bluuebunny/crossref_metadata_2025_split huggingface dataset:
8137 Prevalence Of Overweight And Obesity In Dominican Children With Congenital Heart Disease
Authors: Rojas Rodríguez L D , Mateo Pérez M J , López Sención L C , San Martin V T , Grullón A 
Published: October 2024

Abstract
Disclosure: L.D. Rojas Rodríguez: None. M.J. Mateo Pérez: None. L.C. López Sención: None. V.T. San Martin: None. A. Grullón: None.
Background: Overweight and obesity can be detrimental to the health of children with congenital heart disease, potentially leading to or contributing to other chronic medical conditions such as hypertension. This, in turn, may increase the cardiovascular demands of these patients whose lives are already affected by a defective heart anatomy. Objective: To determine the prevalence of overweight and obesity in Dominican children with congenital heart disease. Methods: An observational cross-sectional study was conducted to determine the prevalence of overweight and obesity in children with congenital heart disease attending the Pediatric Cardiology Department at Children's Hospital (Santo Domingo, Dominican Republic), from July to December 2022. The study population was classified into categories of underweight, normal weight, overweight or obesity using the CDC Body Mass Index-for-age growth chart (2022), based on their age, weight, height, and sex. The parents of the patients were interviewed to gather information about their children’s medical history, as well as their diet type and level of physical activity. Diet type was assessed through a questionnaire about daily meals; diets in which processed foods and simple carbohydrates were predominant were categorized as unhealthy, while those with a predominance of proteins and complex carbohydrates were categorized as healthy. Physical activity levels were measured using the Assessment of Physical Activity Level Questionnaire (APALQ). Additionally, blood pressure values were categorized as normal or elevated/high based on the American Academy of Pediatrics Clinical Practice Guidelines for Screening and Management of High Blood Pressure in Children and Adolescents (2017). Results: A total of 84 patients with congenital heart disease were analyzed, with 11.9% (10/84) categorized as having overweight and 23.8% (20/84) categorized as having obesity. Among patients with overweight or obesity, unhealthy eating habits predominated in 66.7% (20/30), while a sedentary level of physical activity was reported in 56.7% (17/30). Additionally, among patients with overweight or obesity, 36.7% (11/30) had elevated/high blood pressure. Conclusion: About one-third of Dominican patients with congenital heart disease were found to have overweight or obesity. Additionally, about one-third of those with excess weight were found to have elevated/high blood pressure. These findings stress the need for urgent implementation of personalized interventions and educational programs focused on fostering healthier lifestyles. The ultimate goal is to reduce cardiovascular risks and improve the overall well-being of children living with congenital heart disease.
Presentation: 6/1/2024
8689 Salivary cortisol and cortisone levels in obese and non-obese Korean children
Authors: Jung M , Kim M , Choi Y , Yoo H W , Lee S , Yoo E G 
Published: October 2024

Abstract
Disclosure: M. Jung: None. M. Kim: None. Y. Choi: None. H. Yoo: None. S. Lee: None. E. Yoo: None.
Purpose: Measurement of salivary cortisol is non-invasive and the level correlates well with that of free cortisol, but data in children are insufficient. We measured salivary cortisol and cortisone levels in obese children and compared with those in non-obese healthy children. Methods: A Total of 84 (45 obese and 39 non-obese) children aged 6 to 12 years were recruited. Children with acute or chronic illness were excluded. Salivary samples were analyzed for cortisol and cortisone using liquid chromatography-tandem mass spectrometry. Serum cortisol levels were measured only in obese children. Results: There was no significant difference in salivary cortisol and cortisone levels between the non-obese and obese children. There was no gender difference in salivary cortisol and cortisone levels. Salivary cortisol correlated to serum cortisol levels in obese children (ρ = 0.428, P = 0.007). Salivary cortisone levels were related with salivary cortisol (ρ = 0.537, P &lt;0.001), and inversely with sampling time range (ρ = -0.282, P= 0.009). There was no significant correlations between salivary cortisol or cortisone values and age or body mass index. Conclusions: There was no significant difference in salivary cortisol and cortisone levels between non-obese and obese children. Salivary cortisol correlated well with serum cortisol in obese children.
Presentation: 6/1/2024
8683 Composite Pheochromocytoma/Paraganglioma-Ganglioneuroma: Biochemical And Radiological Features
Authors: Agarwal Shubham , Dackiw Alan P B , Nwariaku Fiemu , Esteban Mosquera Jorge , Jia Liwei , Grace Roden Mary , Hamidi Oksana 
Published: October 2024

Abstract
Disclosure: S. Agarwal: None. A.P. Dackiw: None. F. Nwariaku: None. J.E. Mosquera: None. L. Jia: None. M.G. Roden: None. O. Hamidi: Advisory Board Member; Self; Corcept Therapeutics.
Introduction: Composite pheochromocytoma/paraganglioma with ganglioneuroma (PHEO-GN or PGL-GN) is a rare tumor consisting of chromaffin cells or ganglia tissue combined with a developmentally related neurogenic tumor. Composite tumors can be present in up to 10% of PHEO and are rare with just over 100 cases reported in published literature. We present a case series of patients with PHEO-GN and PGL-GN seen at our tertiary care center to examine their natural history, clinical, radiological, and biochemical characteristics. Methods: We conducted a retrospective longitudinal follow-up study of consecutive adult patients with histologically-proven PHEO-GN and PGL-GN seen between 2013 and 2023. We collected and summarized data on demographics, laboratory findings, radiological results, and clinical outcomes. Results: The cohort comprised 10 patients (60% women): 8 with PHEO-GN (1 diagnosed on autopsy), 1 with PGL-GN, and 1 with PHEO-ganglioneuroblastoma. The median age at diagnosis was 47 years (interquartile range [IQR], 35-60). Most (80%) tumors were discovered incidentally. The prevalence of a genetic syndrome was 40% and included multiple endocrine neoplasia (MEN) 2A, MEN 4, Neurofibromatosis 1, and hereditary PHEO-PGL syndrome due to succinate dehydrogenase type B gene mutation. Nine patients (90%) had biochemically functional tumors with adrenergic biochemical phenotype in 89% and noradrenergic in 11%. The tumor associated with MEN 4 also had dopamine secretion. The median elevation above the upper normal limit of plasma metanephrine was 7.4 (IQR, 1.6-12), 24-hour urine metanephrine was 7.12 (IQR, 3.7-8.8), plasma normetanephrine was 1.7 (IQR, 1.5-1.9), and 24-hour urine normetanephrine was 2.9 (IQR, 2.4-3.5). The median tumor size at the time of diagnosis was 4.2 cm (IQR, 3.3-5.2). The median pre-contrast HU on CT imaging was 37 HU (IQR, 20-40). The median time to surgical excision from the diagnosis was 2.7 months (IQR, 1.9-4.6). All patients that underwent surgery were alive without recurrence of disease at last follow-up visit with a median follow-up of 14.5 months (IQR, 0.5-18.4). Conclusions We present a series of 10 consecutive patients with composite PHEO-GN and PGL-GN. The prevalence of genetic syndrome (40%) was much higher than previously reported (up to 25% in prior reports). PHEO or PGL component of these tumors is commonly biochemically functional with metanephrine and normetanephrine elevation commonly seen. Metastatic or recurrent disease was not observed in our cohort, suggesting favorable outcomes after surgical resection.
Presentation: 6/2/2024
7780 Silver - Russell Syndrome and Free Insulin-like Growth Factor-1 Measurements
Authors: Oude Engberink R D , van den Bogert V , IJsselstijn L , van den Berg S A , van der Kaay D C 
Published: October 2024

Abstract
Disclosure: R.D. Oude Engberink: None. V. van den Bogert: None. L. IJsselstijn: None. S.A. van den Berg: None. D.C. van der Kaay: None.
Introduction: Silver - Russell syndrome (SRS) is a congenital condition characterized by prenatal and postnatal growth retardation. An underlying genetic cause is identified in approximately 60% of patients clinically diagnosed with SRS. The 2 main genetic alterations are loss of methylation of chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Patients benefit from early and appropriate growth hormone (GH) treatment. However, GH treatment in SRS patients is associated with high levels (&gt; 2 SDS) of immunoreactive Insulin-like Growth Factor-1 (IGF-1). As a result, clinicians often lower the GH dose, resulting in a suboptimal effect on growth, body composition and quality of life. There has been increased interest in measuring free IGF-1 in these conditions. Theoretically, the unbound fraction of IGF - i.e. the fraction that is readily dissociable from IGF binding proteins - is the biologically active fraction. Measurement of free IGF-1 might better reflect IGF-1 bioavailability and may be of benefit in optimizing GH treatment. Objective and methods: We explored levels of free IGF-I versus immunoreactive (total) IGF-1 in 22 SRS patients on GH treatment. Immunoreactive IGF-1 was measured on a routine immunochemistry analyzer (IDS-iSYS) and free IGF-1 was measured manually using a two-site antibody method (AnshLabs). Results: In this group of 22 SRS patients the mean immunoreactive IGF-1 was +1.96 +/- 0.48 SDS and the mean GH dose was 0.84 +/- 0.24 mg/m2/d. Subdividing into SDS categories, 45% of patients had an immunoreactive IGF-1 &gt; 2 SDS. In this subset, 60% of patients had levels of free IGF-1 in the normal range (&lt; 2 SDS). Further stratification into the underlying molecular defect showed that 11p15 LOM was associated with a more pronounced discrepancy between the level of immunoreactive IGF-1 (+2.64 SDS) and free IGF-1 (+0.25 SDS). Conclusion: In the majority of SRS patients on GH treatment, immunoreactive IGF-1 levels exceeded &gt; 2 SDS, whereas free IGF-1 levels were within normal range. Measurement of free IGF-1 could provide clinicians with an additional tool to determine the dose of GH in SRS patients. Ongoing research will reveal the full potential of free IGF-1 measurements in disorders that affect the GH - IGF-1 axis.
Presentation: 6/3/2024
12405 A Severe Case Of Virilization Of Premenopausal Woman Secondary To A Rare Testosterone Producing Sertoli Cell Tumor
Authors: Waheed Sehrish , Vernetti Nicholas John , Nakhle Samer 
Published: October 2024

Abstract
Disclosure: S. Waheed: None. N.J. Vernetti: None. S. Nakhle: None.
Introduction: We present a case of a premenopausal woman with elevated testosterone who was diagnosed with an aggressive Sertoli cell tumor of the ovary. Case Description: A 49-year-old multiparous female presented to the clinic with hirsutism and markedly elevated testosterone levels. Her symptoms started a year before the presentation with diffuse alopecia, acne, and increased muscle mass. Last menstrual periods were 3 years, prior to the presentation.Denies any exposure to testosterone herself or indirectly through family. On physical exam, blood pressure 170/122 coarse features, oily skin, and muscular build. She had terminal hair loss and increased hair growth on face and arms. Laboratory data revealed testosterone levels of 9280 ng/dl (reference range premenopausal 18-55 ng/dl), free testosterone &gt; 50 ng/dl (premenopausal0-4.2 ng/dl), LH &lt;0.3 mIU/mL (2.4-12.6 mIU/mL), FSH &lt;0.3 mIU/mL (3.6-12.5 mIU/mL), 17-OHP 2270 ng/dl (15-70 ng/dl), DHEA-S 71 ug/dl (&lt;229 ug/dl), LDL 128 mg/dl, Creatinine 1.29 and hematocrit 56% (34-44.6%). CT abdomen/pelvis showed 10 cm ovarian mass. She underwent Total Abdominal Hysterectomy-Bilateral Salpingo Oophorectomy (TAH-BSO). After the surgery, her testosterone levels normalized and features of hyperandrogenism resolved. Pathology report revealed sex cord stromal tumor Not otherwise specified (NOS) with cellular atypia and possible aggressive behavior. Discussion: Androgen-producing tumors in women are rare neoplasms that can cause secondary virilizing characteristics. Of patients presenting with symptoms of hyperandrogenism, these tumors are found in ∼0.2% of cases. Androgen-producing tumors can arise from the ovary or the adrenal gland. Those arising from the ovary are rare, accounting for &lt;5% of all ovarian tumors. Few cases of steroid cell tumors, not otherwise specified, have been reported in the literature.Testosterone elevation of more than 2 times upper normal limit increases the suspicion for cancer. In our patient, testosterone was 180 times above the normal range for women and 15 times above the normal range for men. With rapid virilization and significant elevation in testosterone, an androgen producing ovarian tumors should be considered.
Presentation: 6/2/2024
8303 Analysis of Over 2.2 Million Anti-Mullerian Hormone Patient Results Across Lifespan From Birth to Over 80 Years Using a Lab Developed Chemiluminescent Immunoassay
Authors: Cheng Cheng , Alfego David , Chun Kelly Y 
Published: October 2024

Abstract
Disclosure: C. Cheng: None. D. Alfego: None. K.Y. Chun: None.
Introduction: Anti-Mullerian hormone (AMH) is a glycoprotein produced by granulosa cells of the ovarian follicle in females and by Sertoli cells of the testes in males. AMH is best known to correlate with ovarian reserve in females. As such, AMH is among the most frequently ordered tests in reproductive age females. The clinical utility of AMH beyond ovarian reserve assessment, especially in males, pediatric and postmenopausal populations, is less commonly examined. As a national reference laboratory that serves approximately 50% of providers across the country, our large database provides an opportunity to examine the clinical utility of AMH testing in other areas of health besides fertility. Objective: To examine AMH test utilization across lifespan of males and females in the US. Methods: Retrospective AMH tests performed at Labcorp® endocrine specialty lab from year 2012 to 2023 of 2,229,845 female patients and 10,362 male patients have been analyzed. Patients with unspecified sex were excluded. Serum AMH levels from birth to 80 plus years for males vs females were compared. For clinical utility assessments, female results are separated into four age groups: pediatric (age 0-17), adult (age 18-39), perimenopausal (age 40-59), and postmenopausal (age &gt;60), and males into pediatric (age 0-17), adult (age 18-59), and older adult (age &gt;60). ICD-10 codes associated with testing order were reviewed for each subgroup based on age and sex Results: In postmenopausal females, AMH is most frequently ordered for evaluation of ovarian cancer, whereas menstrual disorders and PCOS make up the most frequent clinical entities associated with AMH orders in females &lt;18 years. Fertility testing is the most common ICD-10 associated with AMH orders, particularly in reproductive age and perimenopausal females. The most common ICD-10s associated with AMH in pediatric males include delayed puberty, hypoplasia of penis, and childhood short stature. In the adult and older adult male groups, AMH is surprisingly found to also most commonly associate with fertility testing and hypogonadism, although the clinical significance of post pubertal AMH is less defined. Conclusion: AMH testing has most often been used for female fertility testing, but our data show that significant fraction (10-20%) of AMH testing is used to evaluate and manage other suspected endocrine disorders and malignancies including intersex conditions at birth, pubertal development disorder, polycystic ovarian syndrome, male gonadal disfunction at all ages and granulosa cell tumors. Analysis of our large database underscores a need for clinical study to better define AMH levels that are relevant for non-fertility-related conditions.
Presentation: 6/2/2024
8425 Cancer Risk in Transgender Veterans Undergoing Gender-Affirming Hormone Therapy in a Single Medical Center
Authors: Vanasco Alessandra , Chitnavis Annapurna , Vinales Karyne Lima , Correa Ricardo Rafael 
Published: October 2024

Abstract
Disclosure: A. Vanasco: None. A. Chitnavis: None. K.L. Vinales: None. R.R. Correa: None.
Background: The risk of cancer in the transgender patients while on Gender Affirming Therapy is still a source of safety concern among healthcare professionals. We aimed to assess the cancer incidence and potential risk factors in this population. Methods: An initial cohort of 428 charts within the Phoenix VA Healthcare System from January 1990 through October 2023 were identified using ICD codes consistent with a diagnosis of gender dysphoria. From this initial cohort, we completed a chart review of 94 patients who received GAHT through the endocrinology department. The collected information included type of cancer diagnosis, self-reported GAHT start date if not at the Phoenix VA, and risk factors for cancer (HPV, HIV, smoking history) along with recommended cancer screening, like latest mammogram, pap smear, and colonoscopy. Results: We identified 67 transgender women and 27 transgender men, 53.8± 16.0 and 43.8 years ± 12.6 years-old, with an average of 10 years of GAHT (10.1±7.4 years for estradiol therapy and 10.2±4.4 years for testosterone therapy, range 0.5-44 years of use). Cancer was diagnosed in 18 (27.7%) transgender women, including 8 skin, 3 lung, 2 prostate, 2 tongue, 1 thyroid, 1 musculoskeletal, 1 sinus, 1 bladder cancer. Among our transgender women, 37% were current and 33% were prior smokers. Two (3.0%) were HPV positive and both had cancer diagnoses, while two (3.0%) were HIV positive and neither had a cancer diagnosis. 19 (28.4%) underwent colonoscopies with benign results and 48 (71.6%) were untested. 21 (31.3%) underwent mammograms with benign findings, 1 (1.5%) had a mastectomy and reconstruction, and 45 (67.2%) were untested. Cancer was diagnosed in 3 (10.3%) transgender men, and included 2 skin, 1 breast, 1 cervical cancer. 4 (14.8%) were HPV positive, none of which had cancer. Forty percent of the transgender men were active smokers and an additional 30% were prior smokers. None were HIV positive. 8 (29.6%) underwent colonoscopy, 7 of which were benign and 1 pending results, and 19 (70.1%) were untested. Three (11.1%) underwent mammograms with benign findings, 16 (59.3%) had bilateral mastectomies, and 8 (29.6%) were untested. Eleven (40.7%) had pap smears with 10 benign findings and 1 ASCUS, 11 (40.7%) had hysterectomies, and 5 (18.5%) were untested. Conclusion: Our study sheds light on cancer incidence in transgender veterans undergoing GAHT. Incidence of cancer was higher in transgender women than transgender men, and the leading type of cancer for both groups was of the skin, not considered a GAHT risk. Significant numbers of both transgender men and women did not receive recommended health screenings, highlighting the need for improved education of screening importance.
Presentation: 6/2/2024
8551 Comparability of Free Testosterone Measurements
Authors: Zhou Hui , Sugahara Otoe , Danilenko Uliana , Vesper Hubert W 
Published: October 2024

Abstract
Disclosure: H. Zhou: None. O. Sugahara: None. U. Danilenko: None. H.W. Vesper: None.
Assessment of free testosterone (FT) has been recommended as a biomarker for diagnosis and management of hypogonadism and female hyperandrogenism. Reliable laboratory measurements are essential for properly diagnosing and treating these diseases. FT is currently measured using direct commercial immunoassays, assays using equilibrium dialysis (ED) or other separation techniques, or estimated by calculating free testosterone (cFT) using different formulas based on the levels of total testosterone and sex hormone binding globulin (SHBG). There are concerns about the accuracy and reliability of current methods that may negatively impact correct detection, treatment, and prevention in patient care. CDC’s Clinical Standardization Programs (CDC CSP) has developed an accurate, high throughput method using ED coupled with isotope dilution ultra-high-performance liquid chromatography tandem mass spectrometry (ED-UHPLC-MS/MS). The ED step uses an internationally recognized procedure and is performed in a custom designed dialyzer system that allows maintaining equal ratio of sample-to-buffer volume. The method uses certified pure primary reference material (National Measurement Institute-M914) as calibrator. The method has a limit of detection of 0.6 pg/mL, with an accuracy of ±5%, and precision less than 10% CV. The measurement range is 2 – 2000 pg/mL. The analytical performance of this method as well as other FT methods used in patient care was assessed using single-donor serum samples. The evaluated methods included two commercially available platforms utilizing Chemiluminescence Immunoassay or radioimmunoassay techniques, as well as six laboratory-developed assays using ED-LC-MS/MS. The results of the interlaboratory comparison study will help assessing the current level of agreement among FT assays, to identify potential factors causing differences among assays, and to assist with developing materials to improve the agreement among assays.
Presentation: 6/1/2024
5065 Cyproterone Acetate Versus Spironolactone In Transgender Women Commencing Estradiol: A Randomized Controlled Trial
Authors: Angus Lachlan M , Leemaqz Shalem , Kasielska-Trojan Anna , Mikołajczyk Maksym , Doery James , Zajac Jeffrey D , Cheung Ada S 
Published: October 2024

Abstract
Disclosure: L.M. Angus: Advisory Board Member; Self; Kirin Brewery. Speaker; Self; Kirin Brewery. S. Leemaqz: None. A. Kasielska-Trojan: None. M. Mikołajczyk: None. J. Doery: None. J.D. Zajac: None. A.S. Cheung: None.
Background: Transgender women commonly use cyproterone acetate or spironolactone as anti-androgens with estradiol to assist with feminization. However, the optimal anti-androgen is unclear. We aimed to assess the effect of these anti-androgens on breast development and hypothesized that cyproterone acetate would result in greater breast development than spironolactone due to greater androgen receptor antagonism and suppression of serum total testosterone. Design: Double-blind, randomised controlled trial Methods: Transgender women newly commencing estradiol were randomized to spironolactone 100mg daily or cyproterone acetate 12.5mg daily for six months. The primary outcome was measurement of breast development via breast chest distance with secondary outcomes of estimated breast volume using the BreastIdea Volume Estimator application and serum total testosterone using LCMS. Results: Fifty-five participants were included in per protocol analysis (cyproterone acetate group n=28, spironolactone group n=27). Baseline age, body mass index, breast indices, serum estradiol and serum total testosterone were comparable. At six months, the mean (standard deviation) breast chest distance was 9.2cm (3.0) in the cyproterone group versus 8.3cm (2.7) in the spironolactone group (p=0.27). The mean (SD) estimated breast volume was 190.25 mL (158.60) in the cyproterone acetate group and 157.84mL (112.03) in the spironolactone group (p=0.39) with significant inter-individual variation (range 20.27 - 787.77 mL). The mean (SD) serum total testosterone was 1.48 nmol/L (3.45) in the cyproterone acetate group and 4.29 nmol/L (5.44) in the spironolactone group (p=0.04). Serum estradiol levels were comparable. Use of cyproterone acetate was associated with mild hyperprolactinaemia and spironolactone with an increase in serum urea and creatinine. Conclusions: Choice of anti-androgen should be individualised based on clinician and patient preference, with consideration of associated side effects. Further research is needed to optimise breast development in transgender women.
Presentation: 6/3/2024