bluuebunny/crossref_metadata_2025_split huggingface dataset:
FRI358 A Rare Cause Of SIADH: Leptomeningeal Deposits Metastatic From T-cell Proliferative Disorder
Authors: Bendaram Snigdha Reddy , Zielinski Rachel , Kantorovich Vitaly 
Published: October 2023

Abstract
Disclosure: S. Bendaram: None. R. Zielinski: None. V. Kantorovich: None.
Introduction: Atypical causes of SIADH, though rare, are important to identify and diagnose in order to optimize timely treatment. Case: Patient is a 51-year-old male with history of obesity and pre-diabetes who presented to the ED with symptoms of generalized weakness and severe fatigue with no antecedent events such as nausea, vomiting, diarrhea, fever or recent illness. He denied lightheadedness or a syncopal episode. History was significant for the use of prednisone for a skin rash in the recent past. Labs were significant for mild hyponatremia with sodium level of 130 mmol/L [136-141] with a low serum osmolality at 273 mOsm/kg and a urine osmolality of 287 mOsm/kg. Further evaluation revealed a low cortisol level of 1.9 ug/dL [6.2 - 19.4]. Repeat cortisol was also low at 1.1 ug/dl. Cosyntropin stimulation test resulted in insufficient response, and iatrogenic adrenal insufficiency was suspected due to prior steroid use. Steroid replacement therapy was initiated with Hydrocortisone. The patient’s ACTH was found to be inappropriately normal at 17pg/ml (6-50). For further evaluation, he underwent MRI Pituitary which revealed leptomeningeal lesions concerning for an infectious, inflammatory, or malignant metastatic process. At this time, he was still hyponatremic with sodium of 130 mmol/L and continued to complain of weakness and not feeling well overall, however denied any neurological symptoms. Repeat labs for hyponatremia showed serum osmolality of 283 mOsm/kg and urine osmolality of 573 mOsm/kg while urine sodium was 100 mmol/L, concerning for mild SIADH. This was managed with fluid restriction initially and then with addition of salt tablets. He underwent lumbar puncture with Cerebrospinal fluid analysis, which did not reveal an infectious etiology. A rheumatological work up for inflammatory cause was negative. Imaging of his chest and abdomen in a search for primary malignancy revealed soft tissue lesions in the abdominal subcutaneous fat. Biopsy of the soft tissue lesions were concerning for a T-cell lymphoproliferative disorder with the absence of typical histological features. Repeat biopsy, flow cytometry and cytogenetic studies were inconclusive, which was suspected to be secondary to the patient receiving steroids prior to the biopsy. Conclusion: This case represents SIADH likely caused by a T-cell lymphoproliferative disorder. Although the biopsies have been inclusive, if the patient has Non-Hodgkin’s T cell lymphoma (NHL), leptomeningeal spread is a known complication of this disorder. The underlying mechanism that we propose behind SIADH in our patient is the leptomeningeal lesion located near the hypothalamus enhancing ADH release.
Presentation: Friday, June 16, 2023
FRI364 A Case Of Carcinoid Syndrome Symptoms Masked By Niacin Use
Authors: Yang Sophia , Eldin Randa Sharag , Qualler Dennis Teves 
Published: October 2023

Abstract
Disclosure: S. Yang: None. R. Sharag Eldin: None. D. Teves Qualler: None.
Case Presentation: A 72 male presented with worsening of facial flushing and diarrhea for 10 years. The patient described episodic feeling of hotness in the face associated with red- purplish discoloration of his facial skin lasting for 2 to 3 minutes. He has had 5 to 6 episodes per day. The patient reported the use of Niacin in the past and it was believed that it was the cause of his flushing episodes despite its persistence for years after stopping it. The patient also suffered from long standing diarrhea which started around the same time of the flushing. Diarrhea has been watery or loose and he has 5 to 6 bowel movements a day.
His symptoms were concerning for Carcinoid syndrome and a 24-hour urine collection for HIAA showed elevated HIAA to 108.7 mg/24 hour (&lt;6 mg/24 hour). A CT scan of the abdomen revealed a 1.8 cm wall thickness in the cecum and a 3.6 cm spiculated mesenteric mass with central calcification with multiple hypervascular masses in the liver concerning for a metastatic neuroendocrine tumor. Core biopsy of one of the liver masses showed a well differentiated neuroendocrine tumor. He was also found to have tricuspid valve regurgitation as well as a Glycohemoglobin of 9%. The patient was treated medically with octreotide rather than surgery due to the significant disease burden. Interestingly, he was initially started on Lanreotide but developed foreign body granulomas at the injection sites. Discussion: Carcinoid-syndrome is a category of well-differentiated neuroendocrine neoplasms. The overproduction of serotonin is most used to assess the presence of carcinoid syndrome via its breakdown product 5- HIAA in the urine. Symptoms from niacin supplementation are variable and may include flushing and constipation. Patient’s flushing presented for years after discontinuing niacin supplementation. However, clinicians continued to attribute it to its use despite typical resolution of symptoms within 3 hours of discontinuing use. Niacin exposure may have been a mimicker of his underlying neuro endocrine neoplasia (NEN) as diarrhea is also an overlapping feature as seen in our patient’s presentation. DM as seen in our patient is not well documented in relation to carcinoid syndrome. One study (n=10) of the patients with functionally active NENs, 70% had borderline to diabetic-level blood glucose. Of the patients with carcinoid syndrome, there was no significant difference in fasting plasma glucose concentration or fasting plasma insulin concentration when compared to age-matched normal volunteers. Conclusion: Clinicians should have low level of suspicion in diagnosing carcinoid syndrome in the presence of typical symptoms of flushing and diarrhea. Due to the past use of niacin, our patient’s diagnosis was delayed despite the persistence of flushing years after stopping it.
Presentation: Friday, June 16, 2023
THU175 Incorrect Age Causing Falsely Short Stature In An Afghan Immigrant Girl
Authors: Ing Jordan , Marinkovic Maja 
Published: October 2023

Abstract
Disclosure: J. Ing: None. M. Marinkovic: None.
Background: Evaluation for short stature routinely includes screening for hormone deficiencies, chromosomal abnormalities, gastroenterological diseases, and inflammatory processes. “Incorrect age” resulting in falsely short stature, is not often considered in the differential diagnosis. Clinical Case: A young girl who recently immigrated to the United States from Afghanistan was referred for endocrine evaluation for short stature. At the time of her initial visit, she was listed in the electronic medical record at 10 years and 0 months old. Her medical history was significant for bowel injuries sustained three years prior in a bombing incident that required surgery and from which she completely recovered. Available growth charts from the preceding 6 months showed height and weight consistently less than the 1st percentile for her age but normal height velocity. On the exam she was prepubertal. Her measured height was 117.8 cm (0.06th percentile, Z = -3.24) and her body mass index (BMI) was 14.7 kg/m2 (12th percentile, Z = -1.18). The patient’s calculated mid-parental height was 155.5 cm (12.5th percentile, Z = -1.15). Laboratory work-up obtained by the pediatrician showed normal IGF-1, IGFBP-3, TSH, free and total thyroxine, tissue transglutaminase IgA, sedimentation rate, urinalysis, complete blood panel, complete metabolic panel, and a normal 20 cell count karyotype (46, XX). Her bone age was 5 years and 6 months and was interpreted as markedly delayed. Upon further history gathering using a Pashto interpreter, her father revealed there was an error in the processing of her immigration documents, resulting in being listed as three years older than her actual age. When corrected to that of a 7 year and 0 month old girl, her height improved to the 23rd percentile (Z = -0.73), and her BMI to the 31st percentile (Z = -0.5). Conclusion: This case demonstrates how children, through the immigration process, may have their age incorrectly documented and thereby are at risk for unnecessary and costly medical evaluation. It is possible that language barriers play a role in such errors. Therefore, it is important to verify the patient's true age, as parents may not think to provide this information voluntarily.
Presentation: Thursday, June 15, 2023
FRI600 Growth Attenuation Treatment In A Child With Cdkl5 Deficiency: The First Case In Our Institution
Authors: Cooper Felicia Ilyssa , Padron Marisse , Gurnurkar Shilpa 
Published: October 2023

Abstract
Disclosure: F.I. Cooper: None. M. Padron: None. S. Gurnurkar: None.
Introduction: Growth attenuation is an innovative therapy that may offer an improved quality of life for children who are non-ambulatory and have profound cognitive disability and allow for their families to provide more comfortable and longer-term care. In this case report, we describe growth attenuation treatment of a developmentally delayed 11-year-old male with estradiol to facilitate the family’s care of the patient. Case Presentation: A 11-year-old male with CDKL5 deficiency (consisting of developmental delay, aggression, and seizure disorder) presented for growth attenuation treatment due to parental concerns of tall projected final height (75 inches) posing future care challenges. His height was at the 97th% with Tanner stage II for testicular development and pubic hair. His bone age was consistent with chronological age predicting adult height of 75 inches. The hospital ethics committee was consulted and after discussion with genetics (the condition is expected to worsen with age), primary care and complex care, the committee concluded that growth attenuation treatment was in the best interest of the patient. Treatment with oral estradiol (2 mg/day titrated 2 mg weekly to a final dose of 10 mg daily) was started after normal baseline anti-coagulant factors. Estradiol was held 8 months after starting therapy due to declining protein C (68%, normal 70-180%) and protein S levels (46%, normal 70-150%). Hematology recommended adding low-dose aspirin (81 mg) while restarting estradiol therapy. Fifteen months after beginning estradiol, the bone age was at approximately 16 years (chronological age 13 years 6 months) and he grew approximately 6 inches to a final height of 68 inches. The estradiol is now being tapered off and the family feels more comfortable providing total care for the patient. Conclusion: We describe the first case of growth attenuation treatment in a 11-year-old child with profound intellectual disability and tall family genetics. Treatment decreased his final height from a projected 75 inches to 68 inches which aligned with the family’s goal and aims to decrease future challenges in care due to his size. This is not a standardized treatment and has faced controversy. For this reason, we recommend that treatment decisions be made on a case-by-case basis, in conjunction with the family and under the advice of an ethics committee. Our case also illustrates the need for a multidisciplinary approach in these patients.
Presentation: Friday, June 16, 2023
FRI394 Anti-inflammatory Protein Neuregulin-1 (NRG1) And ErbB3 Receptor In Human Antral Follicle And Endometrium
Authors: Chowdhury Indrajit , Banerjee Saswati , Rodriguez Alyssa 
Published: October 2023

Abstract
Disclosure: I. Chowdhury: None. S. Banerjee: None. A. Rodriguez: None.
Neuregulin 1 (NRG1) is a member of the EGF-like factor family and has recognized pro-survival and anti-inflammatory roles in neurodevelopmental and cardiac function, neurological and psychiatric disorders, cancer, and development. However, the physiological role of NRG1 in the human ovary and uterus has not been well documented. Therefore, we assessed the expression pattern of NRG1 and its receptor ErbB3 in normal human ovary and uterus tissue samples by immunohistochemistry (IHC). ErbB3 is one of the bona fide receptors for NRG1. NRG1 and ErbB3 were colocalized with steroidogenic acute regulatory protein (StAR) in normal human ovarian tissue samples, whereas NRG1 and ErBB3 were colocalized with CD105 (Endoglin) and epithelial cadherin (E-cadherin) in human uterine tissue samples. Our results showed strong immunoreactive signals of NRG1, ErbB3, and StAR in antral follicles, whereas weak or lack of immunoreactive signals in preantral follicles. The strong immunoreactive signals of NRG1 and ErbB3 were observed in granulosa cells and theca interstitial cells of antral follicles. In the uterus, a differential pattern of NRG1, ErbB3, CD105, and E-cadherin expressions were noticed. Interestingly, strong immunoreactive signals of NRG1, ErbB3, CD105, and E-cadherin in the luminal epithelium, and superficial and deep glands of endometrium were observed, whereas weak immunostaining in myometrium was noticed. These findings suggest that NRG1 and ErbB3 are important intracellular autocrine-paracrine anti-inflammatory factors that may govern antral follicular development and uterine implantation. Nothing to Disclose: SB; AR; IC. Sources of Research Support: This study was supported in part by National Institutes of Health Grants 1SC1 GM130544, G12-RR03034, and P50-HD28934. This investigation was conducted in a facility constructed with support from Research Facilities Improvement Grant #C06 RR18386 from NIH/NCRR.
Presentation: Friday, June 16, 2023
FRI397 An Unusual Case Of Galactorrhea- Think About Breast Implants !
Authors: Rimal Priya , Musurakis Clio , Gilden Janice L 
Published: October 2023

Abstract
Disclosure: P. rimal: None. C. Musurakis: None. J.L. Gilden: None.
Introduction: Elevation of prolactin (PRL) levels can occur due to physiologic or pathologic disorders of lactotroph cells. The most common causes for hypersecretion and resulting galactorrhea (GAL), a milky breast discharge, are pregnancy, breast feeding, hypothyroidism, chronic kidney disease, medications, chest wall trauma, or even stress. Although GAL is a rare complication after breast augmentation or reconstruction surgery, it can be bilateral, ipsilateral or contralateral, and is thought to be self-limiting. GAL can be cosmetically and psychologically distressing. The treatment depends on identifying the underlying cause, severity of symptoms, and can be medical, surgical, and might even necessitate breast implant removal. Clinical case: A 34-year-old Latina female G3P2 AB1 with prediabetes (BMI=22), history of gestational diabetes, and migraine headaches, was referred to the endocrine clinic for elevated PRL levels and 2 years of persistent GAL. Although originally regular, she had 3 months of menometrorrhagia following a COVID booster. She denied recent pregnancy, breast-feeding, breast masses, hirsutism, symptoms of thyroid disorders, chest wall trauma, infection, or symptoms of pituitary dysfunction. She was not taking medications associated with PRL elevation. Upon further evaluation, she reported frequently massaging the bilateral cosmetic breast implants to avoid formation of scar tissue. Lab evaluation showed initial PRL elevation of 35.8 ng/mL (nl=2.8-29.2); with normal LH=10.9 mIU/mL(nl 1.9-12.5) and FSH =4.9 mIU/mL(nl 2.5-10.2); estradiol=200.89 pg/mL(19.5-144.2); progesterone &lt;0.5 ng/mL(nl &lt;0.8);urine pregnancy test negative, HCG normal &lt;2.6 mIU/mL (nl 2.6-4.2) ; ACTH=14 pg/mL (nl 0-47); AM cortisol=13.33 mcg/dL; salivary cortisol=&lt;0.03 and 0.05 mcg/dL(nl 0.004-0.56); free testosterone=3.2 pg/mL(nl 0.1-6.4); SHBG =83.55 nmol/L(nl 17.69-138.26) total testosterone slightly elevated 50 ng/dL (nl 2-45); DHEAS=215 mcg/dL(nl 35-430); normal thyroid tests [(TSH 1.06 uIU/mL(0.550-4.780 ), free T4=1.05 ng/dL(0.76-1.46) Thyroid peroxidase antibody 28 U/mL(0-60)], Pelvic Ultrasound-benign right ovarian cyst and left ovary with subcm. follicles. Normal MRI of pituitary. Mammogram-dense breasts with bilateral implants. A Repeat PRL was 20.4 ng/mL with monomeric PRL normal at 8.6 (3.2-25.2 ng/mL), and later 13.70 ng/mL after stopping massaging of the breasts. The etiology of GAL was attributed to the breast implants with massaging, after excluding all other potential causes. Conclusion: Although other etiologies for galactorrhea should be considered, breast implants with manipulation must always be thought of as a possibility. This case highlights the importance of taking a thorough and complete medical history when evaluating all patients with galactorrhea.
Presentation: Friday, June 16, 2023
FRI399 Prevalence Of Polycystic Ovary Syndrome In Women With Type 1 Diabetes In Pregnancy
Authors: Dolatabadi Samin , Yamamoto Jennifer M , Benham Jamie L 
Published: October 2023

Abstract
Disclosure: S. Dolatabadi: None. J.M. Yamamoto: None. J.L. Benham: None.
Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder that is a risk factor for cardiometabolic disease such as impaired glucose tolerance, obesity, and hypertension. The prevalence of PCOS in the general population is estimated at 5-15% depending on the diagnostic criteria that is used. Although PCOS is commonly associated with type 2 diabetes (T2D), its association with type 1 diabetes (T1D) is less commonly investigated. The reported prevalence of PCOS in women with T1D is 24%. Furthermore, previous studies have found that women with either PCOS or T1D are at risk of preeclampsia, premature delivery, and neonatal complications such as congenital malformations and neonatal death. Unfortunately, there is a paucity of information regarding prevalence of PCOS in women with T1D in pregnancy as well as maternal and neonatal outcomes in this population. The objectives for this study were to 1) determine the prevalence of PCOS in pregnancies affected by T1D and 2) determine whether maternal and neonatal outcomes differed between women with T1D in pregnancy with or without a concomitant diagnosis of PCOS. A retrospective cohort study was performed of women affected by T1D in pregnancy that attended specialized Diabetes in Pregnancy clinics in Calgary, Alberta, Canada between 2008-2020. An individual was classified as having PCOS if there was a self-reported diagnosis of PCOS or if a patient met at least 2 of the 3 Rotterdam criteria based upon chart review. Logistic regression was planned to examine associations between maternal and neonatal outcomes. From 401 patients with T1D seen at Diabetes in Pregnancy Clinics, 14 (3.5%) patients had a self-reported diagnosis of PCOS. Given the low prevalence of PCOS in our patient population, the planned comparison of maternal and neonatal outcomes in patients with and without PCOS could not be completed. The prevalence of PCOS in women affected by T1D in pregnancy in this cohort was significantly lower than the reported prevalence of PCOS among women with T1D as well as the general population. Given that PCOS is associated with infertility and only women experiencing pregnancy were included in this study, exclusion of patients experiencing infertility could have affected the calculated prevalence. Overall, these results indicate that there is a lack of screening for PCOS in women affected by T1D during pregnancy. Given that both T1D and PCOS are associated with adverse maternal and neonatal outcomes, more education regarding this topic should be provided to healthcare professionals to ensure appropriate periconceptional and antepartum care of women with PCOS and pre-existing diabetes.
Presentation: Friday, June 16, 2023
OR19-04 Hypoglycosylated FSH Enhances Ovarian Follicle Development and Gamete Quality
Authors: Converse Aubrey , Rajendra Kumar T , Duncan Francesca E 
Published: October 2023

Abstract
Disclosure: A. Converse: None. T. Kumar: None. F.E. Duncan: None.
Gamete quality depends on the proper growth and maturation of the ovarian follicle, which consists of the oocyte and its supporting somatic cells. FSH is essential for follicle growth as female Fshb and Fshr null mice are infertile due to arrested follicle development. Macroheterogeneity in N-glycosylation on the FSHß-subunit confers differential bioactivities with hypoglycosylated FSH21 exhibiting higher FSHR binding affinity and bioactivity compared to fully glycosylated FSH24. In females, there is a shift from the highly bioactive FSH21 to FSH24 with increasing age which occurs coordinately with the age-dependent decline in female fertility. In this study, we used an encapsulated in vitro follicle growth assay to test the hypothesis that FSH glycoforms have differential abilities to promote follicle development and gamete quality. Early-stage (preantral) ovarian follicles were isolated from CD-1 mice, cultured in media containing 10 ng/ml of either FSH21 or FSH24 for up to 12 days, and then ex vivo ovulation was induced. While both glycoforms maintained &gt;75% follicle survival through day 12, follicles treated with FSH21 were significantly larger than FSH24-treated follicles between days 4 and 12 of culture. Over the 12 day culture, FSH21-treated follicles grew from 110.9 ± 9.2 µm to 251.3 ± 24.4 µm, while FSH24-treated follicles grew from 109.3 ± 7.1 µm to 229.7 ± 15.4 µm. This difference in growth correlated with a 13.4 and 4.5-fold increase in estradiol secretion by FSH21-treated follicles compared to FSH24 treatment on days 8 and 12, respectively. After ex vivo maturation, FSH21-treated follicles produced a higher proportion (76.9%) of meiotically competent gametes that reached the metaphase II (MII)-arrested state compared to FSH24-treated follicles (62.5%). Furthermore, normal meiotic spindle configuration was observed in 76% of MII eggs from the FSH21 cohort but only 50% of the FSH24 cohort. These results indicate that FSH21 is more bioactive than FSH24 in promoting follicle development and high-quality oocytes. Mechanistically, this is likely due in part to the differential effects of FSH21 and FSH24 on the formation of transzonal projections (TZPs), which are cytoplasmic filaments essential for granulosa-oocyte communication. By 24 hrs, FSH21-treated follicles had more TZPs than FSH24-treated follicles, as demonstrated by increased actin staining (1.6x) and Myo10 foci (5.1x) in the zona pellucida region. Thus, the early establishment of TZPs and increased somatic-oocyte communication in FSH21-treated follicles ultimately results in a more developmentally competent gamete. In addition, we anticipate that ongoing transcriptomic analysis of 24 hr FSH glycoform-treated follicles will highlight other processes involved in early follicle development that contribute to the observed differential effects on oocyte quality.
Presentation Date: Saturday, June 17, 2023