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Annales D'endocrinologie Feb 2024Aromatase deficiency is a rare disorder, with only a few cases reported in India. We describe a single-center experience in western India, with a systematic review of...
BACKGROUND
Aromatase deficiency is a rare disorder, with only a few cases reported in India. We describe a single-center experience in western India, with a systematic review of genetically proven 46,XX aromatase deficiency patients to evaluate hormonal parameters.
METHODS
Retrospective review of case records, collating phenotypic and genotypic data and molecular modeling. Systematic review of 46,XX aromatase deficiency, analyzing data on gonadotropins, estrogen and androgens.
RESULTS
In the seven patients from our center, presentation was frequent in childhood or adolescence (4/7: delayed puberty or hyperandrogenism), with maternal virilization (4/7), predominance of Prader III/IV (5/7), and initial rearing as females (6/7). Three patients had hypoplastic ovaries. One patient had spontaneous regular menses. We report three novel (p.Arg115Pro, p.Arg192Pro, and c.145+1_145+4delins) and two recurrent variants (p.Val370Met, and c.145+1_145+4delins) in western and northern India, respectively. On systematic review (n=43), gonadotropins were elevated (FSH>LH) across ages (except preterm infants), androgens were elevated in about one-third of cases during childhood and puberty, and estradiol was lower than in controls in mini-puberty and puberty. Spontaneous thelarche and streak ovaries were significantly more frequent in patients with non-truncating and truncating variants, respectively.
CONCLUSION
We report uncommon presentations with possible founder variants, and highlight hormonal parameters across ages. Serum FSH levels were elevated except in preterms, and can be used as a diagnostic marker.
Topics: Male; Infant; Female; Adolescent; Humans; Infant, Newborn; Infant, Premature; Gynecomastia; Androgens; Follicle Stimulating Hormone; Gonadotropins; Aromatase; Infertility, Male; Metabolism, Inborn Errors; 46, XX Disorders of Sex Development
PubMed: 37348676
DOI: 10.1016/j.ando.2023.05.010 -
Reproductive Sciences (Thousand Oaks,... Nov 2023While polycystic ovarian syndrome (PCOS) is one of the most common hormonal endocrine disorders among women of reproductive age, the psychosocial impact of PCOS has not... (Review)
Review
While polycystic ovarian syndrome (PCOS) is one of the most common hormonal endocrine disorders among women of reproductive age, the psychosocial impact of PCOS has not been evaluated across different quality of life (QoL) indicators. We rigorously analyzed available evidence pertaining to the psychosocial burden of PCOS in women of reproductive age and compared validated QoL scores of women with and without PCOS before and after treatment. We searched and considered publications from PubMed, PsychINFO, Embase, and Cochrane Library that evaluated the association between diagnosed PCOS and QoL by standardized and validated questionnaires at baseline and after treatment. Reviewers assessed the risk of bias using established Cochrane and Newcastle-Ottawa Scale guidelines. A total of 33 studies were included in the review: 14 randomized controlled trials and 19 observational studies. The 36-Item Short Form Survey and World Health Organization Quality of Life - BREF questionnaire both revealed that the diagnosis and life experience of PCOS had a disability score that was similar to or surpassed that of heart disease, diabetes mellitus, or breast cancer. QoL scores, associated with mental health issues, infertility, sexual dysfunction, obesity, menstrual disorder, and hirsutism, were lower at the baseline than after treatment in the majority of instruments measuring these variables in women with PCOS. PCOS is associated with significant psychosocial stress and reduced QoL across baseline measures and in comparison, to other diseases. Evidence suggests that treatment with therapy, medications, and lifestyle management decreased psychosocial burdens and alleviated QoL experienced by women with PCOS.
Topics: Female; Humans; Polycystic Ovary Syndrome; Quality of Life; Hirsutism; Infertility; Life Style
PubMed: 37341924
DOI: 10.1007/s43032-023-01285-x -
Trauma, Violence & Abuse Apr 2024Male experiences of domestic and relational violence have been only marginally explored in the literature. In connection to this, attitudes in the community and among... (Review)
Review
Male experiences of domestic and relational violence have been only marginally explored in the literature. In connection to this, attitudes in the community and among service providers and criminal justice system entities can vary dramatically. This variance in attitudes creates an instability which has a differential impact on the help-seeking behaviors of victims. Additionally, help-seeking behaviors are often influenced by internalized shame and confusion on the part of the survivors themselves when their social constructions of masculinity do not align with lived experience. More is needed to understand the nature of male survivorship in situations of relational violence. A systematic review was conducted to begin organizing the data on the topic. This review started with 15,547 peer-reviewed articles. Those were systematically narrowed to a total of 16 of the most recent pieces of empirical science on the topic. The final articles were thematically analyzed. Findings suggest (a) cultural stigma around constructions of masculinity, (b) fear of disclosure, and (c) negative experiences with criminal justice and support system responses, among the highest drivers for the disparate experience and hesitation to seek help.
Topics: Humans; Male; Help-Seeking Behavior; Domestic Violence; Social Stigma; Shame; Survivors; Intimate Partner Violence
PubMed: 37272373
DOI: 10.1177/15248380231177318 -
Trauma, Violence & Abuse Apr 2024Cybersexism in the context of online gaming communities, as epitomized by the Gamergate incident back in 2014, has been an issue for a while for gamer women, yet it has...
Cybersexism in the context of online gaming communities, as epitomized by the Gamergate incident back in 2014, has been an issue for a while for gamer women, yet it has not received proper attention. In this scoping review, we have aimed to assess its main characteristics, its consequences for gamer women, its triggers and predictors, and related prevention and mitigation policies provided by the existing research. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews (PRISMA-ScR) guidelines were applied to the design of the scoping review. Empirical studies were accessed via database searches. The following databases were prospected: Scopus, ProQuest, Web of Science, PsycINFO, PubMed, and ACM from March to May 2021. A total of 33 studies were included in the final analysis after database searching, filtering, and snowballing. Most of the selected studies (66%, = 22) were focused on the manifestations of cybersexism in gaming communities, with gender-driven trash-talking being the main one. The main drivers and triggers behind cybersexist behaviors were also the research topic in 66% ( = 22) of the studies and the consequences and coping strategies were studied in 52% ( = 17) of the articles. Furthermore, 12% ( = 4) of the studies assessed policies and actions to prevent cybersexism. Cybersexism and its manifestations are a reality that conditions gamer women, provoking avoidance and ultimately withdrawal from gaming and, therefore, creating inequality, impairing full digital citizenship, and widening the digital gender gap.
Topics: Humans; Antisocial Personality Disorder; Coping Skills; Databases, Factual; Empirical Research; Video Games; Sexism
PubMed: 37243440
DOI: 10.1177/15248380231176059 -
Archives of Sexual Behavior Oct 2023Sexual and dating violence (SDV) by male youth (≤ 25 years)-including sexual harassment, emotional partner violence, and rape-is a worldwide problem. The goal of...
Sexual and dating violence (SDV) by male youth (≤ 25 years)-including sexual harassment, emotional partner violence, and rape-is a worldwide problem. The goal of this preregistered (PROSPERO, ID: CRD42022281220) systematic review was to map existing SDV prevention programs aimed at male youth, including their characteristics (e.g., content, intensity), intended psychosexual outcomes, and empirically demonstrated effectiveness, guided by the principles of the theory of planned behavior (TPB). We conducted searches in six online databases for published, peer-reviewed quantitative effectiveness studies on multi-session, group focused, and interaction based SDV prevention programs for male youth ending March 2022. After screening of 21,156 hits using PRISMA guidelines, 15 studies on 13 different programs, from four continents were included. Narrative analysis showed, first, broad ranges in program intensity (2-48 h total), and few program curricula included explicit discussion of relevant aspects of the TPB. Second, programs' main intended psychosexual outcomes were to change SDV experiences, or related attitudes, or norms. Third, significant effects were found mostly on longer term behaviors and short-term attitudes. Other theoretical proxies of SDV experiences, such as social norms and perceived behavioral control, were sparsely investigated; thus, program effectiveness on these outcomes remains largely unknown. Assessed with the Cochrane Risk of Bias Tool, moderate to serious risk of bias arose in all studies. We present concrete suggestions for program content, such as explicit attention to victimization and masculinity and discuss best practices for evaluation research, including assessments of program integrity, and examining relevant theoretical proxies of SDV.
Topics: Humans; Male; Adolescent; Intimate Partner Violence; Rape; Sex Offenses; Violence; Sexual Harassment
PubMed: 37226034
DOI: 10.1007/s10508-023-02596-5 -
Frontiers in Endocrinology 2023Adult pure androgen-secreting adrenal tumors (PASATs) are extremely rare, and their characteristics are largely unknown.
BACKGROUND
Adult pure androgen-secreting adrenal tumors (PASATs) are extremely rare, and their characteristics are largely unknown.
METHODS
A rare case of adult bilateral PASATs was reported, and a systematic literature review of adult PASATs was conducted to summarize the characteristics of PASATs.
RESULTS
In total, 48 studies, including 40 case reports and 8 articles, were identified in this review. Analysis based on data of 42 patients (including current case and 41 patients from 40 case reports) showed that average age was 40.48 ± 15.80 years (range of 18-76). The incidence of adult PASAT peaked at 21-30 years old, while that of malignant PASAT peaked at 41-50 years old. Most PASAT patients were female (40/42, 95.23%), and hirsutism was the most common symptom (37/39, 94.87%). Testosterone (T) was the most commonly elevated androgen (36/42, 85.71%), and 26 of 32 tested patients presented increased dehydroepiandrosterone sulfate (DS) levels. In malignancy cases, disease duration was significantly decreased (1.96 vs. 4.51 years, P=0.025), and tumor diameter was significantly increased (8.9 vs. 4.9 cm, p=0.011). Moreover, the androgen levels, namely, T/upper normal range limit (UNRL) (11.94 vs. 4.943, P=0.770) and DS/UNRL (16.5 vs. 5.28, P=0.625), were higher in patients with malignancy. In total, 5 out of 7 patients showed an increase in DS or T in the human chorionic gonadotropin (HCG) stimulation test. Overall, 41 out of 42 patients (including current case) underwent adrenal surgery, and recurrence, metastasis, or death was reported in 5 out of 11 malignant patients even with adjuvant or rescue mitotane chemotherapy.
CONCLUSION
Adult PASAT, which is predominant in women, is characterized by virilism and menstrual dysfunction, especially hirsutism. Elevated T and DS may contribute to the diagnosis of adult PASAT, and HCG stimulation test might also be of help in diagnosis. Patients with malignant PASAT have a shorter disease duration, larger tumor sizes and relatively higher androgen levels. Surgery is recommended for all local PASATs, and Malignancy of PASAT should be fully considered due to the high risk of malignancy, poor prognosis and limited effective approaches.
Topics: Adult; Humans; Female; Adolescent; Young Adult; Middle Aged; Aged; Male; Androgens; Hirsutism; Adrenal Gland Neoplasms; Testosterone; Virilism
PubMed: 37033242
DOI: 10.3389/fendo.2023.1138114 -
F1000Research 2023: The rate of infertility is increasing day by day. According to studies conducted worldwide, 30 million men are diagnosed with infertility. Cases of infertility are...
: The rate of infertility is increasing day by day. According to studies conducted worldwide, 30 million men are diagnosed with infertility. Cases of infertility are often associated with a failure to become male in society. Procreation and gender roles are often closely linked so that infertile men are often considered the second sex. Sometimes, this condition makes men question their masculinity. : We performed a systematic review and metasynthesis with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline procedure on qualitative studies on ten databases exploring the experience of infertile men and their association with masculinity. : Twenty-four studies matched our question, and there are two major themes with eight subthemes that were obtained from the results of the metasynthesis of these studies. The impact of this gender issue is huge on men's health and their social interactions. As a result, gender issues provide a space for debate and a burden on men. Sometimes, men develop mental health problems. The topic of masculinity and infertility is at odds with feminism and is susceptible to the societal stigma that results from the hegemonic conception of masculinity. Interestingly, the men must accept reality and follow the treatment process for infertility, although it affects their psychological well-being. : These findings provide insight for physicians, as treating infertility requires a multidisciplinary team that does not only address procreation issues. Social issues related to gender roles often bring patients into harmful and dangerous conditions. To address the gender issue in men globally in several dimensions, however, a large study in various populations is still required.
Topics: Humans; Male; Masculinity; Infertility; Men's Health; Qualitative Research
PubMed: 37008892
DOI: 10.12688/f1000research.131599.1 -
Current Pharmaceutical Design 2023Spironolactone use as a treatment for hirsutism and other dermatological conditions among polycystic ovary syndrome (PCOS) and idiopathic hirsutism shows varied results. (Meta-Analysis)
Meta-Analysis
BACKGROUND
Spironolactone use as a treatment for hirsutism and other dermatological conditions among polycystic ovary syndrome (PCOS) and idiopathic hirsutism shows varied results.
OBJECTIVE
This study thus summarizes the entire evidence to better define its impact on Ferriman-Gallwey (FG) score in addition to other derangements associated with PCOS.
METHODS
PubMed, Embase, Scopus and bibliographies of relevant articles were searched. Randomized controlled trails (RCTs) investigating the efficacy of spironolactone in PCOS and idiopathic hirsutism were included. Pooled mean difference (MD) was calculated using random effects model and relevant subgroup analysis was done. Potential heterogeneity and publication bias was assessed.
RESULTS
Of 1041 retrieved studies, 24 RCTs were included. Spironolactone (100 mg/daily) exhibited a significant reduction in FG score in idiopathic hirsutism compared to finasteride (MD: -2.43; 95% C.I: -3.29, -1.57) and cyproterone acetate (MD: -1.18; 95% C.I: -2.10, -0.26), however, no significant difference was found among PCOS subjects in comparison to flutamide and finasteride. A lower dose of spironolactone (50 mg/day) exhibited no significant difference relative to metformin on FG Score (MD: -0.61; 95% C.I: -1.76, 0.54, I = 57%), serum total testosterone (MD: -0.61; 95% C.I: -1.76, 0.54), I = 57% and HOMA-IR (MD: 1.03; 95% C.I: -1.22, 3.29), I = 60% among PCOS women. The main side effects reported by the studies were menstrual irregularity, mild nausea, vomiting and diarrhea.
CONCLUSION
Spironolactone is well tolerated among idiopathic hirsute and PCOS women. The drug significantly improved hirsutism in the former group and shows a positive trend in the latter women, however, displays no effect on FSH, LH, menstrual cyclicity, BMI, and HOMA-IR in PCOS women.
Topics: Female; Humans; Polycystic Ovary Syndrome; Spironolactone; Hirsutism; Finasteride; Androgen Antagonists
PubMed: 36999713
DOI: 10.2174/1381612829666230331093912 -
Clinical Endocrinology Jul 2023As part of the update of the International Evidence-Based Guidelines for the Assessment and Management of polycystic ovary syndrome (PCOS), a systematic review was...
OBJECTIVE
As part of the update of the International Evidence-Based Guidelines for the Assessment and Management of polycystic ovary syndrome (PCOS), a systematic review was performed to inform evidence-based recommendations.
DESIGN
Systematic review. Only randomised controlled trial were included.
PATIENTS
Women with PCOS; the use of combined oral contraceptive pills (COCP) was compared with no medical treatment.
MEASUREMENTS
Outcomes were designed in collaboration with clinical experts, researchers, and consumers. Critical outcomes included hirsutism, irregular cycles, quality of life, body mass index (BMI), and weight.
RESULTS
1660 publications were identified, but only four studies were included. No studies could be combined for meta-analysis. COCP treatment improved cycle regularity compared with no medical treatment (100% vs. 0%, with low certainty of evidence). COCP showed no difference in improvement of hirsutism or BMI compared with placebo or lifestyle; a lower weight after COCP compared with no treatment (mean difference [MD] -8.0 (95% confidence interval, CI -11.67); -4.33 kg); and improvement in quality of life (MD 1.2 [95% CI 0.96]; 1.44), but these results were all very low certainty of evidence.
CONCLUSION
Results show that COCP benefit cycle regulation, but other benefits or potential adverse effects were only identified with very low certainty of evidence. The COCP is frontline medical treatment in PCOS, but this is still based on established efficacy in the broader general population. Our results show that research in PCOS is seriously lacking and should be prioritised to capture core reproductive, metabolic and psychological outcomes important in PCOS.
Topics: Female; Humans; Contraceptives, Oral, Combined; Hirsutism; Polycystic Ovary Syndrome; Quality of Life
PubMed: 36939017
DOI: 10.1111/cen.14913 -
Journal of Cosmetic Dermatology May 2023Despite existing several kinds of studies on idiopathic hirsutism (IH) and its association with metabolic disturbances, a limited number of studies have assessed lipid... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Despite existing several kinds of studies on idiopathic hirsutism (IH) and its association with metabolic disturbances, a limited number of studies have assessed lipid profiles in patients with IH with conflicting and inconclusive results. This study aimed to evaluate the lipid profiles in women with IH, compared to those of polycystic ovary syndrome (PCOS) and healthy controls.
MATERIALS AND METHODS
For this systematic review and meta-analysis, PubMed, Scopus, and EMBASE databases were searched to obtain studies published from inception to July 2021 investigating the lipid parameters, including triglyceride (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C) in women with IH, compared to control groups. A meta-regression and subgroup analysis were conducted to explore heterogeneity sources. Publication bias was assessed by the Egger test.
RESULTS
Of 209 studies retrieved through searching databases and other sources, a total of 12 studies including 3913 participants were included for the meta-analysis. This meta-analysis showed higher standardized mean difference (SMD) of TC (SMD: 0.09 mg/dl; 95% CI: 0.001, 0.18) and lower SMD of HDL-C (SMD: -0.10 mg/dl; 95% CI: -0.18, -0.02) in women with IH, compared to those of the healthy controls, whereas there were no significant differences in the SMDs of TG and LDL-C between the study groups. This study also revealed no difference in the levels of lipid profiles of women with IH in comparison with PCOS patients, except for TG (SMD: -0.24 mg/dl; 95% CI: -0.46, -0.02). The results of subgroup analysis based on the study design revealed no significant differences in the SMD of lipid parameters between women with IH and healthy controls. We also found no significant difference in the levels of lipid profiles of women with IH versus PCOS patients, except for HDL-C in the subgroup of case-control studies (SMD: 0.18 mg/dl; 95% CI: 0.01, 0.34).
CONCLUSION
This study demonstrated that the majority of lipid parameters were not significantly different in women with IH, compared to those of healthy and PCOS controls.
Topics: Humans; Female; Hirsutism; Cholesterol, LDL; Polycystic Ovary Syndrome; Triglycerides; Dyslipidemias; Cholesterol, HDL
PubMed: 36718809
DOI: 10.1111/jocd.15608