Endocrine Abnormalities Research Articles

Quality of Life of Women with Polycystic Ovary Syndrome.

Background and Objectives: Polycystic ovary syndrome (PCOS) is an endocrine disorder characterized by multiple hormonal and metabolic abnormalities, including insulin resistance, hyperandrogenism, and disturbances in lipid and carbohydrate metabolism. The objective of this study is to assess the quality of life of women diagnosed with polycystic ovary syndrome (PCOS) and to identify any factors within the study group that may impact the scores related to quality of life. Materials and Methods: This research was carried out among women diagnosed with PCOS. An original questionnaire, developed through an online Google Forms survey, was utilized as the research instrument and distributed through social networks and support groups to women facing PCOS. This study encompassed a participant pool of 200 women with PCOS, aged 24 years or older. For the analytical component, Pearson's χ2 test was employed-a nonparametric test designed to assess the relationship between two variables measured on a qualitative scale. The chosen level of statistical significance was set at p < 0.05. Results: The analysis revealed that the quality of life of the women under study was not linked to the duration of the disease or comorbidities. However, a significant association was observed with the inconvenience caused by PCOS symptoms. Women experiencing very bothersome symptoms of PCOS reported a lower quality of life compared to those with symptoms rated as not very bothersome. Despite the majority of women with PCOS rating their quality of life as good or very good, they often find the associated symptoms of PCOS bothersome. Women reporting lower quality of life tend to acknowledge the impact of PCOS on their lives, experience a sense of lack of control over the disease, struggle with depression, and do not accept their physical appearance. Conclusions: Hence, the support from specialists like endocrinologists, gynecologists, and nutritionists becomes crucial for many women dealing with PCOS. Adopting a healthy lifestyle, incorporating a balanced diet, and engaging in regular physical activity can assist in managing the troublesome symptoms of PCOS, thereby enhancing overall quality of life. In instances of emotional difficulties, seeking psychological support is equally important, and the significance of support and acceptance from loved ones should not be overlooked.

(303) The Predictive Role of Baseline Hormone Profile Evaluation for the Likelihood of Having a Child in Infertile Men

Abstract Introduction Sex hormone profile evaluation is commonly used in male infertility assessment to identify potential hormonal imbalances and underlying issues that can impact sperm production, sperm quality, or reproductive organ function. Objective To evaluate the likelihood of having a child in subfertile and infertile men within five years based on their serum hormone levels on their initial encounter for infertility evaluation/treatment. Methods We identified a retrospective cohort from the Subfertility, Health, and Assisted Reproduction (SHARE) study (compiled 1996-2017) linked with familial information from the Utah Population Database (UPDB) including all men with a measured value of albumin, follicle-stimulating hormone (FSH), luteinizing hormone (LH), Free testosterone (T), total, and bioavailable T, sex hormone binding globulin (SHBG), and estradiol (E). We included men who had a semen analysis (SA) within 1 year of their hormone measurement. The primary outcome of the study was any evidence of childbirth, and the secondary outcome was the time from baseline hormone evaluation to childbirth. All men were followed for 60 months after their recorded hormone value for evidence of childbirth. Using Cox proportional hazards models, we modeled the likelihood of having a child and the time to childbirth (using linear regression) against the quintile of hormone distribution. Results A total number of 1298 men who underwent hormone profile evaluation and SA were included in this study. The mean age for the total cohort was 33 (29-37) years old. Men who had a child at the end of the study period (31 (28-36)) were significantly younger than men without a child at the end of the study with a mean age of (35.5 (32-40.25)) (p &amp;lt; 0.001). The mean sperm concentration for the total cohort was 7.6 (1-27.4) (M/ml) and the mean total progressive motile count was 9 (0.9-47) (M). Overall, semen parameters showed no significant differences between men who had a child at the end of the study follow-up versus men who did not. Our models showed that prolactin serum levels in quantile 7 have the highest ratio (2.236 (0.919-5.44) p=0.076) for the likelihood of having a child. Total testosterone in quantiles 3 and 5 showed an increased likelihood of having a child (2.119 (1.176-3.821) (p=0.012), (2.518 (1.412-4.491)) (p=0.002), respectively. Albumin in quantiles 5-9 followed a similar pattern with the highest ratio in quantile 8 (3.551 (1.486-8.487)) (p=0.004). Our results did not show meaningful patterns between semen parameters, serum hormone levels, and time to having a child. Conclusions The outcomes of this study indicate that prolactin, total testosterone, and albumin serum levels on the first visit in men with infertility concerns are associated with an increased likelihood of having a child. Abnormal semen analysis outcomes are not well associated with hypoandrogenism in infertile men. Our study shows that baseline serum prolactin, total testosterone, and albumin levels can be used to estimate the likelihood of having a child in subfertile and infertile men. These findings can provide the basis for further studies to determine an optimal screening method for male-factor infertility related to abnormal hormone levels. Disclosure Any of the authors act as a consultant, employee or shareholder of an industry for: Equity/salary/officer in company: Paterna bio, firmtech; Consulting: Turtle health, maximus, carrot; inherent bio.

Correlation between acne and insulin resistance; experience from central India.

Acne is a common dermatological condition primarily seen in teenage and adolescent patients and is a major concern for cosmological issues. Along with environmental factors, the proliferation of basal keratinocytes in the sebaceous-pilosebaceous unit, abnormal desquamation of follicular corneocytes, and metabolic abnormalities play a significant role in the pathogenesis of acne development. To study the causal relation between acne vulgaris and insulin resistance by calculating Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) and identify the relation between insulin resistance and the severity of acne. This was a retrospective study, where the data of patients with persistent Acne Vulgaris who were referred to the Endocrine department for evaluation of the hormonal and metabolic causes for acne vulgaris were analysed. The patient's clinical records were evaluated in whom there was no significant hormonal or metabolic abnormality identified known to cause persistent acne were included after proper consent and HOMA-IR was calculated. Of several patients with persistent acne, 150 patients were included in our study with the male-to-female ratio was 23:27. The mean age of patients was 33.2 years. The mean HOMA-IR in our acne patients was 1.62 ranging from 0.9-3.7. Sixty four (42.67%) patients had HOMA-IR more than 2.0, thereby suggesting insulin resistance. Our study suggests the prevalence of insulin resistance in 42.67% of patients with acne, thereby providing the possibility of use of insulin modifiers as an adjunct acne treatment and stratifying the possible risk of metabolic syndrome in patients with acne. Also recommended is the control of dietary factors and lifestyle modification for the management of acne with insulin resistance.

Predictive value of thyroid function in severe aplastic anemia patients treated with immunosuppressive therapy.

To explore the predictive value of thyroid function in severe aplastic anemia (SAA) patients treated with immunosuppressive therapy (IST), 149 SAA patients in our center were enrolled between February 2015 and June 2020 in this study. We assessed the thyroid function of 134 patients without primary thyroid diseases, and discovered that 89 patients were accompanied by abnormal thyroid hormone, especially low triiodothyronine (T3). Patients with higher pretreatment-free T3 (FT3) levels (>5 pmol/L) demonstrated superior response rates at 3 and 6 months after IST compared to those with lower FT3 levels (54.5% vs 35.4%, P = .020; 67.3% vs 46.9%, P = .020). Multivariate analysis indicated that shorter disease duration (≤56 days) and response at 6 months were independent favorable factors of overall survival (relative risk [RR] = 2.66, 95% confidence interval [CI] = 1.03-6.90, P = .040; RR = 30.10, 95% CI = 4.02-225.66, P = .001). The 6-year failure-free survival (FFS) was 53.8% (95% CI = 40.9%-65.1%). Multivariate analysis revealed that patients with a response at 6 months, shorter duration (≤56 days) and receiving rabbit antithymocyte globulin (ATG) had better FFS outcomes than those without a response at 6 months, with a longer duration and receiving porcine ATG (RR = 22.6, 95% CI = 7.9-64.9, P < .001; RR = 2.4, 95% CI = 1.3-4.5, P = .006; RR = 2.5, 95% CI = 1.1-5.8, P = .030). In conclusion, FT3 levels reflect the severity of SAA, and patients with higher FT3 levels (>5 pmol/L) had superior response rates than those with lower ones.

Bushenhuoluo Decoction improves polycystic ovary syndrome by regulating exosomal miR-30a-5p/ SOCS3/mTOR/NLRP3 signaling-mediated autophagy and pyroptosis

BackgroundPolycystic ovary syndrome (PCOS) is a frequent and complicated endocrine disease that remains a major reason for infertility. Bushenhuoluo Decotion (BSHLD) has been validated to exhibit curative effects on PCOS. This study was aimed to explore the potential mechanism underlying the therapeutic action of BSHLD.MethodsPCOS rat model was induced by dehydroepiandrosterone (DHEA). Serum hormone and cytokines levels and ovarian pathological alterations were measured to assess ovarian function. Exosomes (Exos) were identified by Transmission electron microscopy and Nanoparticle Tracking Analysis. RT-qPCR, Western blotting, immunohistochemical staining, and immunofluorescence staining were performed to detect molecule expressions. Proliferation and pyroptosis of granulosa cells (GCs) were evaluated by CCK-8 and flow cytometry, respectively. The binding relationship between miR-30a-5p and suppressor of cytokine signaling 3 (SOCS3) was verified by dual luciferase reporter and RIP assays.ResultsBSHLD treatment improved serum hormone abnormality, insulin sensitivity, and ovarian morphologic changes of PCOS rats. Moreover, BSHLD treatment restrained the excessive autophagy and pyroptosis in ovarian tissues of PCOS rats. Moreover, BSHLD reduced the expression of miR-30a-5p in serum, serum-derived Exos, and ovarian tissues, thus inhibiting autophagy and NLRP3-mediated pyroptosis in GCs. Mechanistically, SOCS3 was proved as a target of miR-30a-5p and could activate mTOR/P70S6K pathway to repress autophagy. The inhibitory effect of miR-30a-5p deficiency on autophagy and pyroptosis of GCs was attenuated by rapamycin.ConclusionCollectively, BSHLD suppressed autophagy and pyroptosis to improve POCS by regulating exosomal miR-30a-5p/SOCS3/mTOR signaling.

DEEP LEARNING FOR POLYCYSTIC OVARIAN SYNDROME CLASSIFICATION USING CONVOLUTIONAL NEURAL NETWORK

Polycystic Ovarian Syndrome (PCOS) is the main cause of infertility in women. This condition results in abnormal hormone levels. Women who experience this syndrome will have irregular hormone levels and experience irregular menstrual cycles as well, thereby affecting the reproductive system. Symptoms that arise as a result of the increase in these hormones can be seen from the growth of hair on the legs, weight gain which results in not being ideal, irregular menstruation, unusual acne growth, and oily skin. The problem of Polycystic Ovarian Syndrome can cause disturbances in ovulation and cause infertility in women. Urgency This research requires a classification that has good accuracy in diagnosing early to minimize the rate of pregnancy failure. The aim of the research is to be able to model early detection of Polycystic Ovarian Syndrome with high accuracy so that it can help the health team in detecting Polycystic Ovarian Syndrome or not having Polycystic Ovarian Syndrome. The research stage has 3 stages including the first stage of identifying problems and collecting datasets from Telkom University dataverse in the form of images and literature reviews of various sources. The second stage is Pre Processing of image data, Data Training, modeling design by managing image data and classifying using the Convolutional Neural Network Algorithm deep learning model and testing. The third stage is evaluating the test results and discussing the results of accuracy in determining the status of Normal Polycystic Ovarian Syndrome or PCOS. The results of training and validation on the ovarian xray image dataset using the CNN architecture that has been made, 40 iterations (epochs), and 4 step_per_epochs show an accuracy value of 0.8947 or 89.47% and a loss value of 0.2684.

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterised by multiple malformations. Due to its phenotypic heterogeneity and rarity, diagnosis and recognition of TBS can be challenging and there has been a lack of investigation of patients with atypical TBS in large cohorts and delineation of their phenotypic characteristics. We screened SALL1 and DACT1 variants using next-generation sequencing in the China Deafness Genetics Consortium (CDGC) cohort enrolling 20 666 unrelated hearing loss (HL) cases. Comprehensive clinical evaluations were conducted on seven members from a three-generation TBS family. Combining data from previously reported cases, we also provided a landscape of phenotypes and genotypes of patients with TBS. We identified five novel and two reported pathogenic/likely pathogenic (P/LP) SALL1 variants from seven families. Audiological features in patients differed in severity and binaural asymmetry. Moreover, previously undocumented malformations in the middle and inner ear were detected in one patient. By comprehensive clinical evaluations, we further provide evidence for the causal relationship between SALL1 variation and certain endocrine abnormalities. Penetrance analysis within familial contexts revealed incomplete penetrance among first-generation patients with TBS and a higher disease burden among their affected offspring. This study presents the first insight of genetic screening for patients with TBS in a large HL cohort. We broadened the phenotypic-genotypic spectrum of TBS and our results supported an underestimated prevalence of TBS. Due to the rarity and phenotypic heterogeneity of rare diseases, broader spectrum molecular tests, especially whole genome sequencing, can improve the situation of underdiagnosis and provide effective recommendations for clinical management.

Investigating the potential association between hypertension and cancer: unveiling onco-hypertension as an innovative concept

Hypertension and cancer show a possible association, with hypertension being a result of cancer and its treatments and also serving as a potential risk factor for the development of cancer. The term "onco-hypertension" describes the presence of hypertension in individuals who have been diagnosed with cancer. Among individuals with cancer, hypertension is the most common coexisting medical condition, occurring in 38% of cases. Cancer-related hypertension involves various mechanisms, including tumor-related factors, coexisting conditions, renal dysfunction, hormonal abnormalities, and stress-related inflammation. Cancer treatments like chemotherapy-targeted therapies and immunotherapies have the potential to influence the regulation of blood pressure through the renin-angiotensin-aldosterone system (RAAS), sodium balance, and fluid retention. Epidemiological studies suggest a potential link between hypertension and specific types of cancer, although the exact reasons and underlying mechanisms remain uncertain. Antihypertensive medications have varying associations with cancer risk. Diuretics are linked to renal cell carcinoma (RCC), thiazide medications to squamous cell carcinoma (SCC), and angiotensin-converting enzyme (ACE) inhibitors to a potential increased risk of lung cancer. However, studies on angiotensin receptor blockers (ARBs) show inconclusive results. Managing onco-hypertension may require pharmacological interventions in addition to lifestyle modifications. Antihypertensive medications commonly used include ACE inhibitors, ARBs, diuretics, calcium channel blockers, and beta-blockers. Factors such as overall health, cancer stage, concomitant medications, treatment interactions, efficacy, tolerability, and side effects guide medication selection.

Sinapic acid modulates oxidative stress and metabolic disturbances to attenuate ovarian fibrosis in letrozole-induced polycystic ovary syndrome SD rats.

Sinapic acid (SA) is renowned for its many pharmacological activities as a polyphenolic compound. The cause of polycystic ovary syndrome (PCOS), a commonly encountered array of metabolic and hormonal abnormalities in females, has yet to be determined. The present experiment was performed to evaluate the antifibrotic properties of SA in rats with letrozole-induced PCOS-related ovarian fibrosis. SA treatment successfully mitigated the changes induced by letrozole in body weight (BW) (p < .01) and relative ovary weight (p < .05). Histological observation revealed that SA reduced the number of atretic and cystic follicles (AFs) and (CFs) (p < .01), as well as ovarian fibrosis, in PCOS rats. Additionally, SA treatment impacted the serum levels of sex hormones in PCOS rats. Luteinizing hormone (LH) and testosterone (T) levels were decreased (p < .01, p < .05), and follicle-stimulating hormone (FSH) levels were increased (p < .05). SA administration also decreased triglyceride (TG) (p < .01) and total cholesterol (TC) levels (p < .05) and increased high-density lipoprotein cholesterol (HDL-C) levels (p < .01), thereby alleviating letrozole-induced metabolic dysfunction in PCOS rats. Furthermore, SA treatment targeted insulin resistance (IR) and increased the messenger RNA (mRNA) levels of antioxidant enzymes in the ovaries of PCOS rats. Finally, SA treatment enhanced the activity of peroxisome proliferator-activated receptor-γ (PPAR-γ), reduced the activation of transforming growth factor-β1 (TGF-β1)/Smads, and decreased collagen I, α-smooth muscle actin (α-SMA), and connective tissue growth factor (CTGF) levels in the ovaries of PCOS rats. These observations suggest that SA significantly ameliorates metabolic dysfunction and oxidative stress and ultimately reduces ovarian fibrosis in rats with letrozole-induced PCOS.

Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.

The genotype-phenotype relationship in PWS patients is important for a better understanding of the clinical phenotype and clinical characteristics of different genotypes of PWS in children. We aimed to explore the influence of specific gene changes on the clinical symptoms of PWS and the value of early screening and early intervention of the condition. All data in this study were extracted from the database of the XiaoPang Weili Rare Disease Care Center. The collected information included basic demographics, maternal pregnancy information, endocrine abnormalities, growth and development abnormalities, and other clinical phenotypes. The relationships between genotypes and phenotypes in the major categories of PWS were analyzed. A total of 586 PWS cases with confirmed molecular diagnosis and genotyping were included in this study. Among them, 83.8% belonged to the deletion type, 10.9% the uniparental disomy (UPD) type, and 5.3% the imprinting defect (ID) type. Age-wide comparison among the three groups: The rate of hypopigmentation in the deletion group was higher than that in the UPD group (88.8% vs. 60.9%; p < 0.05); A total of 62 patients (14.2%) had epilepsy; and no statistical significance was found among the three groups (p = 0.110). Age-wide comparison between the deletion and non-deletion types: the rate of skin hypopigmentation and epilepsy in the deletion group was significantly higher than that in the non-deletion group (88.8% vs. 68.4%, p < 0.001; 15.9% vs. 7.6%, p = 0.040). The intergroup comparison for the >2-year age group: there were significant intergroup differences in the language development delay among the three groups (p < 0.001). The incidence of delayed language development was the highest in the deletion group, followed by the UPD group, and the lowest in the ID group. The rates of obesity and hyperphagia in the deletion group were also higher than those in the non-deletion group (71.1% vs. 58.9%, p = 0.041; 75.7% vs. 62.0%, p = 0.016). There are significant differences in the rates of skin hypopigmentation and language developmental delay among the deletion, UPD, and ID genotypes. The patients with deletion type had significantly higher rates of lighter skin color, obesity, hyperphagia, language developmental delay, and epilepsy. The results of this study will help clinicians better understand the impact of different PWS molecular etiologies on specific phenotypes.

Oncological and endocrinological outcomes for children and adolescents with testicular and ovarian sex cord-stromal tumors. Results of the TGM13 National Registry.

Sex cord-stromal tumors (SCST) are hormonally active and rare. The aim was to describe their endocrinological presentation and outcomes. Patients (<19 years) registered in the TGM13 registry between 2014 and 2021 for SCST were selected. Sixty-three ovarian SCST (juvenile granulosa tumor (JGT) n=34, Sertoli-Leydig cell tumor (SLCT) n=17, other SCST n=12) were included. Median age was 13.1 years (0.4-17.4). Germline DICER1 pathogenic variant was present in 9/17 SLCT. Sixty-one were FIGO stage I (IC n=14). Adjuvant chemotherapy was administered for 15. Seven had recurrence (FIGO IA n=3, IX n=2, III n=2), leading to one death. With a median follow-up of 42 months (2.5-92), the 3-year progression-free survival (PFS) was 89% (95% CI 76%-95%). Median age was 6.4 years (0.1-12.9) among the 15 testicular SCST (Leydig cell tumor n=6, JGT n=5, Sertoli cell tumor n=3, mixed SCST n=1). Tumor-nodes-metastases (TNM) stage was pSI in 14. Eight underwent a tumorectomy, 7 an orchiectomy. None experienced recurrence. Endocrinological data were reviewed for 41 patients (18 prepubescent). Endocrine symptoms were present at diagnosis in 29/34 females and 2/7 males (gynecomastia). After a median follow-up of 11 months, 15 patients had persistent endocrine abnormalities: gynecomastia/breast growth (2 males, 1 prepubescent female), precocious/advanced puberty (4 prepubescent females), and hirsutism/menstruation disorders/voice hoarseness/hot flashes (8 pubescent females). The mean height at the last follow-up was within normal ranges (+0.3 standard deviation). SCSTs have a favorable prognosis. Tumorectomy appears safe with testicular primary. Endocrinological disorders, common at diagnosis, may persist warranting endocrinological follow-up.

Heme oxygenase 2 genetic variants alter hormonal and metabolic traits in polycystic ovary syndrome.

Oxidative stress and metabolic disorders are involved in the pathogenesis of polycystic ovary syndrome (PCOS). Heme oxygenase 2 (HMOX2) plays a critical role in preserving heme metabolism as well as in modulating glycolipid metabolism, oxidative stress, and inflammation. This study examined the correlation between HMOX2 G554A (rs1051308) and A-42G (rs2270363) genetic variants with the risk of PCOS and assessed the effects of these genotypes on clinical, hormonal, metabolic, and oxidative stress indices using a case-control design that included 1014 patients with PCOS and 806 control participants. We found that the allelic and genotypic frequencies of the HMOX2 G554A and A-42G polymorphisms were comparable between the PCOS and control groups in Chinese women (P > 0.05). Nevertheless, it was discovered that patients with the AA or AG genotype of A-42G polymorphism had notably elevated levels of estradiol (E2), follicle-stimulating hormone (FSH), luteinizing hormone (LH), LH/FSH ratio, high-density lipoprotein cholesterol (HDL-C), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), apolipoprotein (apo)B, and/or apoB/apoA1 ratio than those with the GG genotypes (P < 0.05). Patients with the GG or AG genotype of G554A polymorphism had elevated serum levels of LH, FSH, E2, LH/FSH ratio, TC, HDL-C, LDL-C, apoB, and/or apoB/apoA1 ratio and lower 2-h glucose concentration compared with those with the AA genotype (P < 0.05). Our findings indicate a potential association between the genetic variants and endocrine abnormalities in the reproductive system and metabolic irregularities in glycolipid levels in patients, thus suggesting their potential role in the pathogenesis of PCOS.

Thyroid function and epilepsy: a two-sample Mendelian randomization study.

Thyroid hormones (THs) play a crucial role in regulating various biological processes, particularly the normal development and functioning of the central nervous system (CNS). Epilepsy is a prevalent neurological disorder with multiple etiologies. Further in-depth research on the role of thyroid hormones in epilepsy is warranted. Genome-wide association study (GWAS) data for thyroid function and epilepsy were obtained from the ThyroidOmics Consortium and the International League Against Epilepsy (ILAE) Consortium cohort, respectively. A total of five indicators of thyroid function and ten types of epilepsy were included in the analysis. Two-sample Mendelian randomization (MR) analyses were conducted to investigate potential causal relations between thyroid functions and various epilepsies. Multiple testing correction was performed using Bonferroni correction. Heterogeneity was calculated with the Cochran's Q statistic test. Horizontal pleiotropy was evaluated by the MR-Egger regression intercept. The sensitivity was also examined by leave-one-out strategy. The findings indicated the absence of any causal relationship between abnormalities in thyroid hormone and various types of epilepsy. The study analyzed the odds ratio (OR) between thyroid hormones and various types of epilepsy in five scenarios, including free thyroxine (FT4) on focal epilepsy with hippocampal sclerosis (IVW, OR = 0.9838, p = 0.02223), hyperthyroidism on juvenile absence epilepsy (IVW, OR = 0.9952, p = 0.03777), hypothyroidism on focal epilepsy with hippocampal sclerosis (IVW, OR = 1.0075, p = 0.01951), autoimmune thyroid diseases (AITDs) on generalized epilepsy in all documented cases (weighted mode, OR = 1.0846, p = 0.0346) and on childhood absence epilepsy (IVW, OR = 1.0050, p = 0.04555). After Bonferroni correction, none of the above results showed statistically significant differences. This study indicates that there is no causal relationship between thyroid-related disorders and various types of epilepsy. Future research should aim to avoid potential confounding factors that might impact the study.

P-69 Beneficial outcomes of hypothyroidism treatment in atrial fibrillation patient

Abstract Introduction It is well established that hyperthyroidism is a strong independent risk factor for atrial fibrillation (AF). However, the relationship between hypothyroidism and AF is complex and not fully understood. The abnormal thyroid hormone levels can disrupt the electrical signals that regulate heart rhythm, potentially leading to AF. Some symptoms of hypothyroidism, such as fatigue, weakness, and shortness of breath, can mimic the symptoms of AF. This can make it challenging to diagnose AF in individuals with underlying thyroid issues. Meanwhile the treatment of hypothyroidism in A patient with AF can significantly improve the symptoms. Clinical Case A 54 years old female was referred to the Therapy department with fatigue and palpitations. She was diagnosed one year ago with paroxysmal tachysystolic atrial fibrillation. CHADSVASK-1, EHRA-3. She experienced paroxysmal episodes four to five times a month for which she took propafenone. At presentation echocardiography (ECHO) showed LVEDD-50, LVEDS-35, IVS-12, LVPW-11, LA-42, EF-57%. The blood sample revealed TSH-8.41 (reference range 0.3-4 mIU/l), free T4-1.15 (reference range 10-25 pmol/l), free T3-3.76 (reference range 2.5-5.8 pmol/l), AbTPO-1040 (reference range 2.5-30 IU/ml). On thyroid ultrasound examination dimensions of right lobe were 18 *23 * 39 mm, left lobe were 22*20*38 mm, isthmus 3.8 mm, and no nodules were present. Total thyroid volume was 19.5 mL. The gland had heterogeneous echotexture and normal vascularity. Treatment with levothyroxine 50 mcg was started. After 6 weeks of treatment with levothyroxine TSH improved to 3.8 mIU/l and patient's fatigue and palpitation symptoms significantly improved, and no new paroxysms were detected. Conclusion: Managing hypothyroidism through thyroid hormone replacement therapy can often help control and sometimes even reverse AF if the arrhythmia was related to thyroid dysfunction. However, some individuals, as in this case, may continue to have AF even after their thyroid levels are normalized. In this case we emphasize the importance of understanding the effect of hypothyroidism on AF.

Anthropometric, Metabolic, and Endocrine Parameters as Predictors of Estimated Average Glucose and Other Biomarkers of Dysglycemia in Women with Different Phenotypes of Polycystic Ovary Syndrome.

The aim of the study was to evaluate the efficacy of anthropometric, metabolic, and endocrine abnormalities as predictors of estimated average glucose and other biomarkers of dysglycemia in women with different phenotypes of polycystic ovary syndrome (PCOS). This cross-sectional study included 648 women with PCOS and 330 controls. A single protocol of investigation was applied for all subjects. PCOS women were divided by phenotypes according to the Rotterdam criteria. Biomarkers of dysglycemia were considered dependent variables and anthropometric, lipid, and hormone alterations as independent variables using univariate and multivariate logistic regressions. Univariate logistic regression analysis, controlled for age and BMI, showed that many biomarkers of dysglycemia could be predicted by anthropometric, lipid, and endocrine variables. Multivariate logistic models showed that in non-PCOS women estimated average glucose (eAG) was predicted by lower TSH levels (OR=0.39; p=0.045); fasting glucose was predicted by increased T (OR=2.3). For PCOS, phenotype A, eAG was predicted by decreased HDL-C (OR=0.17, p=0.023) and high levels of free estradiol (OR=7.1, p<0.001). Otherwise, in PCOS, phenotype D, eAG was predicted by higher levels of HDL-C. The current study demonstrated that eAG was poorly predicted by anthropometric, lipid, and hormone parameters. Nevertheless, without adding significant benefits, it was comparable with other established markers of dysglycemia in women with different PCOS phenotypes.

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders have previously been defined using cytogenetics for which only in the current genomic era the disease-causing genes have become elucidated. One such example is deletion at Xq22.2, previously associated with a neurodevelopmental disorder which has more recently been found to be caused by de novo loss-of-function variants in TCEAL1. So far, a single study reported six unrelated individuals with this monogenetic disorder, presenting with syndromic features including developmental delay especially affecting expressive speech, intellectual disability, autistic-like behaviors, hypotonia, gait abnormalities and mild facial dysmorphism, in addition to ocular, gastrointestinal, and immunologic abnormalities. Here we report on four previously undescribed individuals, including two adults, with de novo truncating variants in TCEAL1, identified through trio exome or genome sequencing, further delineating the phenotype of the TCEAL1-related disorder. Whereas overall we identify similar features compared to the original report, we also highlight features in our adult individuals including hyperphagia, obesity, and endocrine abnormalities including hyperinsulinemia, hyperandrogenemia, and polycystic ovarian syndrome. X chromosome inactivation and RNA-seq studies further provide functional insights in the molecular mechanisms. Together this report expands the phenotypic and molecular spectrum of the TCEAL1-related disorder which will be useful for counseling of newly identified individuals and their families.

Current research and future prospects of immunonutrition in gastrointestinal malignancies.

Immune nutrition, as an integral component of nutritional support therapy, has garnered significant attention and research in the treatment of gastrointestinal malignancies. Recent advancements in nutritional formulas containing components such as glutamine, omega-3 polyunsaturated fatty acids, and arginine have led to the development of what is now termed immune nutrition or pharmacological nutrition. These formulations go beyond traditional nutritional support, functioning more like nutritional supplements with pharmacological effects. Patients with gastrointestinal malignancies often experience malnutrition and metabolic disturbances, resulting in immune dysfunction, cytokine dysregulation, and endocrine abnormalities. These issues can compromise intestinal mucosal barrier function, affecting the efficacy and prognosis of anticancer therapies. Recent studies indicate that immune nutrition can modulate specific mechanisms involved in various immune and inflammatory pathways, thereby improving patients' immune status and treatment outcomes. While optimal patient selection, dosing, and timing of immune nutrition are still under investigation, its potential applications in oncology are promising. This article aims to analyze the existing evidence regarding the therapeutic benefits of immune nutrition in gastrointestinal malignancies, offering insights into its clinical standardization and application.

Endocrine Abnormalities and Their Relationship with Menstrual Irregularities: A Meta-analysis

Endocrine Abnormalities and Their Relationship with Menstrual Irregularities: A Meta-analysis

Proteomics profiling reveals lipid metabolism abnormalities during oogenesis in unexplained recurrent pregnancy loss.

Unexplained recurrent pregnancy loss (URPL) is a clinical dilemma in reproductive fields. Its diagnosis is mainly exclusionary after extensive clinical examination, and some of the patients may still face the risk of miscarriage. We analyzed follicular fluid (FF) from in vitro fertilization (IVF) in eight patients with URPL without endocrine abnormalities or verifiable causes of abortion and eight secondary infertility controls with no history of pregnancy loss who had experienced at least one normal pregnancy and delivery by direct data-independent acquisition (dDIA) quantitative proteomics to identify differentially expressed proteins (DEPs). In this study, bioinformatics analysis was performed using online software including g:profiler, String, and ToppGene. Cytoscape was used to construct the protein-protein interaction (PPI) network, and ELISA was used for validation. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis showed that the DEPs are involved in the biological processes (BP) of complement and coagulation cascades. Apolipoproteins (APOs) are key proteins in the PPI network. ELISA confirmed that APOB was low-expressed in both the FF and peripheral blood of URPL patients. Dysregulation of the immune network intersecting coagulation and inflammatory response is an essential feature of URPL, and this disequilibrium exists as early as the oogenesis stage. Therefore, earlier intervention is necessary to prevent the development of URPL. Moreover, aberrant lipoprotein regulation appears to be a key factor contributing to URPL. The mechanism by which these factors are involved in the complement and coagulation cascade pathways remains to be further investigated, which also provides new candidate targets for URPL treatment.

Supplementation with Lactobacillus helveticus NS8 alleviated behavioral, neural, endocrine, and microbiota abnormalities in an endogenous rat model of depression.

Major depressive disorder is a condition involving microbiota-gut-brain axis dysfunction. Increasing research aims to improve depression through gut microbiota regulation, including interventions such as probiotics, prebiotics, and fecal microbiota transplants. However, most research focuses on exogenous depression induced by chronic stress or drugs, with less attention given to endogenous depression. Additionally, research on gut mycobiota in depression is significantly less than that on gut bacteria. In the present study, Wistar-Kyoto rats were used as an endogenous depression and treatment-resistant depression model, while Wistar rats served as controls. Differences between the two rat strains in behavior, gut bacteria, gut mycobiota, nervous system, endocrine system, immune system, and gut barrier were evaluated. Additionally, the effects of Lactobacillus helveticus NS8 supplementation were investigated. Wistar-Kyoto rats demonstrated increased depressive-like behaviors in the forced swimming test, reduced sucrose preference in the sucrose preference test, and decreased locomotor activity in the open field test. They also exhibited abnormal gut bacteria and mycobiota, characterized by higher bacterial α-diversity but lower fungal α-diversity, along with increased butyrate, L-tyrosine, and L-phenylalanine biosynthesis from bacteria. Furthermore, these rats showed dysfunction in the microbiota-gut-brain axis, evidenced by a hypo-serotonergic system, hyper-noradrenergic system, defective hypothalamic-pituitary-adrenal axis, compromised gut barrier integrity, heightened serum inflammation, and diminished gut immunity. A 1-month L. helveticus NS8 intervention increased the fecal abundance of L. helveticus; reduced the abundance of Bilophila and Debaryomycetaceae; decreased immobility time but increased climbing time in the forced swimming test; reduced hippocampal corticotropin-releasing hormone levels; decreased hypothalamic norepinephrine levels; increased hippocampal glucocorticoid receptor, brain-derived neurotrophic factor dopamine, and 5-hydroxyindoleacetic acid content; and improved the gut microbiota, serotonergic, and noradrenergic system. The depressive phenotype of Wistar-Kyoto rats is not only attributed to their genetic context but also closely related to their gut microbiota. Abnormal gut microbiota and a dysfunctional microbiota-gut-brain axis play important roles in endogenous depression, just as they do in exogenous depression. Supplementing with probiotics such as L. helveticus NS8 is likely a promising approach to improve endogenous depression and treatment-resistant depression.