bluuebunny/crossref_metadata_2025_split huggingface dataset:
SUN-167 Treatment Considerations for a Healthy Pregnancy in Women with Classical Congenital Adrenal Hyperplasia (CAH)
Authors: Calzia Megan , Tasnim Shams , Munir Iqbal , Firek Anthony Francis 
Published: May 2020

Abstract
Background:
CAH is caused by an enzyme deficiency involved in cortisol synthesis leading to an increase in ACTH. Increased ACTH causes elevated levels of steroid hormone precursors & chronic stimulation of the adrenal glands resulting in hyperplasia. The most common form of CAH is due to 21OH deficiency (21OHD) with the classic, salt-wasting form causing glucocorticoid & mineralocorticoid deficiency & androgen excess.
Poorly controlled CAH causes increased production of androgens & progesterone & decreased fertility. Fertility in woman with 21OHD can be challenging due to decreased sexual interest & anatomical abnormalities. Despite these challenges, the pregnancy rate is not significantly lower in women with well controlled 21OHD. However, as these patients are uncommon recommendations for pregnancy can be challenging for endocrinologists.
Clinical Case:
A 27-year old G0P0 female with classic, salt losing CAH presented to discuss pregnancy. Her medications were hydrocortisone 10mg qAM & 5mg qHS & fludrocortisone 0.1mg daily. She denied symptoms of dehydration, nausea, vomiting, dizziness, or fatigue.
She was diagnosed with CAH while in-utero & started on steroid therapy after birth. She did not require any surgical genital reconstruction. Menarche occurred at age 11 and she had regular menses every 35-40 days, with no evidence of excessive androgen exposure including excess body hair, deepening of her voice, or cliteromegaly.
On physical exam she was normotensive & had no evidence of virilization or cushingoid features. She exhibited minor darkening of the palmar creases. Her labs were significant for free testosterone of 9.1 pg/ml (0.2-5.0 pg/ml), total testosterone of 115 ng/dl (2-45 ng/dl), ACTH of 780 pg/ml (6-50 pg/ml), androstenedione of 636 ng/dl (41-262 ng/dl), & 17 OHP of 1560 ng/dl (15-290 ng/dl).
Her hydrocortisone dose was increased to 20 mg qAM & 10 mg qHS & fludrocortisone 0.1mg daily was continued. Our objectives were to normalize the androgen level & suppress serum progesterone to less than 2 nmol/L. If the objectives were not reached she would be converted to prednisone BID.
Conclusion:
Endocrine providers are the primary resource for fertility recommendations for 21OHD patients & must understand the challenges in this very rare group of patients. Collaboration with the perinatologist is crucial for success.
The goals of preconception endocrine assessment in a patient with classic CAH are to adjust hormone therapy to ensure optimal endocrine milieu for conception & risk assessment of having a child affected with 21OHD. The patient will need a higher dose of fludrocortisone during the later part of pregnancy. Counseling that stress doses of glucocorticoids for intercurrent illness and during labor and delivery are required for both the patient and the obstetrician.
SUN-600 Presence of LMNA p.R582H Pathogenic Variant in Homozygous State Demonstrates Gene Dosage Effect on the Severity of Fat Loss in Lipodystrophy
Authors: Soyaltin Utku Erdem , Simsir Ilgin Yildirim , Akinci Baris , Altay Canan , Adiyaman Suleyman Cem , Oral Elif A 
Published: May 2020

Abstract
Background Classical heterozygous pathogenic variants of the lamin A/C (LMNA) gene cause familial partial lipodystrophy type 2 (FPLD2). However, recent reports indicate phenotypic heterogeneity among carriers of LMNA pathogenic variants, and a few patients have been associated with generalized fat loss. Clinical Case Here, we report a patient with lamin A specific pathogenic variant at exon 11 LMNA p.R582H present in homozygous state. Fat distribution was compared radiographically to a heterozygote LMNA p.R582H patient from another pedigree, female healthy control, a series of adult female subjects with congenital generalized lipodystrophy type 1 (CGL1, n = 9) and typical FPLD2 (n = 8). The whole body MRI of the index case confirmed near-total loss of subcutaneous adipose tissue with well-preserved fat in the retroorbital area, palms and soles, mons pubis, and external genital region. This pattern resembled the fat loss pattern observed in CGL1 with only one difference: strikingly more fat was observed around mons pubis and the genital region. Also, homozygous p.R582H LMNA variant was associated with lower leptin level and earlier onset of metabolic abnormalities compared to heterozygous p.R582H variant and typical FPLD2 cases. On the other hand, heterozygous LMNA p.R582H variant was associated with partial fat loss which was similar to typical FPLD2 but less severe than the patients with the hot-spot variants at position 482. Conclusions Our observations and radiological comparisons demonstrate a gene dosage effect of LMNA variants on the severity of fat loss and add to the body of evidence that there may be complex genotype-phenotype relationships in this interesting disease known as FPLD2. Although the pathological basis for fat loss is not well understood in patients harboring pathogenic variants in the LMNA gene, our observation suggests that genetic factors modulate the extent of fat loss in LMNA associated lipodystrophy.
MON-518 Institutional Experience with Cytologically Indeterminate Thyroid Nodules: No Molecular Testing Versus Afirma Gene Expression Classifier or Genomic Sequencing Classifier
Authors: Polavarapu Preethi , Fingeret Abbey , Yuil-Valdes Ana , Patel Anery , Goldner Whitney 
Published: May 2020

Abstract
Background: Molecular analysis of indeterminate thyroid nodules has been shown to reduce unnecessary surgeries for benign thyroid nodules. Afirma Gene Expression Classifier (GEC) has a reported benign call rate (BCR) of 38-61%, and the newer generation Genomic Sequencing Classifier (GSC) has a reported BCR of 42-76%. Both GEC and GSC have a high sensitivity of 88-100% and negative predictive value (NPV) of 94-100%. Specificity and positive predictive value (PPV) have improved with GSC when compared to GEC, largely due to improvements in the classification of hurtle cell neoplasms. GSC PPV is reported as 47-76%. The aim of our study was to determine surgical and malignancy rates for patients at our institution with GEC, GSC, or for those who did not undergo molecular testing.
Methods: Retrospective analysis of all Bethesda III and IV nodules with available follow up data at our institution between January 2013 and December 2018. We evaluated cytopathology, molecular testing with Afirma GEC or GSC, surgical rate, and malignancy rate between groups. Univariate descriptive statistics and bivariate analyses were calculated using Chi-squared and Fisher’s exact testing for categorical variables and one-way analysis of variance for continuous variables.
Results: A total of 376 patients had Bethesda III and IV indeterminate thyroid nodule biopsies and met inclusion criteria for analysis. Of these, 262 patients did not undergo molecular testing, 50 underwent GEC, and 64 GSC testing. There was no difference between the groups for gender, age, or BMI. The overall surgical rate was 66.4, 60.0, and 46.9%, respectively (p=0.014). There was no difference in BCR for GEC or GSC with 44.0% versus 54.7% (p=0.38). There was no difference in malignancy rate with no molecular testing 19.5%, 22.7% if GEC suspicious, and 29.2% if GSC suspicious (p=0.619). GEC had a PPV of 22.7%, NPV of 100%, sensitivity of 100%, and specificity of 56.4% compared with GSC with PPV of 29.2%, NPV of 100%, the sensitivity of 100%, and specificity of 67.3%. Our overall rate of incidentally noted malignancy for indeterminate thyroid nodules who ultimately underwent surgery was 23 of 234 (9.9%).
Conclusions: At our institution, the surgical rate was not different between patients who did not have molecular testing and those with GEC, however, there was a significant reduction in overall surgeries when using GSC. GSC BCR improved when compared to GEC, consistent with previous studies, but PPV remained low at 29.2%, which is lower than previously reported.
SAT-189 Pheochromocytoma as a Rare Cause of Elevated Blood Pressure During Pregnancy
Authors: Alquadan Hammam F , Stefanovic-Racic Maja 
Published: May 2020

Abstract
Endocrine causes of elevated blood pressure during pregnancy are considered a rare, mainly when compared to the more frequent pregnancy-related hypertensive disorders. Thus, the diagnosis of endocrine-related secondary hypertension cases and the outcome of pregnancy will largely depend upon a high clinical suspicion.
A 28 year-old female, presented in pregnancy with elevated, difficult to control blood pressure, leading to induced delivery of a preterm 32 week baby. The baby was admitted to the NICU, where she stayed for 3 weeks.
After delivery, Patient was evaluated in the Endocrine Clinic. She reported episodes of pulsatile headaches, palpitations and excessive sweating for the past 1 year. Each episode would last around 10 minutes and resolved spontaneously. Systolic blood pressure during these episodes was in the 200s and would return back to normal afterwards.
Past medical, surgical and social history was unremarkable. She reported that her mother died suddenly in her 30s from an unknown cause. Physical exam, including blood pressure, was unremarkable in the clinic.
The patient underwent a work up for secondary causes of hypertension after delivery. Tests included plasma metanephrines: 327pg/ml (&lt;57pg/ml), plasma normetanephrines: 7,135pg/ml (&lt;148pg/ml), Chromogranin A 768 ng/ml (&lt;93ng/ml) and a 24 Hour fractionated total metanephrines: 10,170 mcg/24hrs (40-412mcg/24h). She had normal TSH, aldosterone, renin and AM cortisol level.
CT scan of chest, abdomen and pelvis showed a large right retroperitoneal, heterogeneously enhancing mass, measuring 5.8 x 3.7 x 8.3 cm, which encircles the aorta approximately 180 degrees, without evidence of vascular invasion.
Diltiazem three times a day was initiated for preoperative blood pressure control. After 2 weeks, she underwent laparoscopic resection. Pathology showed lesional cells that are positive for synaptophysin and chromogranin while negative for AE1/3 and sustentacular cells that are highlighted by S100, thus supporting a diagnosis of paragangliomas.
Postoperatively, the patient was weaned off all blood pressure medications. Repeat testing showed plasma metanephrines: 26 pg/ml and plasma normetanephrines: 164 pg/ml. The patient is scheduled to establish care with Endocrine Genetics Clinic.
A timely diagnosis of pheochromocytoma during pregnancy can dramatically affect maternal and fetal mortality rates (1). This case illustrates the importance of a high clinical suspicion for pheochromocytoma as a cause of elevated blood pressure during pregnancy, particularly in patients who lack other characteristics typical of pregnancy related hypertension disorders (proteinuria, edema, etc.) or present with an elevated blood pressure early in pregnancy.
References: (1) Van der Weerd et al., Pheochromocytoma in pregnancy: case series and review of literature. European Journal of Endocrinology (2017) 177, R49–R58
SUN-381 Cortical Porosity Is Associated with Peripheral Small Vessel Disease in Adult Patients with Type 2 Diabetes
Authors: Samakkarnthai Parinya , Sfeir Jad G , Wennberg Paul W , Dyck Peter J , Achenbach Sara J , Atkinson Elizabeth J , Tweed Amanda J , Volkman Tammie L , Drake Matthew T , Farr Joshua N , Khosla Sundeep 
Published: May 2020

Abstract
Patients with Type 2 Diabetes (T2D) are at higher fracture risk despite having relatively normal or even increased BMD by DXA. Increased cortical porosity has emerged as a potential factor contributing to fragility fractures in T2D. However, there is conflicting evidence whether T2D patients have increased cortical porosity. We hypothesized that microvascular complications have an important role in cortical porosity. Thus, we performed high-resolution peripheral quantitative computed tomography imaging at the distal radius and tibia to evaluate bone microarchitecture in men with T2DM age ≥ 50 yrs or postmenopausal women with T2DM and nondiabetic controls. Comprehensive diabetic complications were assessed in all patients including urine microalbuminuria, retinopathy, neuropathy (touch, temperature, and vibration sensation), ankle brachial index (ABI) and transcutaneous oxygen tension (TcPO2). Percent differences between groups were obtained from linear regression models adjusting for age, BMI, and sex. Relationships between variables were assessed using adjusted Spearman correlations. A total of 164 T2D patients (mean age 68.9 ±7.8 yrs.; 56.7% men; HbA1C=7.7 ±0.9%; mean diabetes duration 15.2 yrs.) and 107 nondiabetic controls (mean age 67.3±8.8 yrs.; 42.1% men; HbA1C =5.4 ±0.3%) were recruited to the study. Overall, there was a trend for increased cortical porosity at the distal tibia in the T2D group (+12.2%; p=0.063) compared with nondiabetic controls. Of note, TcPO2 was negatively correlated with cortical porosity at the distal radius (r= -0.17; p= 0.039) and distal tibia (r= -0.15; p= 0.073). In particular, the Low TcPO2 (≤40 mmHg) group (n=29) had greater cortical porosity at the distal tibia (+19.6 %; p=0.037) compared with the High TcPO2 (&gt;40 mmHg) group (n=133). In addition, the low TcPO2 group had a significant increase in cortical porosity in the distal tibia (+24.8% p=0.020) compared with nondiabetic controls. In conclusion, this is the first evidence in humans indicating that TcPO2, a measure of microvascular blood flow, is linked to cortical porosity in the distal radius and tibia in T2D patients. Our findings may explain the conflicting findings regarding cortical porosity in T2D because only T2D patients with impaired microvascular blood flow have increased cortical porosity. Collectively, our data indicate that cortical porosity is a microvascular complication of longstanding T2D.
SAT-483 Levothyroxine Absorption Test: A Potential Therapeutic Tool for Levothyroxine Malabsorption
Authors: Arora Tanureet , Chua Lorayne Ann , Ismail-Beigi Faramarz , Singh Tanveer 
Published: May 2020

Abstract
INTRODUCTION
Persistent hypothyroidism (PH) even on high doses of levothyroxine is a common clinical problem and it is difficult to treat. Levothyroxine absorption test has been used to distinguish between pseudo-malabsorption and malabsorption as one of its causes. This test uses 1000 mcg of levothyroxine to calculate the percentage of levothyroxine absorbed. We present a case of malabsorption in which we used the levothyroxine absorption test to diagnose as well as treat malabsorption.
Case:
55-year-old male with history of papillary thyroid cancer status post total thyroidectomy, postsurgical hypothyroidism, recurrent small bowel obstruction, status post jejunal resection, complicated by high output entero-cutaneous fistula, distal high-grade obstruction status post placement of jejunal tube, chronic abdominal pain on narcotics, who initially presented with sepsis and was also found to be hypothyroid.
The thyroid stimulating hormone (TSH) level was 45.25 with free thyroxine (FT4) level of 0.54. He was adherent to his levothyroxine (LT4) 175 mcg once daily which is given one hour after tube feeds have been stopped or one hour prior to any administration of other medications.
Levothyroxine absorption test was done to distinguish between malabsorption versus pseudo-malabsorption. Three different doses of LT4 were used with results all consistent with malabsorption. The percentage of absorption with 175 mcg, 500 mcg, and 1000 mcg LT4 were 3.4%, 7.2%, and 18% respectively. The formula used to determine the percentage of absorption was (total T4 at 2 hour after LT4 administration - baseline total T4 prior to administration in mcg/L) x plasma volume in liter/dose of administered LT4 in mcg. The final prescription dose of 700 mcg once daily was then derived from the available data, which eventually corrected the patient’s hypothyroidism. Repeat testing after 2 weeks showed TSH of 0.17, FT4 of 1.29 and total T4 of 6.5. The suppressed TSH at this point was attributed to chronic narcotic use but FT4 and total T4 improved appropriately.
Conclusion:
There is no gold standard protocol for levothyroxine absorption test so we used a different protocol for LT4 dosing compared to the conventional regimen (1000 mcg of LT4). Our patient did show appropriate levothyroxine absorption on the calculated dose. Hence, the Levothyroxine absorption test may be used both as a diagnostic as well as a therapeutic tool for the patients with LT4 malabsorption causing PH.
References:
G.E. Sun, K.M. Pantalone, C. Faiman, M. Gupta, L. Olansky, B. Hatipoglu, The clinical utility of free thyroxine in oral levothyroxine absorption testing. Endocr. Pract. 20(9), 925–929 (2014)
SAT-199 Diagnostic Dilemma: An Adrenal Incidentaloma in a Young Adult
Authors: Sharma Sonia , Levine Steven N , Gu Xin 
Published: May 2020

Abstract
Introduction:
In an adult endocrine clinic, the majority of patients referred for evaluation of an adrenal incidentaloma are older than 30 years of age. It is important to be reminded that a patient may be diagnosed with an adrenal mass at any age but the etiology may vary depending on the age at presentation.
Clinical case:
An 18 year-old African American female with no significant past medical problems presented with a 2 month history of flank and abdominal pain associated with nausea and vomiting. An abdominal CT scan and a dedicated adrenal CT showed a right adrenal mass measuring 2.2 x 2.6 cm. The noncontrast Hounsfield units were 23, enhanced Hounsfield units 210, and delayed Hounsfield units 72. The calculated washout was 44%, not consistent with an adrenal adenoma. An MRI of the abdomen showed a 2.5 cm right adrenal nodule. The lesion did not demonstrate significant loss of signal between in and out of phase imaging, therefore the characteristics were not consistent with a lipid rich adenoma. Laboratory tests included an ACTH of 31 pg/mL (6-48 pg/mL), cortisol 8.7 ug/mL at 10:57 am (7-9 am 5.27-22.45 ug/mL), aldosterone 10.1 ng/dL (6-48 ng/dL), renin 2.2 ng/mL/hr (upright 0.5-4.0 ng/mL/hr), DHEA-sulfate 129 ug/dL (44-248 ug/dL), plasma free metanephrine 0.10 nmol/L (0.00-0.49 nmol/L), and plasma free normetaneprhine 0.41 nmol/L (0.00-0.89 nmol/L). The 24-hour urine norepinephrine, epinephrine, and metanephrine were all normal, however the 24-hour urine dopamine was elevated, 824 ug/24 hrs (52-480 ug/24 hrs). Subsequently, plasma dopamine, norepinephrine, and epinephrine were all within the reference range. The patient had a robotic-assisted right adrenalectomy removing a 5.7 x 3.5 x 1.7 cm gland, weighing 16.3 grams. The pathology demonstrated a ganglioneuroma within the right adrenal gland measuring 2.2 x 2.0 x 2.7 cm, negative for neuroblastoma or blastic components. Focal hemorrhage was noted, there was no tumor necrosis, and no mitotic figures were present. The tumor appeared to be encapsulated in the adrenal gland and the Ki-67 stain was negative in ganglioneuroma cells.
Conclusion:
Adrenal adenomas that appear as incidentalomas in young adulthood are extremely rare. Evaluating younger versus older adults found to harbor an adrenal “incidentaloma“ requires a unique approach for each age group, as the differential diagnosis varies widely. In our patient, the imaging was extremely concerning and diagnostic considerations included neuroblastoma, adrenocortical malignancy, pheochromocytoma, or ganglioneuroma. Adrenal ganglioneuromas are most frequently diagnosed in fourth and fifth decades of life. In younger adults ganglioneuromas are usually found in the retroperitoneum and posterior mediastinum. For our patient, surgical resection of the adrenal mass confirmed the pathologic diagnosis and provided definitive cure.
SAT-498 Graves’-Associated Takotsubo Cardiomyopathy: An Uncommon Condition
Authors: Mortensen Michael , Bryer-Ash Michael , Vinales Karyne Lima , Correa Ricardo Rafael 
Published: May 2020

Abstract
Introduction Graves’ disease is an autoimmune disorder that causes excess thyroid hormone (T4 and T3). T4 is converted into T3 (active hormone) in the peripheral tissues by the deiodinase enzyme. T3 has an effect on the cardiac electrical system as well as myocyte contractility. Excess T3 can result in cardiac arrythmias as well as ventricular dysfunction (heart failure). Takotsubo cardiomyopathy is a subtype of nonischemic cardiomyopathy related to severe physiologic or mental stress. Excess catecholamine levels have been reported to cause this disease as well. Takotsubo cardiomyopathy has rarely been reported in Graves’-associated thyrotoxicosis.
Case report 55-year-old female who presented to the ED with palpitations and difficulty breathing. She had been seen by her PCP within the past two weeks with complaint of recent 30 lb weight. TSH was noted to be &lt; 0.001 and a neck ultrasound revealed a diffusely enlarged, hypervascular thyroid. She was referred for outpatient endocrinology consultation for further workup. Prior to her initial endocrinology appointment, she developed palpitations and shortness of breath. She did not have any known family history of thyroid disease or other autoimmune conditions. She drinks 1-2 glasses of wine per week and quit smoking in 2017. Physical exam on admission revealed a heart rate of 133 bpm and a blood pressure of 145/93, normal temperature, and normal respirations. Thyroid was diffusely enlarged and without nodularity. No evidence of orbitopathy. Heart was tachycardic but without murmur. Lungs clear. Abdomen soft, nontender. No significant peripheral edema or pretibial rash. No neurological dysfunction. Labs revealed TSH &lt; 0.001, Free T4 &gt; 7.77, Free T3 12.0, TRAb 44.4%, TSI 433%, Anti-TPO 614, high-sensitivity troponin of 112. EKG showed nonspecific infero-lateral T wave changes, rate 123. Echocardiogram demonstrated left ventricular apical hypokinesis but preserved basilar contractility. Ejection fraction was estimated at 40-45%. Nuclear stress test did not reveal any indication of myocardial hypoperfusion.
Discussion/Conclusion Takotsubo cardiomyopathy can mimic acute myocardial infarction both clinically as well as on EKG/serum biomarkers. Troponin levels are typically elevated as a result of myocardial stretch and subsequent troponin “leak”. Echocardiogram demonstrates apical ballooning of the left ventricle, and by definition coronary arteries will be free of significant occlusive disease. A small number of cases have been reported in association with endocrine conditions including thyrotoxicosis due to Graves’ disease. The majority of cases associated with thyrotoxicosis will resolve spontaneously with 1-3 weeks. Treatment consists of medication to decrease cardiac preload as well as afterload (ACE inhibitor, beta blocker, diuresis as needed), similar to medical treatment of other nonischemic cardiomyopathies.