bluuebunny/crossref_metadata_2025_split huggingface dataset:
12546 Association Of Quality Of Life And Age At Diagnosis In Women With Turner Syndrome
Authors: Julian G , Folsom L J 
Published: October 2024

Abstract
Disclosure: G. Julian: None. L.J. Folsom: None.
Background: There is a well-documented association between chronic disease and decreased quality of life (QoL), including in women with Turner syndrome (TS). Much of the existing research exploring QoL in women with Turner syndrome primarily establishes the finding of decreased QoL; fewer studies seek to explore potential etiologies for this finding. Health-related QoL (HRQoL) has been evaluated using the HRQOL 14, a validated measure of QoL, since 1995, and in individuals &gt;12 years of age as part of National Health and Nutrition Examination Survey (NHANES). The primary objective of our study was to investigate the relationship between HRQoL in women with TS and age of TS diagnosis (AoD). A secondary aim included identification of correlations between medical treatment history and HRQoL. Methods: After obtaining IRB approval, the electronic medical record (EMR) was queried using the “slicer-dicer” feature using search and limiting criteria based on desired and specified variables. Inclusion criteria encompassed a documented diagnosis of TS, a recorded office visit within the past 2 years, and participant age of at least 18 years at time of study initiation. Exclusion criteria included lack of a confirmed diagnosis of TS, presence of other diseases known to influence stature or pubertal development, inability to understand the survey, lack of ability to read or speak English, and diagnosis of TS within the past year. QoL was assessed using the HRQOL 14. After review for exclusion criteria an opt-out letter was mailed via USPS. Results: Thirty participants completed the study out of 84 qualifying individuals. Early AoD was defined as younger than 13 years; late AoD was defined as &gt;12 years. Twenty-four participants met criteria for early AoD; six met criteria for late AoD. The mean age for early diagnosis was 6 years and the mean age for late diagnosis was 23 years. The early AoD group reported fewer medical problems (3.6 vs. 6.2 other medical problems, p=0.009), was less likely to state days of lack of sufficient sleep (4.5 vs. 30 days, p=0.001), and was less likely to note days of limited physical activity due to pain (1 vs. 15 days, p=0.007). Conclusions: The novel finding of association of earlier AoD of TS and fewer medical problems invites the possibility that other health conditions may be more effectively managed if TS is diagnosed earlier. This finding highlights the opportunity for enhanced care with earlier AoD.
Presentation: 6/1/2024
8679 Case: The Sexual, Physical and Psychological Effects of Post-Finasteride Syndrome
Authors: Lonergan Eibhlin Marie , Maher Sean Martin , Yaseen Ibrahim , O'Shea Donal Brendan 
Published: October 2024

Abstract
Disclosure: E.M. Lonergan: None. S.M. Maher: None. I. Yaseen: None. D.B. O'Shea: None.
Post-finasteride syndrome (PFS) is an increasingly recognised disorder with a myriad of physical and neuropsychiatric symptoms persisting for greater than three months in a small proportion of patients treated with Finasteride. We present the case of a 45-year-old male who was taking oral Finasteride for hair loss. He first presented to endocrinology services having stopped Finasteride after twenty years reporting new onset reduced libido, penile shrinkage, fatigue, new food intolerances and agitated depression which was the predominant symptom in this case. He described the emergence of gynaecomastia, which was evident on examination, as well as muscle atrophy. Biochemistry was unremarkable including testosterone 24.6 nmol/L (8.6-29.0), oestradiol 100 pmol/L (50 – 159), LH 7.1 IU/L (1.7-8.6), FSH 16.8 IU/L (1.5-12.4), urinary free cortisol 177 nmol/24h (12-486) and urinary steroid profile. The patient was offered a trial of IM testosterone for 3 months followed by a course of hCG which he declined after discussing with patients online via a PFS patient forum citing anecdotal pseudo immune downregulation in this cohort. GLP-1 receptor agonist therapy was considered as a second-line treatment option. The patient expressed a preference for hydrocortisone treatment after conducting online research which has not been commenced due to a lack of evidence. The inhibition of 5-alpha-reductase in Finasteride-treated patients has been documented to cause reversible sexual dysfunction. However, with increasing case reports of PFS, it was included in the list of Rare and Genetic Diseases of the NIH in 2015. The syndrome encompasses symptoms and signs seen in our case, as well as erectile dysfunction, decreased ejaculatory volume, infertility, Peyronie’s disease, testicular pain, dry skin, memory problems and insomnia. Suicidal ideation was included in the product label as per FDA mandate in 2022. The literature is largely inconclusive regarding the underlying aetiology, duration, and severity of the disorder. A large retrospective study revealed 0.8% of patients developed sexual dysfunction with persistence in 33% of these cases after drug suspension, the main independent risk factor being drug treatment for longer than 7 months. Neuropsychiatric symptoms are likely related to the presence of 5-alpha-reductase isoforms in the brain with resulting alterations in CSF and plasma neuroactive steroid levels and metabolites. Evidence-based treatment options for PFS are limited. PFS is a rare but debilitating syndrome to which a subset of patients appears to be predisposed, but of which the pathophysiology is poorly understood. Further studies in this regard, as well as an exploration of effective treatment options are required.
Presentation: 6/1/2024
12456 Changes In High-sensitivity Cardiac Troponin I After 12 Months Of Gender Affirming Hormone Therapy
Authors: Cheung A S , Bretherton I , Perera S , Singh L , Chiang C Y 
Published: October 2024

Abstract
Disclosure: A.S. Cheung: None. I. Bretherton: None. S. Perera: None. L. Singh: None. C.Y. Chiang: None.
Background: Due to differences in cardiac size and physiology between cisgender men and women, sex-specific reference cut-offs are recommended for Abbott high-sensitivity cardiac troponin I (hsTnI) to improve diagnostic accuracy of acute coronary syndrome. There are no prospective studies which examine the impact of gender affirming hormone therapy on hsTnI. We aimed to prospectively evaluate the change in hsTnI in transgender men and women newly commencing gender affirming hormone therapy (GAHT) compared to cisgender men and cisgender women over 12 months. Methods: Transgender men (TM) and transgender women (TW) aged &gt;18 years newly commencing GAHT were recruited from outpatient endocrine clinics. Cisgender men (CM) and cisgender women (CW) were recruited from local community advertisements. Fasting serum collected at baseline and 12 months was frozen at - 80 degrees with batch analysis on the Abbott ARCHITECT i2000 hsTnI assay. One-way ANOVA analysis was performed on age, baseline hsTnI, repeat hsTnI, and change in hsTnI over 12 months between the 4 groups. Chi-square was used to analyze categorical status of detectable hsTnI using a Limit of Quantitation of &lt; 2 ng/L. Data are presented as mean (standard deviation). P value &lt; 0.05 is defined as significant. Results: Baseline samples were available for 263 participants, and 103 had paired baseline and repeat hsTnI samples. The mean age of participants was 31 years ± 12.4 and none had renal impairment. The TM group was younger (n=58, 25.7 ± 6.2 years old, p &lt; 0.005) compared to the other 3 groups (TW n=56, 33.8 ± 15.7 years, CM n=70, 32.7 ± 13.8 years, CF n=79, 31.2 ± 10.7 years). At baseline, CM (2.1 ± 2.4 ng/L) had comparable hsTnI to TW (1.8 ± 2.1, p = 0.9), but higher hsTnI compared to CF (0.8 ±1.1, p &lt; 0.001) and TM (1.1 ± 1.8, p = 0.03). At 12 months follow-up, CM (2.5 ± 2.8ng/L) had higher hsTnI compared to TW (0.9 ± 0.9, p = 0.004), CF (0.6 ±0.6, p &lt; 0.001) and TM (0.9 ± 0.5, p = 0.002). There was a significant decrease in hsTnI after 12 months in TW (-1.4 ± 2.2) compared with CM (0.6 ± 1.9, p = 0.013). Detectable baseline hsTnI became undetectable (&lt;2ng/L) in 73% (8/11) of TW compared to 13% (1/8) CM subjects (p = 0.03). Conclusions: After 12 months of GAHT, hsTnI in transgender women reduced and became comparable to cisgender women and transgender men. Our data supports the use of the cisgender female hsTnI reference cut-off in transgender women and transgender men. Data suggests a possible reduction in cardiac muscle mass or improvement in cardiac physiology occurs after 12 months of GAHT in transgender women.
Presentation: 6/1/2024
9172 Contrasting Bone Profiles In Pcos Are Related To Bmi: A Systematic Review And Meta-analysis
Authors: Premaor Melissa Orlandin , Risseti Graziela , Piovezan Julia , Comim Fabio Vasconcellos 
Published: October 2024

Abstract
Disclosure: M.O. Premaor: None. G. Risseti: None. J. Piovezan: None. F.V. Comim: None.
Polycystic ovary syndrome (PCOS) is a complex and multifaceted disorder that may affect bone health. Controversial results have emerged regarding whether PCOS is protective or increases the risk of bone frailty. We conducted a systematic review and meta-analysis of published research on bone mineral density (BMD), bone markers, and the risk of fractures in individuals with PCOS. We searched MEDLINE, Embase, and conference s and preprints. Studies were eligible if the PCOS was defined according to the NIH criteria, the Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group criteria, AE-PCOS society criteria, or ICD codes. The endpoints studied included fractures, bone mineral density (BMD), and bone markers. The study protocol is available at PROSPERO (CRD42016049664). From the 3322 studies identified in the databases, 111 had their full texts evaluated, and 31 studies met the inclusion criteria for qualitative analysis. Overall, cross-sectional studies included 1822 individuals with PCOS and 1374 controls, while cohort studies incorporated 30305 women with PCOS and 101907 controls. No differences were observed between individuals with PCOS and the control group in the pooled analysis for the whole group. Nevertheless, contrasting profiles emerged after stratification using a BMI cutoff of 27 kg/m2. Women with PCOS and a mean BMI &lt;27 kg/m2 exhibited lower spine BMD (MD -0.060; 95% CI, -0.110 and -0.011) and total hip BMD (MD -0.042; 95% CI, -0.068 and -0.017), and increased bone resorption marker (CTX) levels (SMD 0.38; 95%CI 0.03 and 0.72). Conversely, women with PCOS and a mean &gt;27 kg/m2 exhibited increased spine BMD (MD 0.029; CI 95%, 0.009 to 0.048) and total hip BMD (MD 0.036; CI 95%, 0.010 to 0.063), with no significant changes in bone resorption markers. Due to the limited number of longitudinal studies available, it was not possible to determine the risk of bone fractures in both groups. In conclusion, the findings of this systematic review show a negative impact of PCOS on bone health in women with a BMI &lt;27 kg/m2, suggesting that increased surveillance and research for bone disease may be necessary for this particular group.
Presentation: 6/3/2024
7770 Damage of Ovarian Vasculature by Chemotherapies induces Ovarian Dysfunction in Mice
Authors: So W , Dong R , Luan Y , Abazarikia A , Kim S Y 
Published: October 2024

Abstract
Disclosure: W. So: None. R. Dong: None. Y. Luan: None. A. Abazarikia: None. S. Kim: None.
Background: Chemotherapy demonstrates efficacy to destroying cancer cells; however, it can inadvertently impact normal healthy cells, leading to irreversible side effects, particularly affecting the ovaries in female patients. Female cancer survivors encounter endocrine dysfunction and infertility due to ovarian damage caused by gonadotoxic cancer therapies. The ovary, a vital organ responsible for producing oocytes and endocrine hormones, faces significant challenges following such treatment. A study with premenopausal breast cancer patients reported a significant reduction in ovarian blood flow and volume immediately following chemotherapy. The preservation of ovarian function depends on the ovarian vasculature in supporting the development and maintenance of ovarian follicles. Despite its importance, the relationship between ovarian vasculature and follicle following chemotherapy has not been studied. Results: To investigate the direct impacts of chemotherapy, ovaries from postnatal 5 CD-1 mice were subjected to testing with three chemotherapeutic agents: cisplatin (CDDP), cyclophosphamide (CPA), and doxorubicin (DOXO). The expression of CD31/PECAM-1 (platelet endothelial adhesion molecule) exhibited a significant decrase after 96 hours of culture with 4-HC, an active metabolite of CPA. This reduction implies that ovarian vasculature was also compromised when chemotherapy eliminated immature follicles. In order to evaluate the influence of vascular endothelial growth factor (VEGF) in safeguarding both vasculature and ovarian follicles, ovaries were co-cultured with VEGF165 or VEGF165b in combination with chemotherapy. Interestingly, pre-treatment with VEGF165 before 4-HC led to an increased expression of CD31 in the cortex area, while VEGF165b further diminished CD31 expression compared to treatment with 4-HC alone. Additionally, adolescent CD-1 mice were intraperitoneally injected with CDDP, CPA, or DOXO, and ovaries were harvested one week after injection. Ovaries treated with chemotherapeutic agents exhibited a reduction in ovary weight and decreased CD31 expression compared to control mice. Conclusions: We propose that these chemotherapeutic agents not only induced the loss of ovarian follicles but also affected ovarian vasculature in mice. This suggests a potential decrease in folliculogenesis within the ovary, coupled with the depletion of ovarian reserve, as the delivery of nutrients and oxygen to growing ovarian follicles may be compromised. VEGF165 may play a beneficial role in maintaining ovarian function by safeguarding ovarian vasculature following chemotherapy. Understanding these intricate dynamics is essential for developing strategies to mitigate the negative impact of cancer therapies on reproductive health in female cancer survivors, particularly in preserving endocrine function and reproductive lifespan.
Presentation: 6/2/2024
8228 Effect of Long-Term Testosterone Therapy on Cardiovascular Safety among Adult Male Patients with Testosterone Deficiency
Authors: Lin Y , Gupta S , Shi L , Fonseca V A 
Published: October 2024

Abstract
Disclosure: Y. Lin: None. S. Gupta: None. L. Shi: None. V.A. Fonseca: None.
Background: As testosterone therapy (TTh) prescriptions are increasing rapidly, the cardiovascular (CV) safety of TTh remains controversial among observational studies and clinical trials. Our objective is to determine the CV safety of long-term TTh in adult men with testosterone deficiency (TD) in a real-world setting. Method: This is a multi-center retrospective study comparing testosterone-treated men with untreated men diagnosed with TD. A total of 2,683 men (18+ years) with confirmed TD diagnosis and continuous enrollment were extracted from the REACHnet electronic health records data from 1/1/2013-7/1/2022. The TD was confirmed by at least 2 TD diagnoses (ICD-9/10 codes 253, 257.1, 257.2, 257.8, 257.9, E23, E29.1, E29.8, E29.9) and with the serum testosterone level less than 350 ng/dl before the first recorded TD diagnosis. We further excluded patients with a malignancy history prior to the first TD diagnosis date. Propensity score matching (PSM) by 1:1 ratio based on age, race, Charles Comorbidity Index, and serum testosterone level was conducted among men with TD. The treated group of 928 patients who were compared to the untreated group of 928 patients who opted against taking TTh. The intent to treat analysis using Kaplan-Meier curves and Cox regressions was used to examine CV risk for major adverse cardiovascular events (MACE), defined as a composite outcome of myocardial infarction, stroke, and cardiovascular death. Results: The treatment and control cohorts with 928 patients each had a median follow-up of 3 years. After PSM, only body mass index, diastolic blood pressure, hyperlipidemia, hypertension, depression, and anxiety were statistically significant between treatment and control cohorts. The log-rank test for the cumulative MACE incidence was comparable (p-value&gt;0.05). There were no statistically significant associations between TTh use and increased CV risk in the univariate Cox regression (Hazard Ratio (HR) [95% CI]: 1.01 [0.75-1.36]) and Cox regressions adjusted by the pre-existing MACE (HR [95% CI]: 0.98 [0.72-1.32]) and other baseline covariates (HR [95% CI]: 0.93 [0.68-1.26]). Conclusion: TTh use among adult males with TD was not found to be associated with increased CV risk in real-world clinical practice. Further studies are needed for TTH use in a high-risk population with cardiovascular risk factors.
Presentation: 6/1/2024
6951 European survey of diagnosis and management of the polycystic ovary syndrome: full report on the ESE PCOS Special Interest Group’s 2023 Questionnaire
Authors: Livadas S , Yildiz B O , Mastorakos G , Gambineri A , Pignatelli D L , Giorgino F , Andersen M , Obermayer-Pietsch B M , Macut D P 
Published: October 2024

Abstract
Disclosure: S. Livadas: None. B.O. Yildiz: None. G. Mastorakos: None. A. Gambineri: None. D.L. Pignatelli: None. F. Giorgino: None. M. Andersen: None. B.M. Obermayer-Pietsch: None. D.P. Macut: None.
Background: Although polycystic ovary syndrome (PCOS) constitutes a common endocrinopathy, there are several issues which confuse clinicians during everyday practice.Objective: To define the current status of knowledge of the full spectrum of PCOS among European endocrinologists. Methods: A detailed questionnaire comprising 41 items covering various aspects of diagnosis and management of women with PCOS was shared via web among members of European Society of Endocrinology. Results: 505 European endocrinologists (64% females), with a mean age of 47±11.6 years answered the questionnaire. Rotterdam criteria were used by 85% of endocrinologists. The most frequent age at referral was between 20-40 years (87.1%). A quarter of doctors have access to mass spectrometry for the evaluation of androgen levels. Extended metabolic profile was part of workup by the vast majority, but there was significant uncertainty regarding the diagnosis of chronic anovulation. Diabetes, gestational or type 2, was considered a major consequence for women with PCOS and screening is carried out regardless of BMI status. Lifestyle modification and metformin are considered a standard approach of all participants and oral contraceptives are a standard therapeutic modality, but there is significant discrepancy on the duration of treatment.Conclusions: Rotterdam diagnostic criteria are currently an established diagnostic approach within the European endocrine community. This updated survey showed an advance in using steroid profiling for diagnosis and strong position on recognizing PCOS as a metabolic condition with potential broader consequences. Therapeutic aspects are currently changed into the need for more lifestyle intervention involvement and the use of metabolic therapies either as monotherapy or in combination with standard hormonal compounds.
Presentation: 6/3/2024
6626 Fertility considerations in Klinefelter Syndrome complicated by hypogonadotrophic hypogonadism
Authors: Govinna Mauli , Sarlos Stella , Allan Carolyn A , Giri Rinky 
Published: October 2024

Abstract
Disclosure: M. Govinna: None. S. Sarlos: None. C.A. Allan: None. R. Giri: None.
Background: Klinefelter syndrome (KS) remains underdiagnosed with less than 50% of men ever diagnosed and &gt;90% of diagnoses only occurring when fertility is sought. MicroTESE (microscopic testicular sperm extraction) is now successful in 47-69% [1]. Optimal timing of the procedure is uncertain. Case: A 14-year-old male student with a history of renal stones (normal genitourinary tract anatomy) and anxiety presented with a six-day history of new onset headaches and transient visual blurring. MRI scan showed a 2.1cm pituitary lesion with local mass effect and minimal compression of the optic chiasm. Pre-operative pituitary panel: FSH 29.8 IU/L (1.2 - 5.2 IU/L); LH 8.8 IU/L (2.0 - 8.0 IU/L); testosterone 10.9 nmol/L (0.7 - 17.6 nmol/L). Remainder of anterior pituitary function was normal; no AVP deficiency. On examination, Tanner stage P4 G4, testicular volumes 5-6ml (right) and 6-8ml (left) (expected range 15-20ml). Height 175cm (75th centile) and weight 60.1kg (63rd centile). Transsphenoidal resection (TSS) of the pituitary lesion was performed. Intraoperative appearances were suggestive of craniopharyngioma adherent to the pituitary stalk, with stalk transection to achieve complete resection. Post-operatively AVP-deficiency, hypocortisolism and secondary hypothyroidism required replacement therapy. Histopathology was subsequently consistent with Rathke’s cleft cyst. Karyotype testing confirmed 47 XXY genotype (Klinefelter syndrome). Post-TSS FSH and LH levels were 0.7IU/L (1.2 - 5.2 IU/L) and 0.3 IU/L (2.0 - 8.0 IU/L); with testosterone &lt;0.1 nmol/L (0.7 - 17.6 nmol/L), consistent with hypogonadotrophic hypogonadism superimposed on a background of primary hypogonadism. Testosterone replacement therapy was commenced following discussion regarding potential future fertility options. Discussion: This diagnosis of KS highlights the importance of thorough assessment of pubertal development and testicular examination. Small testes with hypergonadotrophic hypogonadism in the context of pituitary pathology should trigger further assessment. Fertility preservation procedures in prepubertal and adolescent boys with KS remain controversial [2]. This patient represents a unique scenario whereby he is LH and FSH deficient post TSS. Whilst prior treatment with hCG does not increase sperm retrieval in non-mosaic KS [3] there may be a role for gonadotrophin therapy prior to undertaking microTESE in our patient. To date, there are no reported cases. References1. Sá R et al. Genes 2023, 14, 647. 2. Pook CJ et al. Front Reprod Health. 2021 Aug 3;3:629179.3. Guo F et al. Fertil Steril. 2020 Nov;114(5):997-1005.
Presentation: 6/1/2024