiogram showed an ejection fraction of 17%. Coronary angiography showed apical ballooning in keeping with classic Takotsubo’s cardiomyopathy. Abdominal ultrasound for transplant screening showed a 4.6 cm abdominal mass. Computed tomography confirmed a 4.6 cm mass with classic radiologic features of pheochromocytoma. Plasma free normetaphrine and metanephrine were elevated at 2.34 nmol/L and 0.25 nmol/L. A 24-hour urine collection included urine volume of 3500 ml, urine creatinine 7.2 mmol/day, elevated urine norepinephrine 1199 nmol/day, elevated urine epinephrine 888 nmol/day, and normal urine dopamine 335 nmol/day. Parathyroid hormone and calcitonin were normal at 0.4 pmol/L and 4.8 pmol/L, respectively. Plasma aldosterone was normal at 87 pmol/L and plasma renin normal at 3.5 ng/L. Doxazosin 1 mg daily was initiated and she had clinical improvement next day and came off ECMO. Her ejection fraction improved to 55% subsequent week. She had retroperitoneoscopic adrenalectomy two weeks later with full recovery.
Conclusion: Classic Takotsubo’s cardiomyopathy is a possible presentation of pheochromocytoma with rapid resolution with alpha blockade.
MON-LB74 The Problem of Measuring 1,25(OH)2 Vitamin D in Patients With High Levels of 25(OH) Vitamin D
Authors: Vieira Jose Gilberto , Okai Guilherme , Ferrer Cláudia , Cardozo Karina 
Published: May 2020

Abstract
Recently, the use of Vitamin D in high doses for treatment of several conditions, mainly autoimmune in nature, has been advocated with dubious results. Hypercalcemia is an important side effect of this intervention. Here we describe our findings in samples that presented 25(OH)D in excess of 150 ng/mL (375 nmol/L) and had 1,25(OH)2D also measured.
Material and Methods: we used serum samples from our diagnostic routine, received for measurement of 25(OH)D and 1,25(OH)2D according to medical requisition. A first group (group A) included 213 samples collected up to November 2018, used Diasorin’s chemiluminescent assays for 25OHD and 1,25(OH)2D, and a second group (group B), comprising 88 samples, used the same 25(OH)D assay and LC-MS/MS method for 1,25(OH)2D.
1,25(OH)2D measurement in the group A used a chemiluminescent competitive assay (Liason XL, Diasorin). The 1,25(OH)2D LC-MS/MS assay includes a previous sample prep, extraction, derivatization and chromatrography. APCI+ is followed by SRM (Selected Reaction Monitoring) and CAD (Collision Activated Dissociation) fragmentation. Precision studies showed, between run CVs of 6.8% to 7.4% and within run of 2.9% to 5.5%.
In vitro investigations testing standards and spiked samples with 25(OH)D3, 25(OH)D2, 3-epimer-25(OH)D3 and 24R,25(OH)2D3 were also used to verify possible analytical interferences in the 1,25(OH)2D LC-MS/MS.
Results: in group A, 25(OH)D median was 371 ng/mL (928 nmol/L), range 154 ng/mL to 856 ng/mL; 1,25(OH)2D median of 350 pg/mL (875 pmol/L), range 41 pg/mL to 1280 pg/mL. Correlation (Spearman) between 25(OH)D and 1,25(OH)2 was r= 0.8649 (P&lt;0.001). In group B, 25(OH)D showed a median of 349 ng/mL (872 nmol/L), range 171 to 756 ng/mL; 1,25(OH)2D median of 54 pg/mL (135 pmol/L), range 24 pg/mL to 108 pg/mL. Correlation between 25(OH)D and 1,25(OH)2 was r= 0.185 (P= 0.08).
In group A 189 samples had calcium measurement (median 9.7 mg/dL, range of 8.7 to 13.6 mg/dL), 182 creatinine (median of 0.8 mg/dL range of 0.3 to 1.8 mg/dL) and 179 PTH (median 19 pg/mL, range 5 to 68 pg/mL). In group B 75 cases had measurements of calcium (median 9.7, range 8.6 to 16.6 mg/dL), 75 of creatinine (median 0.8, range 0.3 to 2.5 mg/dL) and 75 of PTH (median 20, range 9 to 49 pg/mL).
The in vitro tests showed a slight interference from 25(OH)D3, 3-epimer-25(OH)D3 and 24R,25(OH)2D3 molecules in the LC-MS/MS method.
Conclusion: our results confirm data already published showing interference of high levels of 25(OH)D in 1,25(OH)2D measured by immunoassay and, in a milder way, by LC-MS/MS (1). V. Care should be taken in the interpretation of 1,25(OH)2D values in samples with high 25(OH)D values.
1. Hawkes CP, Schnellbacher S, Singh RJ, Levine MA. 25-Hydroxyvitamin D can interfere with a common assay for 1,25-dihydroxyvitamin D in vitamin D intoxication. J Clin Endocrinol Metab. 2015; 100:2883-2889.
SAT-LB92 Sex Hormones Therapy Differentially Modulates HDL Function in Transgender Individuals
Authors: Ruscica Massimiliano , Adorni Maria Pia , Zimetti Francesca , Greco Maria Francesca , Sirtori Cesare , Den Heijer Martin , van Valzen Daan M 
Published: May 2020

Abstract
Background/aim: The main proposed atheroprotective function of high-density lipoproteins (HDL) lays on their role to promote macrophage cholesterol efflux. An insightful way to learn more about the effects of sex hormones on HDL function is to study changes during hormone therapy. The present study was aimed at evaluating the effects of exogenous sex hormones administration on HDL cholesterol efflux capacity (CEC) within transgender individuals. CEC estimates the ability of HDL to remove cholesterol from cells, i.e. the initial step in reverse cholesterol transport.
Subjects/Methods: Transmen were treated with testosterone gel, a mix of testosterone esters once every three weeks) or testosterone undecanoate once every twelve weeks, whereas transwomen were treated with either oral estradiol valerate or a transdermal application of estradiol (patches). Cyproterone acetate was prescribed as a testosterone-blocking agent to all transwomen. HDL function was evaluated by a radioisotopic technique. Hormone levels, lipids and HDL function were evaluated after one year of follow-up.
Results: In transmen (n= 15), testosterone markedly increased (+ 97%; p &lt; 0.0001), whereas luteinizing hormone (LH) decreased significantly (- 64%; p = 0.049). Total cholesterol and low-density lipoprotein cholesterol (LDL-C) were not affected by testosterone treatment, whilst triglycerides (TG) were raised (+ 11.76%; p = 0.0078) and HDL-C reduced (- 19.6%, p=0.0103). Concerning HDL CEC, only the aqueous diffusion process was lowered (- 9.8%; p = 0.0032), an effect directly correlated with HDL-C changes (r = 0.6242, p = 0.0002). Total-, ATP-binding cassette transporter (ABCA1)-, and ABCG1-mediated CEC were not affected by testosterone treatment. In transwomen (n= 15), estradiol levels were raised (+200%, p=0.013) whereas LH and testosterone significantly reduced, i.e. - 97% for both. Relative to lipids, estradiol supplementation reduced total cholesterol (- 10.7%, p=0.0017), HDL-C (- 14.3%, p = 0.0024) and LDL-C (- 10.9%, p = 0.0058). Total HDL CEC decreased (- 11%, p=0.0001) with a specific decrement in CEC mediated by the ATP-binding cassette transporter (ABCA1) (-24%, p = 0.0003) and aqueous diffusion (-4.7%, p = 0.0014). This last was associated to a reduction in HDL-C (r = 0.4084, p = 0.0251). Conversely, the drop in ABCA1 and total CEC did not associate to reductions in HDL-C levels.
Conclusions: In transmen, testosterone supplementation was associated with a reduction in aqueous diffusion-mediated CEC, an effect potentially dependent to HDL-C changes. In transwomen, estrogen significantly decreased HDL function (CEC), independent of HDL-C levels changes.
SAT-LB64 Teriparatide and Its Bone Healing Power
Authors: Joseph Aneeta J , Penabad Jesus L , Pinero-Pilona Antonio 
Published: May 2020

Abstract
Introduction:
Teriparatide, a parathyroid hormone analog, is an important anabolic agent approved by the U.S. Food and Drug Administration to increase bone mineral density in osteoporotic patients. Parathyroid hormone (PTH) regulates calcium, phosphate, and active vitamin-D metabolites.The amino terminal peptide fragments of PTH has been known to increase bone mass and are being used in clinical practice for osteoporosis management (1).
Current literature shows the efficacy of teriparatide in increasing bone density of lumbar spine and femoral neck, and decreasing the risk of vertebral and non-vertebral fractures both in postmenopausal women and men. It is also known to prevent fractures in patients with osteoporosis and promote healing of fractures (2).
Case Description:
A 79-year-old Hispanic female with history of osteopenia and major lumbar spine wedge compression fractures presented to our clinic for consultation. She was on ibandronate for the past four months and was having symptoms of pill esophagitis. Her last bone mineral density done on August 2017 revealed T-score of -2.5 at the lumbar spine, -1.5 at the left femoral neck, and 3.3% bone loss on the left femoral head. Rather than being started on teriparatide, zoledronic acid, or denosumab, she continued ibandronate along with calcium and vitamin D. Two months after the initial consultation, she sustained a traumatic fracture of the posterior arch and body of C2 bilaterally following a motor vehicle accident. There were discussions about starting anabolic treatment, as serial imaging did not show any significant improvement in the healing process despite the use of a collar. Two months after sustaining C2 fracture, she was started on teriparatide. Repeat cervical spine x-ray three months later showed complete healing of the C2 fracture.
Discussion:
There are a limited number of cases reported in regards to teriparatide induced healing of non-osteoporotic fractures (3). Our case is one of the very few reported to have shown complete radiographic and clinical healing of a traumatic, non-osteoporotic fracture after use of teriparatide for 12 weeks.