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Science Progress 2021To explore the clinical features, imaging findings, and pathological manifestations of ovarian Sertoli-Leydig cell tumors (SLCTs). The clinical and pathological...
To explore the clinical features, imaging findings, and pathological manifestations of ovarian Sertoli-Leydig cell tumors (SLCTs). The clinical and pathological manifestations, tumor location, size, morphology, vascularity, computed tomography (CT) density, magnetic resonance imaging (MRI) signal intensity, and contrast enhancement patterns in five cases with SLCTs were retrospectively reviewed. SLCTs most commonly occurred in young women. Virilization was observed in three cases (60%). All five tumors were unilateral and oval or round, with a clear boundary. The solid part of the tumor was isoattenuated on the conventional CT scan, and showed isoattenuation or slight hypoattenuation relative to adjacent myometrium on T1 weighted imaging (T1WI) and T2 weighted imaging (T2WI). On contrast-enhanced images, three tumors showed marked enhancement. DICER1 hotspot mutations were commonly seen in SLCTs. A highly vascularized mass with low signal intensity (SI) of the solid part on T2WI and androgen overproduction symptoms may suggest an SLCT.
Topics: DEAD-box RNA Helicases; Female; Humans; Mutation; Ovarian Neoplasms; Retrospective Studies; Ribonuclease III; Sertoli-Leydig Cell Tumor; Virilism
PubMed: 33848213
DOI: 10.1177/00368504211009668 -
Archives of Gynecology and Obstetrics Jan 2021Elevated concentrations of circulating testosterone are present in hyperreactio luteinalis (HL), a pregnancy-specific, self-limited condition. HL is associated with...
BACKGROUND
Elevated concentrations of circulating testosterone are present in hyperreactio luteinalis (HL), a pregnancy-specific, self-limited condition. HL is associated with maternal virilization in about 30% of cases. The correlation between testosterone levels and maternal virilization has not yet been quantified. Our aim was to identify a testosterone cut-off level which may allow to predict maternal virilization.
METHODS
A literature research was performed. Publications were chosen if serum testosterone concentrations and presence or absence of maternal virilization was mentioned. Additionally, we report serial levels of steroids analyzed by Liquid chromatography-tandem mass spectrometry (LC-MS/MS) in one case of HL managed at our institution.
RESULTS
In all, 31 cases fulfilled the search criteria. We found significant overlap between testosterone levels in asymptomatic women and women with signs of virilization (range 6.2-37.3 nmol/l and 13.7-197.5 nmol/l, respectively). The method applied for testosterone analysis was mentioned in three reports only. Peak serum testosterone concentration in our case was 120.3 nmol/l.
CONCLUSION
From the available data, maternal virilization in HL cannot be predicted by the level of circulating testosterone. However, comparability of results is hampered by the analytical methods applied. LC-MS/MS should preferably be used for reporting concentrations of circulating testosterone.
Topics: Adult; Chromatography, Liquid; Female; Humans; Ovarian Cysts; Pregnancy; Pregnancy Complications; Tandem Mass Spectrometry; Testosterone; Virilism
PubMed: 32815025
DOI: 10.1007/s00404-020-05745-6 -
Epigenetics Dec 2023Research suggests that polycystic ovary syndrome (PCOS) traits (e.g., hyperandrogenism) may create a suboptimal intrauterine environment and induce epigenetic...
Research suggests that polycystic ovary syndrome (PCOS) traits (e.g., hyperandrogenism) may create a suboptimal intrauterine environment and induce epigenetic modifications. Therefore, we assessed the associations of PCOS traits with neonatal DNA methylation (DNAm) using two independent cohorts. DNAm was measured in both cohorts using the Infinium MethylationEPIC array. Multivariable robust linear regression was used to determine associations of maternal PCOS exposure or preconception testosterone with methylation β-values at each CpG probe and corrected for multiple testing by false-discovery rate (FDR). In the birth cohort, 12% (102/849) had a PCOS diagnosis (8.1% PCOS without hirsutism; 3.9% PCOS with hirsutism). Infants exposed to maternal PCOS with hirsutism compared to no PCOS had differential DNAm at cg02372539 [β(SE): -0.080 (0.010); FDR = 0.009], cg08471713 [β(SE):0.077 (0.014); FDR = 0.016] and cg17897916 [β(SE):0.050 (0.009); FDR = 0.009] with adjustment for maternal characteristics including pre-pregnancy BMI. PCOS with hirsutism was also associated with 8 differentially methylated regions (DMRs). PCOS without hirsutism was not associated with individual CpGs. In an independent preconception cohort, total testosterone concentrations were associated with 3 DMRs but not with individual CpGs, though the top quartile of testosterone compared to the lowest was marginally associated with increased DNAm at cg21472377 near an uncharacterized locus (FDR = 0.09). Examination of these probes and DMRs indicate they may be under foetal genetic control. Overall, we found several associations among newborns exposed to PCOS, specifically when hirsutism was reported, and among newborns of women with relatively higher testosterone around conception.
Topics: Pregnancy; Infant; Humans; Infant, Newborn; Female; Polycystic Ovary Syndrome; Hirsutism; DNA Methylation; Hyperandrogenism; Testosterone
PubMed: 37992405
DOI: 10.1080/15592294.2023.2282319 -
Advances in Laboratory Medicine Nov 202146,XY differences/disorders of sex development (DSD) involve an abnormal gonadal and/or genital (external and/or internal) development caused by lack or incomplete... (Review)
Review
The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): III) Biochemical and genetic markers in the 46,XYIV) Proposals for the differential diagnosis of DSD.
OBJECTIVES
46,XY differences/disorders of sex development (DSD) involve an abnormal gonadal and/or genital (external and/or internal) development caused by lack or incomplete intrauterine virilization, with or without the presence of Müllerian ducts remnants.
CONTENT
Useful biochemical markers for differential diagnosis of 46,XY DSD include hypothalamic-pituitary-gonadal hormones such as luteinizing and follicle-stimulating hormones (LH and FSH; in baseline or after LHRH stimulation conditions), the anti-Müllerian hormone (AMH), inhibin B, insulin-like 3 (INSL3), adrenal and gonadal steroid hormones (including cortisol, aldosterone, testosterone and their precursors, dihydrotestosterone and estradiol) and the pituitary ACTH hormone. Steroid hormones are measured at baseline or after stimulation with ACTH (adrenal hormones) and/or with HCG (gonadal hormones).
SUMMARY
Different patterns of hormone profiles depend on the etiology and the severity of the underlying disorder and the age of the patient at diagnosis. Molecular diagnosis includes detection of gene dosage or copy number variations, analysis of candidate genes or high-throughput DNA sequencing of panels of candidate genes or the whole exome or genome.
OUTLOOK
Differential diagnosis of 46,XX or 46,XY DSD requires a multidisciplinary approach, including patient history and clinical, morphological, imaging, biochemical and genetic data. We propose a diagnostic algorithm suitable for a newborn with DSD that focuses mainly on biochemical and genetic data.
PubMed: 37360892
DOI: 10.1515/almed-2021-0043 -
Journal of Women's Health (2002) Nov 2021Hirsutism is the most common clinical symptom of hyperandrogenism, but racial and ethnic-specific thresholds have not been established. Our objective was to...
Hirsutism is the most common clinical symptom of hyperandrogenism, but racial and ethnic-specific thresholds have not been established. Our objective was to characterize hirsutism using self-report of hair growth in a large sample of African American women. The Study of Environment, Lifestyle, and Fibroids is a prospective community-based cohort study of African American women (23-34 at recruitment). A total of 1568 participants received the modified Ferriman-Gallwey (mFG) pictorial assessment and were asked if they were ever bothered by excess hair. We estimated the prevalence of hirsutism (mFG score ≥8) and associations of acne, polycystic ovary syndrome (PCOS), and menstrual cycle characteristics with hirsutism. We also explored hirsutism defined by the 95th percentile of scores in our cohort (mFG = 11) and a newly recommended criterion, mFG = 4. We could determine hirsutism status in 1556 women. Thirty-seven percent reported being bothered by excess hair, and 10% met the mFG criterion for hirsutism. History of severe facial acne was positively associated with hirsutism (prevalence ratio: 1.90; 95% confidence interval [CI]: 1.30-2.76), as was physician-diagnosed PCOS (2.22, 95% CI: 1.30-3.81). Women with irregular menstrual cycles were also more likely to report hirsutism (1.78, 95% CI: 1.00-3.18). Results were similar using mFG ≥11 and attenuated using mFG ≥4. Hirsutism prevalence was 10% in this community sample of African American women and was associated with PCOS, severe acne, and irregular menstrual cycles suggesting this represented hirsutism caused by hyperandrogenism. Ethnically diverse, population-based studies assessing the association between mFG score and androgen levels are needed to better understand the hirsutism threshold as a clinical marker of hyperandrogenism.
Topics: Adult; Black or African American; Cohort Studies; Female; Hirsutism; Humans; Polycystic Ovary Syndrome; Prevalence; Prospective Studies
PubMed: 34520248
DOI: 10.1089/jwh.2021.0125 -
BMC Endocrine Disorders Feb 2023Considering the high prevalence of polycystic ovary syndrome (PCOS) in women of reproductive age and the metabolic disorders associated with it, this study was conducted... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Considering the high prevalence of polycystic ovary syndrome (PCOS) in women of reproductive age and the metabolic disorders associated with it, this study was conducted to determine the effects of curcumin on metabolic indices and androgen level (primary outcomes), and menstruation characteristics, and hirsutism (secondary outcomes) in women with PCOS.
METHODS
This triple-blind randomized controlled trial was conducted on women with PCOS who visited the health centers at Eslamshahr County (Tehran Province-Iran) from 2020 to 2022. The participants were allocated into two groups (curcumin and placebo) using block randomization method. The treatment group received two 500 mg edible curcumin tablets together at the same time per day for twelve weeks while the control group received placebo tablets similar to curcumin. Biochemical parameters such as Fasting Blood Insulin (FBI), Fasting Blood Sugar (FBS), triglyceride, total cholesterol, Low Density Lipoprotein- cholesterol (LDL-C), High Density Lipoprotein- cholesterol (HDL-C) were measured before intervention and then 3 months after the intervention. Sex Hormone Binding Globulin (SHBG) and testosterone serum levels were measured 3 months after the intervention. Questionnaires regarding the menstrual cycle characteristics and the Ferriman-Gallwey score were also filled for evaluating hirsutism before the intervention as well as 3 months after the intervention. The independent t-test, Mann-Whitney U test, and ANCOVA were used to analyze the data.
RESULTS
There was no statistically significant difference between the two groups in terms of socio-demographic and the baseline levels of measured outcomes. After 12 weeks of intervention, the mean serum FBS levels in the curcumin group were significantly lower than in the placebo group (mean difference: 6.24; 95%confidence interval: -11.73 to -0.76; P = 0.027) but there was no significant difference between the two groups in terms of triglyceride (P = 0.351), cholesterol (P = 0.528), LDL (P = 0.064), HDL (P = 0.306), FBI (p = 0.929), SHBG (p = 0.682), and testosterone (p = 0.133) serum levels. After the intervention, amenorrhea and oligomenorrhea frequency in the curcumin group was significantly lower than in the placebo group (13% vs. 22%, P = 0.038). There was no significant difference in terms of duration of menstruation (P = 0.286) and hirsutism (P = 0.630) between the two groups.
CONCLUSION
Curcumin decreased FBS levels and improved menstruation characteristics (amenorrhea, oligomenorrhea, and menstrual irregularities) in women with PCOS but did not affect other metabolic, hormonal, and hirsutism indices. More studies using a larger sample size are required for a definitive conclusion.
TRIAL REGISTRATION
Iranian Registry of Clinical Trials (IRCT): IRCT20120718010324N51 Date of registration: 30/11/2019. URL: https://en.irct.ir/user/trial/40597/view ; Date of first registration: 30/11/2020.
Topics: Female; Humans; Polycystic Ovary Syndrome; Hirsutism; Androgens; Curcumin; Amenorrhea; Oligomenorrhea; Iran; Testosterone; Triglycerides; Cholesterol; Cholesterol, LDL
PubMed: 36788534
DOI: 10.1186/s12902-023-01295-5 -
International Braz J Urol : Official... 202146,XX Congenital adrenal hyperplasia (CAH) remains the first cause of genital virilization and current surgical techniques aim to restore female aspect of genitalia...
INTRODUCTION
46,XX Congenital adrenal hyperplasia (CAH) remains the first cause of genital virilization and current surgical techniques aim to restore female aspect of genitalia while preserving dorsal neurovascular bundle but not at the expense of not preserving erectile tissue. We aim to report our experience with a new surgical technique for clitoroplasty, completely preserving corporeal bodies, neurovascular bundles without dismembering the clitoris, in four patients with over a year follow up.
MATERIALS AND METHODS
After IRB approval four patients with 46,XX CAH and Prader 5 and 3 external genitalia, underwent feminizing genitoplasty. Complete preservation of erectile tissue was accomplished without a need to dissect dorsal neurovascular bundle. Glans size allowed no need for glanular reduction and there was no need to dismember the corporeal bodies.
RESULTS
Four patients 12 to 24-months-old underwent complete corporeal preservation clitoroplasty (CCPC), mean age was 18.5 months, mean follow up was 10.25 months. Vaginoplasty was performed in all patients with partial urogenital mobilization (PUM) and Urogenital Sinus flap (UF), only one severely virilized patient required a parasagittal pre-rectal approach to mobilize the vagina. We had no complications until last follow up.
CONCLUSION
To our knowledge, we are introducing the concept of CCPC without the need of disassembling the corporeal bodies, neurovascular bundle and glans. It stands as a new alternative for feminizing genitoplasty with complete preservation of erectile tissue and no dissection of neurovascular bundle. Although there is still lacking long-term follow-up, it represents a new step in conservative reconfiguration of the external virilized female genitalia.
Topics: Child, Preschool; Female; Humans; Infant; Adrenal Hyperplasia, Congenital; Clitoris; Genitalia, Female; Plastic Surgery Procedures; Surgical Flaps; Vagina; Virilism
PubMed: 33848081
DOI: 10.1590/S1677-5538.IBJU.2020.0839 -
Journal of Ayub Medical College,... 2021One of the leading causes of infertility in child bearing age females is polycystic ovary syndrome. It is characterized by altered hormonal profile causing androgen...
BACKGROUND
One of the leading causes of infertility in child bearing age females is polycystic ovary syndrome. It is characterized by altered hormonal profile causing androgen excess and insulin resistance which eventually leads to decreased ovulation rate.
METHODS
This was a crosssectional study that included 40 polycystic ovary syndrome (PCOS) patients and 40 infertility patients that did not have polycystic ovary syndrome determined by sonography and clinical features through quota sampling technique. Serum Total Testosterone and Sex Hormone Binding Globulin Levels were assayed. Using these two parameters, Free Androgen Index was calculated. Body Mass Index and central obesity was also determined.
RESULTS
Total Testosterone, Free Androgen Index and Body Mass Index were raised in PCOS group as indicated by p-value <0.05. Hirsutism was present in PCOS group (p-value <0.05). Sex Hormone Binding Globulin Levels were decreased in PCOS patients (p-value <0.05) but were within the lower half of normal range.
CONCLUSIONS
Levels of Sex Hormone Binding Globulin were decreased in PCOS cases and Free Androgen Index can help in better determining hyperandrogenaemia than total testosterone alone.
Topics: Androgens; Body Mass Index; Female; Hirsutism; Humans; Hyperandrogenism; Infertility; Polycystic Ovary Syndrome; Testosterone
PubMed: 35124911
DOI: No ID Found -
Metabolic Surgery on Patients With Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis.Frontiers in Endocrinology 2022Polycystic ovary syndrome (PCOS) is a complicated reproductive endocrine disease that is closely related to obesity. Metabolic surgery ameliorates a series of clinical... (Meta-Analysis)
Meta-Analysis
UNLABELLED
Polycystic ovary syndrome (PCOS) is a complicated reproductive endocrine disease that is closely related to obesity. Metabolic surgery ameliorates a series of clinical manifestations and related comorbidities of PCOS. However, the overall efficacy of metabolic surgery on PCOS remains uncertain. This systematic review and meta-analysis aimed to evaluate the therapeutic effects of metabolic surgery on obese patients with PCOS. A systematic literature search for relevant studies was conducted on PubMed, Embase, Web of Science, and the Cochrane Library from inception to June 2021. Data extraction and quality evaluation were performed by three researchers, and RevMan 5.4 software was used to conduct the meta-analysis. A total of 14 studies involving 501 obese patients with PCOS were included. Incidence of PCOS in obese women ranged from 5.5% to 63.5% among the included studies. The results showed the incidence of abnormal menstruation decreased from 81% to 15% (OR=0.03, 95% confidence interval (CI): 0.01-0.08), while the incidence of hirsutism dropped from 71% to 38% (OR=0.21, 95% CI: 0.06-0.74). Serum total testosterone and free testosterone levels decreased by 25.92 ng/dL (MD = -25.92, 95% CI: -28.90- -22.93) and 2.28 ng/dL (SMD = -2.28, 95% CI: -3.67- -0.89), respectively. Sex hormone-binding globulin (SHBG) levels increased by 26.46 nmol/L (MD = 26.46, 95% CI: 12.97-39.95). Serum anti-Mullerian hormone (AMH) levels decreased by 1.29 ng/mL (MD = -1.29, 95% CI: -1.92- -0.66). Small sample size studies revealed that pregnancy rates ranged from 95.2% to 100% postoperatively. Metabolic surgery contributed to marked improvement of abnormal menstruation, hirsutism, and levels of free testosterone, total testosterone, SHBG, and AMH in patients with PCOS. Our findings indicate that patients with PCOS are expected to benefit from metabolic surgery, and could help potentially improve their reproductive outcomes. Metabolic surgery could thus be a new viable option for the clinical treatment of PCOS.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO https://www.crd.york.ac.uk/PROSPERO/, identifier CRD42021251524.
Topics: Anti-Mullerian Hormone; Bariatric Surgery; Female; Hirsutism; Humans; Obesity; Polycystic Ovary Syndrome
PubMed: 35360056
DOI: 10.3389/fendo.2022.848947 -
Scientific Reports Nov 2022Vitamin E supplementation might have favorable effects on risk factors of polycystic ovary syndrome (PCOS). This systematic review and meta-analysis aimed to summarize... (Meta-Analysis)
Meta-Analysis
Vitamin E supplementation might have favorable effects on risk factors of polycystic ovary syndrome (PCOS). This systematic review and meta-analysis aimed to summarize the effects of vitamin E supplementation or vitamin E in combination with omega-3 or magnesium on PCOS. PubMed, Scopus, ISI Web of Science, Cochrane, Embase electronic databases, and Google scholar were searched for all available articles up to September 2022. Randomized controlled trials (RCTs) that examined the effect of vitamin E supplementation or vitamin E in combination with omega-3 or magnesium on lipid and glycemic profiles, anthropometric measurements, biomarkers of inflammation and oxidative stress, hormonal profile, and hirsutism score in patients with PCOS were included. Ten RCTs (with 504 participants) fulfilled the eligible criteria. Vitamin E supplementation or vitamin E in combination with omega-3 or magnesium in comparison to placebo could significantly reduce serum levels of TG (weighted mean difference: - 18.27 mg/dL, 95% CI - 34.68 to - 1.87), VLDL (- 5.88 mg/dL, 95% CI - 8.08 to - 3.68), LDL-c (- 12.84 mg/dL, 95% CI - 22.15 to - 3.52), TC (- 16.30 mg/dL, 95% CI - 29.74 to - 2.86), TC/HDL-c ratio (- 0.52, 95% CI - 0.87 to - 0.18), hs-CRP (- 0.60 ng/mL, 95% CI - 0.77 to - 0.44), hirsutism score (- 0.33, 95% CI - 0.65 to - 0.02) and significantly increase nitric oxide levels (2.79 µmol/L, 95% CI 0.79-4.79). No significant effect was found on HDL-c, glycemic indices, hormonal profile, anthropometric measurements, and other biomarkers of inflammation or oxidative stress. This meta-analysis highlights the potential anti-hyperlipidemic, anti-oxidant, and anti-inflammatory properties of vitamin E supplementation alone or in combination with omega-3 or magnesium on PCOS patients.
Topics: Humans; Female; Magnesium; Polycystic Ovary Syndrome; Hirsutism; Dietary Supplements; Fatty Acids, Omega-3; Vitamin E; Biomarkers; Inflammation; Antioxidants
PubMed: 36402830
DOI: 10.1038/s41598-022-24467-0