bluuebunny/crossref_metadata_2025_split huggingface dataset:
12506 Vagal Glp-1 Receptors Are Essential In The Efficacy Of Orally Administered Exendin-4
Authors: Bethea M M , da Silva Teixeira S , Cook T M , Hendrix J , Sandoval D 
Published: October 2024

Abstract
Disclosure: M.M. Bethea: None. S. da Silva Teixeira: None. T.M. Cook: None. J. Hendrix: None. D. Sandoval: None.
Oral formulations, such as the first and only FDA-approved oral GLP-1 analog (semaglutide), have the advantage of improving patient adherence and quality of life. Yet, how these oral GLP-1 receptor (GLP-1R) agonists mediate their glucose-lowering effects is unknown. Because systemic administration of GLP-1R analogs likely targets different GLP-1R populations than that of oral administration, it is imperative that we advance our understanding of the key GLP-1Rs needed for the metabolic benefits of orally administered GLP-1 therapies. We have preliminary data demonstrating that the oral administration of free Ex-4 significantly enhances glucose tolerance in fasted non-diabetic mice, strongly suggesting that oral Ex-4 is bioactive after transit through the GI system. Importantly, we have additional evidence that shows the oral administration of either Ex-4 or GLP-1 does not lead to detectable circulating levels of either peptide, suggesting that a local source is mediating this effect. Furthermore, using a GLP-1R Cre mouse crossed with a tdTomato reporter mouse, we see that the GLP-1R is expressed on epithelial cells within the intestine, yet oral Ex-4 administration in mice lacking GLP-1R in intestinal enterocytes elicited glycemic improvements. We hypothesized that neuronal GLP-1R populations within the gastrointestinal tract mediate the glycemic improvements of orally administered GLP-1 agonists. To test this hypothesis, we used various genetic mouse models lacking GLP-1Rs subjected to an oral gavage of Exendin-4, a GLP-1RA. We found that vagal GLP-1Rs are necessary for the glucose-lowering effects of orally administered Exendin-4. These findings will ultimately facilitate the development of more efficacious tailored compounds for the treatment of T2D and enhance our knowledge of GLP-1 biology.
Presentation: 6/1/2024
8656 A Case of Wolfram Syndrome Accompanied by Growth Hormone Deficiency
Authors: Jung Hyeon Jun , Kim Goo Lyeon , Park Yooyeon , Yu Jeesuk 
Published: October 2024

Abstract
Disclosure: H. Jung: None. G. Kim: None. Y. Park: None. J. Yu: None.
Background: This case report explores the presentation, diagnosis, and multidisciplinary management of an 11-year-old female patient with Wolfram syndrome, a rare and progressive genetic disorder. Wolfram syndrome is a rare genetic disorder characterized by early-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration. The prevalence of this syndrome is very low, affecting approximately 1 in 770,000 individuals. Prompt diagnosis is essential as early intervention and comprehensive management can improve the patient's quality of life and prognosis. Clinical Case: A female patient aged 9 years and 2 months was brought to our Pediatric Endocrinology Clinic because an elevated blood sugar level (520 mg/dL) was detected during a routine health checkup. She was born at 40 weeks, weighing 3kg, and had no remarkable perinatal history except for cleft lip. At the time of admission due to diabetes mellitus, the patient showed symptoms of developmental delay, language impairment, short stature, and strabismus. During follow-up over 1 year with management of diabetes mellitus, she showed persistent short stature and poor growth velocity. She underwent a growth hormone (GH) stimulation test, which confirmed GH deficiency. Further investigation found optic atrophy through ophthalmological examination and genetic investigation based on whole exome sequencing revealed a homozygous mutation in WFS1 (c.1475C&gt;T, p.Pro492Leu), suggesting Wolfram syndrome. Pure tone audiometry did not reveal specific abnormality but there were some limitations in the interpretation of the study result due to language and communication difficulties. She also showed nocturia, and in the absence of glycosuria, the urine specific gravity was less than 1.005, suggesting diabetes insipidus. She is currently receiving multidisciplinary treatment including pediatrics, otolaryngology, and ophthalmology. Conclusion: This case underscores the importance of increasing clinical awareness regarding Wolfram syndrome, as early intervention through timely diagnosis may lead to improved patient outcomes. This case also suggests that although GH deficiency is uncommon in Wolfram syndrome, growth assessment is important in patients with Wolfram syndrome in addition to managing diabetes mellitus and diabetes insipidus.
Presentation: 6/2/2024
7634 Delayed Diagnosis of Classical Congenital Adrenal Hyperplasia: Case Series and Literature Review
Authors: Jafar B , Kilberg M , Vogiatzi M G 
Published: October 2024

Abstract
Disclosure: B. Jafar: None. M. Kilberg: None. M.G. Vogiatzi: Other; Self; Consultant for Spruce, Crinetics and Eton. Research support from Neurocrine, Spruce and Adrenas.
Congenital adrenal hyperplasia affects (CAH) 1 in 15,000 newborns and is the most common adrenal insufficiency. Newborn screening (NBS) for CAH began with the development of a radioimmunoassay, measuring 17 α-hydroxyprogesterone (17OHP) using blood on microfilter paper. 17OHP screening due 21-hydroxylase deficiency is now part of the NBS in many countries. Although this has revolutionized CAH diagnosis for both simple virilizing (SV) and salt wasting (SW) CAH, NBS was developed to prevent salt wasting crises, especially in 46,XY CAH where neonates may be otherwise asymptomatic. Additional pitfalls to testing include improper sampling, steroid use perinatally and postnatally and a sex driven discrepancy. We present 7 cases of CAH who presented later in life, all with a normal NBS. Patient A presented as a 2-week-old 46,XX presenting with clitoromegaly. NBS 17OHP was 14.7ng/mL (normal &lt;30ng/mL), serum testing was concordant with 17OHP 221 ng/dL (normal 1-5-day infant = &lt;460ng/dL), and pelvic ultrasound showed a uterus. High dose ACTH stimulation testing was ultimately obtained at 7 months of life, showing adrenal insufficiency with a cortisol peak of 6 mcg/dL. 17OHP baseline was 6,632 ng/dL and peaked at 24,115 ng/dL.Patients B, C and D were 46,XY, presenting between ages 4-8 YO with advanced bone age (BA) and premature adrenarche. Their laboratory evaluations showcased elevated 17OHP, low peak in cortisol level.Patients E, F and G were 46,XY, presenting between ages 3-6 YO with central precocious puberty, and advanced BA. Their laboratory evaluations showcased elevated 17OHP, pubertal gonadotropins and low peak in cortisol level.All patients were initiated on hydrocortisone replacement given the diagnosis of SV CAH and associated adrenal insufficiency. 3 patients elected to pursue treatment for central precocious puberty. 2 patients were started on an aromatase inhibitor for advanced BA.Of the 7 cases we present, all were simple virilizing. While the goal of the NBS (preventing salt wasting crises) may have been satisfied, it is plausible that these patients may have been remained undiagnosed entirely due to reports of normal screening tests. These cases highlight the importance for providers to pursue the diagnosis of classical CAH in spite of normal screening - detecting CAH and initiating hydrocortisone therapy prior to adrenal crisis is imperative while the other noted impacts of growth and puberty deserve discussions of management options, education and counseling for future implications.
Presentation: 6/3/2024
8210 Reversible Proximal Myopathy Due to Severe Vitamin D Deficiency in a Child With Autism
Authors: Ozcan Ozan , Subedi Sonika , Velasquez Sara , Dave-Sharma Swati 
Published: October 2024

Abstract
Disclosure: O. Ozcan: None. S. Subedi: None. S. Velasquez: None. S. Dave-Sharma: None.
Introduction: Severe Vitamin D(Vit.D) deficiency can present dramatically and mimic other illnesses. Autism Spectrum Disorder(ASD) is one of the conditions that pose a risk for nutritional deficiency due to the severely restricted diet. Symptoms can be masked and unclear in a child with ASD due to limited verbal communication. Case Presentation: We report an African-American male with ASD, initially presented at 9 years of age with complaints of back pain after a fall and difficulty in walking.Diet history was significant for severely restricted to instant noodles and french fries.Evaluated by peds neurology, the exam showed Grover’s sign, mildly decreased DTRs, and downgoing plantar response. The upper extremity couldn’t be assessed because the patient was not cooperative. CBC, CRP, LFT, ESR, and CPK were sent for possible myopathy and inflammatory conditions. Lab values reported within normal limits other than CPK 462 U/L(reference range 20-200 U/L) and ALK P 1511 U/L(Reference range: 40-130 U/L). Peds neurology suspected progressive muscle disorder. X-rays, electromyography, and MRIs of the spine and hip were within normal limits. Referred to Genetics, basic genetic panels were within normal limits. The patient followed for two years without improvement with the concerns of limb-girdle muscular dystrophy. The patient later presented with persistent shoulder and neck pain to ED. Labs showed CK(elevated 510), LFT (ALK P 1700), BMP (Ca 5.3mg/dl reference range: 8.4 – 10.5mg/dl), Ionized Ca: 2.92 mg/dl (Ref range: 4.8-5.5 mg/dl). The endocrinologist was consulted, and further investigations included PTH 562.5 pg/ml (Ref range: 15-65 pg/ml), Phosphorus: 4.3 mg/dl (3-5 mg/dl), 25 OH Vit.D levels &lt; 4 ng/ml(reference range 30-80ng/ml). X-rays were significant for demineralization. The muscular dystrophy panel resulted negative. The patient was admitted to the inpatient unit and started on calcitriol, CaCO3, and ergocalciferol. After initial stabilization, the patient was discharged home. During the discharge, the patient was still demonstrating problems with walking. The patient was sent home on calcitriol 0.25mcg, CaCO3 tablets, and Ergocalciferol 50 000 units weekly , weekly physical therapy and follow-up by ped. endocrinlogist. As Vit.D levels improved, CPK decreased . With close follow-up, supplements, and physical therapy, myopathy entirely resolved in following 2 years. Conclusion: Vit. D deficiency is an uncommon cause of myopathy and should be in a differential diagnosis for myopathy as the condition is reversible and can be treated. Due to restrictive eating patterns and limited social interactions, patients with ASD are at increased risk for developing nutritional deficiencies. Physicians should maintain a high index of suspicion in patients with restrictive eating.
Presentation: 6/2/2024
7006 Transient Adrenal Suppression in Pediatric Patients following Propofol Infusion: A Case Report
Authors: Salama Mostafa , Nadim Aida 
Published: October 2024

Abstract
Disclosure: M. Salama: None. A.N. Lteif: None.
Introduction: Intravenous propofol is widely employed for procedural sedation, monitored anesthesia care, and induction of general anesthesia. It can be administered as a bolus or an infusion. While extensively used, reports in adults and animal studies suggest potential implications of propofol on adrenal steroidogenesis. In this study, we present findings detailing transient adrenal suppression in two pediatric patients following propofol infusion. Case: The first case involves a 5-year-old boy diagnosed with left cerebellar high-grade glioma, having undergone tumor resection and proton beam irradiation. Morning cortisol levels measured twice post-propofol sedation (20 mg bolus followed by infusion at a rate of 275 mcg/kg/min prior to radiation therapy were 3.1 and 1.2 mcg/dl (ref range: 2.4-15 mcg/dl), accompanied by an undetectable ACTH level. Subsequent non sedated cortisol testing done four days later revealed a robust reading of 24 mcg/dl, with an ACTH level of 46 pg/ml.The second case is a 4-year-old boy diagnosed with right cerebellar high-grade astrocytoma glioma, who underwent total resection two months before his initial cortisol assessment. Following proton beam irradiation and propofol sedation (20 mg bolus followed by propofol infusion at a rate of 300 mcg/kg/min) for therapy, his morning cortisol obtained 45 minutes after starting propofol infusion was low at 2 mcg/dL (ref range: 2.4-15 mcg/dl). A repeat cortisol test eight days later showed an increase to 5.6 mcg/dL. Notably, neither patient was on exogenous steroids or medications impacting the adrenal axis. Discussion: The transient decline in cortisol and ACTH observed in these cases gains significance as the patients were not on any medication known to potentially induce adrenal suppression. Additionally, the gliomas were not parasellar in location and radiation had just begun. These findings align with prior reports linking propofol administration with the suppression of the hypothalamic-pituitary-adrenal axis. The impact of propofol on adrenal function needs to be considered especially in pediatric patients undergoing procedures or treatments. Conclusion: Our cases shed light on the potential transient influence of propofol on adrenal function in pediatric patients. Further studies are warranted to comprehensively evaluate the effects of propofol injections and infusions on adrenal function in pediatric cohorts.
Presentation: 6/3/2024
8561 Association Of Alopecia And Hirsutism With Severity Of Depression In A Sample Of Hispanic Women With Polycystic Ovary Syndrome
Authors: Loyola Cristina Marie Casas , Rivera-Rodriguez Yanni Gabriel , Rodriguez Brenda Marin , Roque Torres Jose A , Gonzalez Rodriguez Loida A , Romaguera Josefina 
Published: October 2024

Abstract
Disclosure: C.M. Casas Loyola: None. Y.G. Rivera-Rodriguez: None. B. Marin Rodriguez: None. J.A. Roque Torres: None. L.A. Gonzalez Rodriguez: Research Investigator; Self; Lilly USA, LLC. J. Romaguera: None.
Purpose: Polycystic ovary syndrome (PCOS), a highly prevalent endocrine disorder in females has been associated with several chronic diseases. Females with PCOS have been found with a higher prevalence of mental disorders. Depression and its severity have been associated with the development and progression of cardiovascular disease. We aimed to assess depression severity and its association with PCOS related comorbidities such as alopecia and hirsutism. Methods: A cross sectional study of females aged 21-45 years was conducted in the endocrinology clinics at the RCM-Clinics. PCOS was diagnosed using the Rotterdam criteria, hirsutism was defined by modified Ferriman-Gallwey score (mFG ≥ 9), alopecia was defined using the Ludwig scale and Depression using the Patient Health Questionnaire (PHQ9). Severity of depression and presence of alopecia and hirsutism were compared among groups. Results: A total of 112 patients were included in this study (85 patients PCOS+ and 27 patients PCOS-). Mean age was 32 ± 6 years. Severity of depression in PCOS- patients was: 44% none to minimal, 30% mild and 27% moderate to severe. Severity of depression in PCOS+ patients was: 28% none to minimal, 35% mild and 36% moderate to severe. Participants with alopecia and PCOS+ had a greater percentage of moderate to severe depression (58%) compared to the control group without alopecia (30%) (p value&lt;0.05). No differences were observed between hirsutism and severity of depression among groups. Conclusion: Our study showed an association between alopecia and severity of depression in patients with PCOS+. The presence of hirsutism was not associated to severity of depression. Currently, there are more available treatments for hirsutism than for alopecia. For this reason, patients with hirsutism have more opportunities to manage their condition than patients with alopecia, which often require more invasive procedures. The presence of alopecia can be considered a risk factor for developing major depressive disorder in patients with PCOS. Treatment of PCOS-related abnormalities should be emphasized soon after diagnosis. Evaluation of mental health is imperative in our PCOS patients.
Presentation: 6/3/2024
7848 Characterization of vasomotor symptoms-like temperature changes in a mouse model of menopause
Authors: Torres Jimenez E , Silva M , Zdon S T , Navarro V M 
Published: October 2024

Abstract
Disclosure: E. Torres Jimenez: None. M. Silva: None. S.T. Zdon: None. V.M. Navarro: None.
Most menopausal women suffer vasomotor symptoms (VMS), also known as hot flashes(HFs), induced by the decline in estrogen levels towards the menopausal period. HFs aredescribed as a sudden-onset sensation of extreme warmth, cutaneous vasodilation, sweatingand cold-seeking behavior as part of an inappropriate heat dissipation response to a drop incore temperature. HFs vary in frequency, duration and severity, and can impair the quality oflife of the women affected. These variables change within the same individual throughout theday, indicating that HFs are under the control of yet unknown circadian and ultradian cues.Unfortunately, the field is lacking an experimental mouse model that recapitulates the onsetand progression of VMS during menopause to investigate the neuroendocrine mechanismscontrolling this phenomenon. Here, we used the mouse model of menopause based on theshort-term bilateral removal of the ovaries (ovariectomy, OVX). To monitor core- and skintemperatures (Tc and Tskin, respectively) in response to estrogen loss, we placed temperaturedata loggers (DST-nano probes) in the abdomen of 3-mo female C57BL/6 mice (n=5) for Tcrecordings, and in the ventral surface of the tail for Tskin recordings in the same mouse. Tcand Tskin were recorded simultaneously every 10 min to provide a complete sequence of HFs-like events in the transition from gonad intact (pre-menopause) to short-term OVX (menopause). We observed a continuous fluctuation in Tc and Tskin throughout the dark (ZT12– ZT0) and light (ZT0 – ZT12) phases. Basal, maximum, amplitude and mean temperaturewere monitored on each phase for all mice. Interestingly, temperature changes were observedduring the dark phase, with an increase in the heat loss index (HLI, indirect measurement oftail skin vasodilatation) during week 1 post-OVX. Additionally, during the first week post-OVX,maximum Tskin increased during both dark and light phases. Interestingly, mean Tc decreasedthroughout the two weeks post OVX, leading to a significant shortening of Tc amplitude (i.e.range) post OVX. This decrease in mean Tc in response to OVX was directly correlated withan increase in the mean and amplitude of Tskin (increased heat dissipation), thus replicatinga human VMS. These changes in Tc and Tskin were more evident during the dark phase.Overall, this study supports the use of OVX mice as a model of human VMS. This modelpresents an exacerbation of the temperature fluctuations (VMS) during the dark phase which,despite the species differences in dark/light activity, correlates with the worsening of VMS insome women at night. Finally, the increase in basal temperature during the first week postOVX, but not the second, suggests that the mouse window for menopause-like symptoms isrelatively short post-OVX and by the second week they may resemble a post-menopausalmodel where VMS are less severe.
Presentation: 6/2/2024
7701 Comparative Analysis of Dried Blood Spot and Serum ELISAs for AMH, FSH, and LH in Patients Seeking IVF Treatment
Authors: Kumar Tanya , Chauhan Rahul , Kalra Bhanu , Patel Amita S , Chauhan Subodhsingh , Kumar Ajay 
Published: October 2024

Abstract
Disclosure: T. Kumar: None. R. Chauhan: None. B. Kalra: None. A.S. Patel: None. S. Chauhan: None. A. Kumar: None.
Relevance: Dried Blood Spot (DBS) technology has not been widely implemented in the diagnostic industry due to its limitations in obtaining reliable, quantitative data from small blood samples. However, recent advancements in methods, i.e., sensitive antibodies, homogeneous and reproducible paper quality, and painless needles have renewed the interest in the DBS collection technique. Objective: The aim of the study is to validate the hormone measurements using DBS technology and compare the correlation matrix between AMH, LH, FSH, inhibin B, Antral Follicle Counts (AFC), age, and BMI in patients seeking infertility workup. Materials and Methods: Matched serum and DBS samples from thirty-nine patients between the ages of 18 and 45 years were collected on day 3 of the cycle. The subjects were visiting the clinic for initial fertility workup and subjects on medications for ovarian suppression were excluded. The samples were tested on Ansh Labs DBS AMH (AL-129), FSH (AL-187), and LH (AL-190), PCOCheck AMH (N-N terminus, AL-196), picoAMH (C-N terminus, AL-124-r), US Inhibin B (AL-195) ELISAs. Baseline AFC obtained via transvaginal ultrasound, BMI, and age were collected. Spearman’s correlations, and regression analysis using Passing and Bablok were calculated to examine the relationship between AFC, AMH, inhibin B, FSH LH, age, and BMI. Results: DBS samples were highly correlated to their matched serum specimens. The slope and Spearman’s rank correlation (rs) between matched serum and DBS specimens for AMH, FSH, and LH were 1.17x, 1.07x, 1.07x, and 0.98, 0.93, and 0.97, respectively. DBS AMH strongly correlated with AFC. The Spearman’s rank correlation (rs) between AFC and DBS AMH, DBS LH, and DBS FSH were 0.80, -0.11, and -0.31, respectively. A strong correlation was observed between age and AMH, LH and FSH. A weak correlation was observed between BMI and AMH, LH and FSH. The Spearman’s rank correlation (rs) between age and DBS AMH, LH, and FSH were -0.34, 0.28, and 0.25, respectively. DBS AMH, LH, and FSH correlation with BMI were -0.06, 0.05, and 0.09, respectively. Inhibin B had a strong correlation to age (rs -0.33), BMI (rs -0.67), AFC (rs 0.44), DBS AMH (rs 0.40), DBS FSH (rs -0.19), DBS LH (rs-0.11), respectively. AMH method comparison between N-N and N-C terminal ELISA using 39 serum samples yielded slopes of 0.85x and Spearman’s rank correlation of 0.97. Conclusions: DBS and serum measurements for AMH, LH, and FSH are very accurate and precise. They can be used interchangeably. The strong relationship between BMI and Inhibin B will require further investigation and may open new avenues in obesity and reproductive endocrinology.
Presentation: 6/1/2024