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OBJECTIVE: Spironolactone (SPL) has been used to manage hyperandrogenic manifestations in women with polycystic ovary syndrome (PCOS), but data on the risk of hyperkalemia in this population are scarce. The aim of this study was to evaluate the incidence of hyperkalemia in women with PCOS using SPL in the long term. DESIGN: Single-centre retrospective study. PATIENTS: Inclusion and analysis of 98 treatment periods in 78 women with PCOS (20 of whom were duplicates, returning after treatment interruption for a mean of 38 months) who received SPL for a minimum of 12 months and had at least three measurements of potassium levels over time. MEASUREMENTS: Clinical and hormonal profiles before and during SPL treatment. RESULTS: Mean age was 29.1 (SD: 9.6) years, and body mass index was 32.2 (SD: 8.1) kg/m². Nine patients had diabetes, and 22 had prediabetes. SPL was used in combination with combined oral contraceptive pills in 55 participants and progestin-only pills/long-acting reversible contraception in 28; metformin was added in 35, and angiotensin-converting enzyme inhibitors/angiotensin receptor blockers in 15. Median SPL dose was 100 (range: 50-150) mg. A total of 327 serum potassium measurements were obtained (84 pre-exposure and 243 postexposure). Four potassium measurements were above the reference range before exposure and 19 during exposure. All potassium measurements above the reference range during follow-up were classified as mild hyperkalemia (5.1-5.5 mEq/L). CONCLUSIONS: The present findings suggest that women with PCOS, without kidney or heart disease, using SPL combined with hormonal contraception for managing clinical hyperandrogenism have a low incidence of hyperkalemia and well-tolerated minor adverse effects.
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Hiperpotassemia , Síndrome do Ovário Policístico , Potássio , Espironolactona , Adulto , Feminino , Humanos , Hirsutismo , Hiperpotassemia/induzido quimicamente , Hiperpotassemia/complicações , Hiperpotassemia/tratamento farmacológico , Síndrome do Ovário Policístico/tratamento farmacológico , Potássio/sangue , Estudos Retrospectivos , Espironolactona/efeitos adversosRESUMO
OBJECTIVES: Hirsutism is a widespread condition affecting 5%-15% of females. Laser treatment of hirsutism has the best long-term effect. Patients with nonpigmented or nonterminal hairs are not eligible for laser treatment, and the current patient journey needed to establish eligibility for laser hair removal is problematic in many health-care systems. METHODS: In this study, we compared the ability to assess eligibility for laser hair removal of health-care professionals and convolutional neural network (CNN)-based models. RESULTS: The CNN ensemble model, synthesized from the outputs of five individual CNN models, reached an eligibility assessment accuracy of 0.52 (95% CI: 0.42-0.60) and a κ of 0.20 (95% CI: 0.13-0.27), taking a consensus expert label as reference. For comparison, board-certified dermatologists achieved a mean accuracy of 0.48 (95% CI: 0.44-0.52) and a mean κ of 0.26 (95% CI: 0.22-0.31). Intra-rater analysis of board-certified dermatologists yielded κ in the 0.32 (95% CI: 0.24-0.40) and 0.65 (95% CI: 0.56-0.74) range. CONCLUSION: Current assessment of eligibility for laser hair removal is challenging. Developing a laser hair removal eligibility assessment tool based on deep learning that performs on a par with trained dermatologists is feasible. Such a model may potentially reduce workload, increase quality and effectiveness, and facilitate equal health-care access. However, to achieve true clinical generalizability, prospective randomized clinical intervention studies are needed.
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Polycystic ovary syndrome (PCOS) and idiopathic hirsutism (IH) are androgen excess disorders requiring the determination of classic androgen levels for diagnosis. 11-oxygenated androgens have high androgenic potential, yet their clinical value in those disorders is not clear. Additionally, the role of endocrine disruptors (EDs), particularly in IH, remains understudied. We analyzed 25 steroids and 18 EDs in plasma samples from women with IH, PCOS, and controls using LC-MS/MS. Cytokine levels and metabolic parameters were assessed. Comparisons included non-obese women with PCOS (n = 10), women with IH (n = 12) and controls (n = 20), and non-obese versus obese women with PCOS (n = 9). Higher levels of 11-oxygenated androgens were observed in women with PCOS compared to those with IH, but not controls. Conversely, 11-oxygenated androgen levels were lower in women with IH compared to controls. Cytokine levels did not differ between women with IH and controls. Bisphenol A (BPA) levels were higher in obese women with PCOS compared to non-obese women with PCOS. Bisphenol S occurrence was higher in women with PCOS (90%) compared to controls (65%) and IH (50%). Significant correlations were found between androgens (11-ketotestosterone, androstenedione, testosterone) and insulin and HOMA-IR, as well as between immunomodulatory 7-oxygenated metabolites of DHEA and nine interleukins. Our data confirms that PCOS is a multiendocrine gland disorder. Higher BPA levels in obese women might exacerbate metabolic abnormalities. IH was not confirmed as an inflammatory state, and no differences in BPA levels suggest BPA does not play a role in IH pathogenesis.
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Androgênios , Disruptores Endócrinos , Hirsutismo , Síndrome do Ovário Policístico , Humanos , Feminino , Síndrome do Ovário Policístico/sangue , Síndrome do Ovário Policístico/metabolismo , Androgênios/sangue , Androgênios/metabolismo , Disruptores Endócrinos/sangue , Adulto , Hirsutismo/sangue , Hirsutismo/etiologia , Hirsutismo/induzido quimicamente , Obesidade/sangue , Obesidade/metabolismo , Citocinas/sangue , Citocinas/metabolismo , Espectrometria de Massas em Tandem , Compostos Benzidrílicos/sangue , Hiperandrogenismo/sangue , Fenóis , Adulto JovemRESUMO
OBJECTIVE: Polycystic ovary syndrome (PCOS) is identified as the most common endocrine disorder in reproductive-aged women, and symptoms of PCOS appear during the early pubertal age. There is a gap in knowledge in recognizing the status of gingival inflammation/periodontal destruction and high-sensitivity C-reactive protein levels (hsCRP) in adolescents versus adults with PCOS. This study aimed to observe the impact of PCOS on periodontal status and systemic inflammation in adolescents and compared them with adults with PCOS. METHODS: A total of 100 newly diagnosed female subjects with PCOS were enrolled into two groups: adolescents (11-19 years, n = 50) and adult females (20-40 years, n = 50). Periodontal parameters, anthropometric parameters, PCOS phenotype, hirsutism score, and serum hsCRP levels were recorded. RESULTS: High levels of mean hsCRP, gingival index, and bleeding on probing % were observed in adolescent and adult PCOS groups, though nonsignificant between the groups (p > 0.05). Significantly more sites with probing pocket depth 3-4 mm, higher mean clinical attachment level (CAL) and sites with CAL 1-2 mm, and high frequency of patients (n = 11) with periodontitis (stage 1) were observed in adults with PCOS compared to adolescents (p ≤ 0.05). Similar and predominant prevalence of PCOS phenotype A (66%) and moderate hirsutism (46% adolescents vs. 58% adults) were observed in both groups. CONCLUSION: Similar levels of hsCRP and periodontal inflammation were found in adolescents and adults with PCOS. More periodontal tissue destruction was observed in adults with PCOS as compared to adolescents with PCOS.
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OBJECTIVE: To examine the fear of negative evaluation as a predictor, and to explore the association of social anxiety with psychological correlates among women with polycystic ovaries. Methods: The cross-sectional study was conducted from August 2020 to November 2021 after approval form the University of Central Punjab, Lahore, Pakistan, and comprised unmarried women aged 18-26 diagnosed with polycystic ovary syndrome. The sample was raised from different clinics and hospitals based in Lahore and Gujranwala cities. The sample was divided into obese, hirsutism and acne vulgaris groups. Data was collected using a demographic proforma along with standardised Derriford Appearance Scale, Brief Fear of Negative Evaluation Scale, University of California, Los Angeles, Loneliness Scale and the Social Interaction Anxiety Scale. Data was analysed using SPSS 24. RESULTS: Of the 180 patients, 60(33.3%) were in each of the 3 groups. The overall mean age was 21.4+/-2.27 years. A significant association of fear of negative evaluation was found with appearance distress, social anxiety and loneliness (p<0.05). The fear of negative evaluation and appearance distress also significantly predicted loneliness in the subjects (p<0.01). The obese group scored significantly higher in terms of fear of negative evaluation and social anxiety compared to the other groups (p<0.05). Conclusion: Women with polycystic ovaries were found to be suffering from adverse psychological outcomes and social anxiety.
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Ansiedade , Obesidade , Síndrome do Ovário Policístico , Angústia Psicológica , Humanos , Feminino , Síndrome do Ovário Policístico/psicologia , Síndrome do Ovário Policístico/epidemiologia , Paquistão/epidemiologia , Estudos Transversais , Adulto Jovem , Adulto , Adolescente , Ansiedade/epidemiologia , Ansiedade/psicologia , Obesidade/psicologia , Obesidade/epidemiologia , Hirsutismo/psicologia , Hirsutismo/epidemiologia , Acne Vulgar/psicologia , Acne Vulgar/epidemiologia , Solidão/psicologia , Medo/psicologia , Fobia Social/psicologia , Fobia Social/epidemiologiaRESUMO
Background and Objectives: Polycystic ovary syndrome (PCOS) is a frequent and complex multidisciplinary disorder. Data regarding the role of genes involved in vitamin D metabolism in PCOS are as-yet elusive but suggest an association of VDR (vitamin D receptor) and vitamin D levels with metabolic, endocrine and cutaneous manifestations. The aim of this study was to evaluate the association between VDR gene polymorphisms and cutaneous manifestations, to find a correlation between hormonal parameters, oxidative stress and skin manifestations in women with PCOS, and to determine the impact of VDR gene polymorphisms on these parameters. Materials and Methods: This case-control study included 39 controls and 46 women with PCOS, matched by age and BMI distribution. Acne, hirsutism, seborrhea, androgenetic alopecia, oxidative stress and androgen hormones were recorded. VDR gene polymorphisms ApaI, FokI and TaqI were examined by polymerase chain reaction restriction fragment length polymorphism, and the androgen hormone (total testosterone, DHEAS), SHBG and malondialdehyde levels were assessed. Results: The most frequent skin manifestations in PCOS cases were acne followed by seborrhea, hirsutism and androgenic alopecia. The VDR-FokI polymorphism CC genotype had a significant protective role in the odds of acne (OR = 0.11, 95% CI: [0.02, 0.70], p = 0.015, p-corrected = 0.040) and seborrhea (OR = 0.15, 95% CI: [0.03, 0.75], p = 0.019, p-corrected = 0.039). The results demonstrated a significant protective effect of the C allele on the odds of acne and seborrhea in PCOS cases. Moreover, the dominant genotype of VDR-TaqI could have a protective role against oxidative stress (lower MDA levels) compared to patients carrying the TT genotype. Conclusions: In summary, this is the first study to demonstrate that the FokI CC genotype may have a protective role against both acne and seborrhea in women with PCOS, while the VDR-TaqI dominant genotype is associated with diminished oxidative stress in PCOS patients.
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Acne Vulgar , Estresse Oxidativo , Síndrome do Ovário Policístico , Receptores de Calcitriol , Humanos , Síndrome do Ovário Policístico/genética , Síndrome do Ovário Policístico/complicações , Síndrome do Ovário Policístico/sangue , Feminino , Receptores de Calcitriol/genética , Estresse Oxidativo/genética , Adulto , Estudos de Casos e Controles , Acne Vulgar/genética , Acne Vulgar/complicações , Polimorfismo Genético , Hirsutismo/genética , Hirsutismo/complicações , Hirsutismo/etiologia , Hirsutismo/sangue , Alopecia/genética , Adulto JovemRESUMO
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.
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Hiperandrogenismo , Infertilidade Feminina , Resistência à Insulina , Síndrome do Ovário Policístico , Humanos , Feminino , Síndrome do Ovário Policístico/complicações , Qualidade de Vida/psicologiaRESUMO
BACKGROUND: Polycystic ovary syndrome (PCOS) is a common chronic endocrine disorder in women with complex and poorly understood etiologies. The present study aimed to describe the clinical features of PCOS in a sample of Syrian women as well as the risk factors, associated comorbid diseases, and patterns and efficacy of treatment. METHODS: The present study is cross-sectional observational study conducted on a sample of Syrian women diagnosed with PCOS, using self-administered questionnaire during the period between December 25, 2023 and January 18, 2024. Overall, 1666 women with PCOS were recruited through online platforms. RESULTS: Higher frequency of PCOS was observed in young women aged 15-25 years (63.1%) and in single ladies (76.5%). The main chief complaints experienced by patients with PCOS were hirsutism (71.25%), irregular menstrual cycle (70.95%), depressed mood (53.9%), acne (49.52%), abdominal obesity (43.88%), alopecia (38.12%), and weight gain (34.57%). The most common risk factors observed in patients with PCOS were lack of physical exercise (76.4%), unhealthy food habits (51.6%), family history (38.5%), and history of taking anabolic steroids (17.2%). Comorbid diseases were found in 11.5% of PCOS patients. These diseases were hypothyroidism (5.7%), hypertension (3.06%), dyslipidemia (1.68%), heart diseases (1.56%), and diabetes mellitus (0.78%). Most patients were treated with oral contraceptive pills (82.11%) or metformin (64.83%). The efficacy of treatment was observed as complete cure in 430 patients (25.8%) and partial response alleviating symptoms in 819 patients (49.2%), while and no benefit was found in 417 patients (25%). CONCLUSIONS: PCOS is associated with widespread dermatological and metabolic aberrations that pose psychological burden on women and increase their risk for having comorbid diseases. Most patients with PCOS do not receive adequate therapy. Understanding the risk factors and clinical features for each patient is essential to choose the proper treatment.
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Síndrome do Ovário Policístico , Humanos , Feminino , Síndrome do Ovário Policístico/complicações , Síndrome do Ovário Policístico/epidemiologia , Adulto , Estudos Transversais , Adulto Jovem , Adolescente , Síria/epidemiologia , Fatores de Risco , Resultado do Tratamento , Comorbidade , Hirsutismo/epidemiologia , Inquéritos e QuestionáriosRESUMO
Objective: This study aimed to investigate the prevalence of Hirsutism by using the mFG score and to identify the mean mFG score among the normal healthy female population of Peshawar. Methods: A cross-sectional study was conducted among 448 normal healthy married women aged between 20 to 40 years from 14th April 2022 to 13th October 2022 at Hayatabad Medical Complex in Peshawar. The mFG score was used to evaluate Hirsutism, a score of eight or above was regarded as indicative of Hirsutism. Results: The mean modified Ferriman-Gallwey (mFG) score was 8.89 ± 4.33. 255 (56.9%) of the individuals had a mFG score of more than 8. These people showed mild hirsutism in 52.0% of cases, moderate hirsutism in 4.5% of cases, and severe hirsutism in 0.4% of cases. It was observed that the lower abdomen and thigh region had the highest prevalence of mild to moderate hirsutism, with a considerable number of individuals scoring two and three. Conversely, the back and buttocks showed predominantly minimal to no hirsutism, with the majority of participants scoring 0 and 1. There was no discernible difference in mean mFG scores between age groups, according to statistical analysis (p=0.195). Intriguingly, rates of hirsutism were found to be higher in urban versus rural populations, at 78.7% versus 36.6%, respectively (p<0.01). In addition, 80.3% of people who had a positive family history of hirsutism had a mFG score of 8 or higher. Conclusion: The prevalence of Hirsutism among the normal healthy female population based on the mFG score was relatively high.
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Background and Objective: Hirsutism is a common endocrine disorder and its etiology varies from benign and idiopathic disorders to serious malignant diseases. Hirsutism creates negative impact on quality of life and considerable effects on fertility. Our objective was to determine the various causes of hirsutism in women presenting at two endocrine clinics. Method: This cross-sectional study was conducted at Baqai Institute of Diabetology and Endocrinology, Karachi and at Jinnah hospital, Lahore from August 2020 to December 2021 women between 12-45 years of age with complains of hirsutism were included in the study. Severity of Hirsutism was evaluated using modified Ferriman-Gallwey score (FG). Patients with modified FG score of 8 or more were considered having hirsutism. Results: The study had 113 patients with a mean age of 15.50+7.29 years with 89% having moderate hirsutism (FG score 16-25). Polycystic ovaries was the most common cause of hirsutism. Common sites for hirsutism included back (83%), arms (74%), buttocks (70%), and upper abdomen (47%). High BMI (p-value <0.01) and high Dehydroepiandrosterone levels were positively associated with the severity of hirsutism (p-value of 0.006.). Conclusion: The various causes of hirsutism identified were polycystic ovaries, followed by idiopathic, thyroid dysfunction, congenital adrenal hyperplasia, and hyperprolactinemia; therefore, all women presenting with hirsutism should be evaluated for potential serious and curable etiologies, before embarking on a treatment plan.
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STUDY QUESTION: Can a combination of metabolomic signature and machine learning (ML) models distinguish nonclassic 21-hydroxylase deficiency (NC21OHD) from polycystic ovary syndrome (PCOS) without adrenocorticotrophic hormone (ACTH) testing? SUMMARY ANSWER: A single sampling methodology may be an alternative to the dynamic ACTH test in order to exclude the diagnosis of NC21OHD in the presence of a clinical hyperandrogenic presentation at any time of the menstrual cycle. WHAT IS KNOWN ALREADY: The clinical presentation of patients with NC21OHD is similar with that for other disorders of androgen excess. Currently, cosyntropin stimulation remains the gold standard diagnosis of NC21OHD. STUDY DESIGN, SIZE, DURATION: The study was designed using a bicentric recruitment: an internal training set included 19 women with NC21OHD and 19 controls used for developing the model; a test set included 17 NC21OHD, 72 controls and 266 PCOS patients used to evaluate the performance of the diagnostic strategy thanks to an ML approach. PARTICIPANTS/MATERIALS, SETTING, METHODS: Fifteen steroid species were measured in serum by liquid chromatography-mass spectrometry (LC-MS/MS). This set of 15 steroids (defined as 'steroidome') used to map the steroid biosynthesis pathway was the input for our models. MAIN RESULTS AND THE ROLE OF CHANCE: From a single sample, modeling involving metabolic pathway mapping by profiling 15 circulating steroids allowed us to identify perfectly NC21OHD from a confounding PCOS population. The constructed model using baseline LC-MS/MS-acquired steroid fingerprinting successfully excluded all 17 NC21OHDs (sensitivity and specificity of 100%) from 266 PCOS from an external testing cohort of originally 549 women, without the use of ACTH testing. Blood sampling timing during the menstrual cycle phase did not impact the efficiency of our model. LIMITATIONS, REASONS FOR CAUTION: The main limitations were the use of a restricted and fully prospective cohort as well as an analytical issue, as not all laboratories are equipped with mass spectrometers able to routinely measure this panel of 15 steroids. Moreover, the robustness of our model needs to be established with a larger prospective study for definitive validation in clinical practice. WIDER IMPLICATIONS OF THE FINDINGS: This tool makes it possible to propose a new semiology for the management of hyperandrogenism. The model presents better diagnostic performances compared to the current reference strategy. The management of patients may be facilitated by limiting the use of ACTH tests. Finally, the modeling process allows a classification of steroid contributions to rationalize the biomarker approach and highlight some underlying pathophysiological mechanisms. STUDY FUNDING/COMPETING INTEREST(S): This study was supported by 'Agence Française de Lutte contre le dopage' and DIM Région Ile de France. This study was supported by the French institutional PHRC 2010-AOR10032 funding source and APHP. All authors declare no competing financial interests. TRIAL REGISTRATION NUMBER: N/A.
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Síndrome do Ovário Policístico , Humanos , Feminino , Estudos Prospectivos , Hormônio Adrenocorticotrópico , Cromatografia Líquida , Espectrometria de Massas em Tandem , EsteroidesRESUMO
BACKGROUND: Acromegaly is a disease of growth hormone excess that results in enlargement of extremities, abnormal glucose and lipid metabolism, and gonadal disruption. Manifestations of the disease are insidious and typically lead to a diagnostic delay of 7-10 years. Classically the polycystic ovary syndrome (PCOS) phenotype is described in women with irregular menses, clinical or biochemical evidence of androgen excess, and/or multiple ovarian follicles on pelvic ultrasonography. Women with acromegaly may present with some or all of these symptoms. Our objective was to evaluate the prevalence of PCOS in patients with acromegaly and to determine if diagnosis of PCOS results in a delay in diagnosing acromegaly. METHODS: Using patient databases at two academic health centers, we identified 97 premenopausal women aged 18-49 years old presenting with acromegaly. Data were collected regarding pelvic sonography and reproductive history, including the diagnosis of PCOS. Patients carrying the diagnosis of PCOS before their diagnosis of acromegaly were identified and the remaining patients were screened using the Rotterdam criteria to identify additional patients meeting the criteria for PCOS prior to their diagnosis of acromegaly. RESULTS: Mean age of the population (n = 97) at the time of diagnosis of acromegaly was 33.4 ± 7.5 years (SD). Thirty-three percent of patients (n = 32) either carried a diagnosis of PCOS or met diagnostic criteria for PCOS before their diagnosis of acromegaly. In the subset of patients in whom data on symptom onset were available, those who met criteria for PCOS were diagnosed with acromegaly a median of 5 years [4, 9] after the onset of symptoms compared to 2 years [0.92, 3] (p = 0.006) in the patients who did not meet criteria for PCOS. CONCLUSIONS: Our data demonstrate a high prevalence of signs and symptoms of PCOS in reproductive-aged women with acromegaly and a longer time to diagnosis in women who meet the clinical criteria for PCOS. As screening for acromegaly is relatively simple and done with measurement of a random, non-fasting IGF-1 level that can be drawn at any time during the menstrual cycle, screening patients with PCOS for acromegaly may lessen the delay in diagnosis for reproductive-aged women with this disease.
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Acromegalia , Síndrome do Ovário Policístico , Feminino , Humanos , Acromegalia/complicações , Acromegalia/diagnóstico , Diagnóstico Tardio , Síndrome do Ovário Policístico/complicações , Síndrome do Ovário Policístico/diagnóstico , Síndrome do Ovário Policístico/epidemiologia , Reprodução , Estudos Retrospectivos , AdultoRESUMO
Here we describe three patients with neurodevelopmental disorders characterized by mild-to-moderate intellectual disability, mildly dysmorphic features, and hirsutism, all of which carry de novo sequence variants in the WW domain-containing adaptor of the coiled-coil (WAC) gene; two of these-c.167delA, p.(Asn56I1efs*136) and c.1746G>C, p.(Gln582His)-are novel pathogenic variants, and the third-c.1837C>T, p(Arg613*)-has been previously described. Diseases associated with WAC include DeSanto-Shinawi syndrome; to date, de novo heterozygous constitutional pathogenic WAC variants have caused a syndromic form of intellectual disability and mild dysmorphic features in 33 patients, yet potential associations with other clinical manifestations, such as oligomenorrhea and hyperandrogenism, remain unknown, because the phenotypic spectrum of the condition has not yet been delineated. The patient bearing the novel c.167delA WAC gene variant presented a normal psychomotor development, oligomenorrhea, hyperandrogenism, and hirsutism, and hirsutism was also observed in the patient with the c.1746G>C WAC gene variant. Hypertrichosis and hirsutism have been described in nine DeSanto-Shinawi patients, only in 17 of the 33 aforementioned patients thus far reported this aspect, and no hormonal-pattern data are available. In conclusion, we note that the pathogenic c.167delA WAC variant may be associated with a mild phenotype; and in addition to the neurodevelopmental problems nearly all DeSanto-Shinawi patients experience (i.e., intellectual disability and/or developmental delay), we recommend the addition of mild dysmorphic features, hirsutism, and hypertrichosis to this clinical presentation.
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Hiperandrogenismo , Hipertricose , Deficiência Intelectual , Humanos , Feminino , Deficiência Intelectual/genética , Hirsutismo/genética , Hipertricose/genética , Oligomenorreia , FenótipoRESUMO
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.
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Curcumina , Síndrome do Ovário Policístico , Feminino , Humanos , Hirsutismo/tratamento farmacológico , Androgênios , Curcumina/uso terapêutico , Amenorreia , Oligomenorreia , Irã (Geográfico)/epidemiologia , Testosterona , Triglicerídeos , Colesterol , LDL-ColesterolRESUMO
Hyperandrogenism is a state of androgen excess that can induce hirsutism and oligo/amenorrhea in women of reproductive age. Therapeutic strategies differ according to etiology. Hence, the differential diagnosis of hyperandrogenism is crucial. The adrenal gland is an important organ that produces androgens. One common cause of hyperandrogenism is androgen-secreting adrenal tumors; however, adrenocortical oncocytic neoplasms (ACONs) are rare. A 23-year-old woman presented with severe hirsutism and menstrual disorders for 2 years. Her Ferriman-Gallway hirsutism score was 15 at her first consultation. Her menstrual cycles were irregular, and her menstrual flow had diminished gradually over the past 2 years. She had a remarkable elevation of total testosterone, dehydroepiandrosterone sulfate and androstenedione. Pelvic ultrasonography showed normal morphology of the uterus and bilateral ovaries. Computed tomography revealed a giant left adrenal tumor with a diameter of 12 cm. The patient then underwent robotic-assisted adrenal tumor resection. Histopathological assessment indicated adrenocortical oncocytic neoplasm with uncertain malignant potential. After 4 years of follow-up, no recurrence of symptoms was noted, and this patient delivered a healthy infant on her due date in October 2021. This article reviews the clinical features, diagnosis, and treatment of ACONs and highlights the importance of differential diagnosis for hyperandrogenism in women.
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Neoplasias das Glândulas Suprarrenais , Hiperandrogenismo , Síndrome do Ovário Policístico , Humanos , Feminino , Adulto Jovem , Adulto , Hiperandrogenismo/etiologia , Hirsutismo/complicações , Hirsutismo/diagnóstico , Androgênios , Testosterona , Síndrome do Ovário Policístico/complicações , Neoplasias das Glândulas Suprarrenais/complicaçõesRESUMO
OBJECTIVE: This guideline reviews the etiology, diagnosis, evaluation, and treatment of hirsutism. TARGET POPULATION: Women with hirsutism. OPTIONS: Three approaches to management include: 1) mechanical hair removal; 2) suppression of androgen production; and 3) androgen receptor blockade. OUTCOMES: The main limitations of the management options include the adverse effects, costs, and duration of treatment. BENEFITS, HARMS, AND COSTS: Implementation of the recommendations in this guideline may improve the management of hirsutism in women with this condition. Adverse effects and a potential long duration of treatment are the main drawbacks to initiating treatment, as is the possibility of significant financial costs for certain treatments. EVIDENCE: A comprehensive literature review was updated to April 2022, following the same methods as for the prior Society of Obstetricians and Gynaecologists of Canada (SOGC) Hirsutism guidelines. Results were restricted to systematic reviews, randomized controlled trials, controlled clinical trials, and observational studies. There were no date limits, but results were limited to English- or French-language materials. VALIDATION METHODS: The authors rated the quality of evidence and strength of recommendations using the modified Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach, along with the option of designating a recommendation as a "good practice point." See online Appendix A (Tables A1 for definitions and A2 for interpretations of strong and conditional [weak] recommendations). INTENDED AUDIENCE: Primary care providers, family medicine physicians, obstetricians and gynaecologists, reproductive endocrinologists and others who manage the care of patients with hirsutism. TWEETABLE ABSTRACT: Management of hirsutism involves a 3-pronged approach of mechanical hair removal, suppression of androgen production, and androgen receptor blockade. SUMMARY STATEMENTS: RECOMMENDATIONS.
Assuntos
Hirsutismo , Receptores Androgênicos , Feminino , Humanos , Androgênios , Canadá , Hirsutismo/diagnóstico , Hirsutismo/tratamento farmacológicoRESUMO
STUDY QUESTION: Does maternal polycystic ovarian syndrome (PCOS) affect the timing of pubertal development in daughters and sons? SUMMARY ANSWER: Maternal PCOS was associated with earlier adrenarche in daughters. WHAT IS KNOWN ALREADY: Female adolescents with PCOS often experience earlier adrenarche compared to adolescents without PCOS, due to hyperandrogenism. Likewise, they usually have hyperandrogenism during pregnancy, which might potentially affect the development of the foetus, including its future reproductive health. STUDY DESIGN, SIZE, DURATION: In this population-based cohort study, we included 15 596 mothers-child pairs from the Danish National Birth Cohort (DNBC) Puberty Cohort, who were followed from foetal life until full sexual maturation or 18 years of age. PARTICIPANTS/MATERIALS, SETTING, METHODS: Using register-based and self-reported information on maternal PCOS and menstrual irregularities, collected during pregnancy, we categorized the mothers as having PCOS (n = 251), oligomenorhoea (n = 134), 'other menstrual irregularities' (n = 2411) or no menstrual abnormalities (reference group, n = 12 800). The children provided self-reported information on pubertal development every 6 months from the age of 11 years. The main outcome measures were adjusted mean age differences (in months) at attaining several individual pubertal milestones using an interval-censored regression model, as well as the average difference in age at attaining all pubertal milestones combined into a single estimate using Huber-White robust variance estimation. MAIN RESULTS AND THE ROLE OF CHANCE: We found that maternal PCOS was associated with an accelerated pubertal development in daughters with an overall average difference of -3.3 (95% CI: -6.3; -0.4) months based on all pubertal milestones compared to the reference group. When further looking into the average difference for adrenarche only (pubarche, axillary hair and acne), the average difference was -5.4 (95% CI: -8.7; -2.1) months compared to the reference group; whereas thelarche and menarche did not occur earlier in daughters of mothers with PCOS (average difference: -0.8 (95% CI: -3.9; 2.4) months). Oligomenorrhoea and 'other menstrual irregularities' were not associated with pubertal development in daughters. Neither PCOS, oligomenorrhoea nor 'other menstrual irregularities' were associated with pubertal development in sons. LIMITATIONS, REASONS FOR CAUTION: We expect some degree of non-differential misclassification of maternal PCOS and menstrual irregularities as well as pubertal development in the children. WIDER IMPLICATIONS OF THE FINDINGS: Maternal PCOS might accelerate adrenarche in daughters. Whether this is due to genetics, epigenetics or prenatal programming by hyperandrogenism in foetal life remains unsolved. The results from the present study can be generalized to Caucasian populations. STUDY FUNDING/COMPETING INTEREST(S): The study is funded by the Faculty of Health at Aarhus University. The authors have no financial relationships or competing interests to disclose. TRIAL REGISTRATION NUMBER: N/A.
Assuntos
Hiperandrogenismo , Síndrome do Ovário Policístico , Adolescente , Gravidez , Feminino , Humanos , Criança , Estudos de Coortes , Síndrome do Ovário Policístico/complicações , Hiperandrogenismo/complicações , Oligomenorreia/complicações , Núcleo Familiar , Distúrbios Menstruais/complicaçõesRESUMO
Spironolactone is a drug, similar in structure to aldosterone and acts as an aldosterone receptor antagonist with an anti-androgenic effect. This drug has proven to be useful in several dermatological entities, however its use has not been well explored. Its use in diseases such as acne has opened the door to the possibility of new therapies depending on the clinical manifestations of the patients, as well as its possible to use it as a first line treatment. Other diseases associated with the use of spironolactone where its effects have been shown to be useful are hidradenitis suppurativa, hirsutism, and female pattern androgenetic alopecia. In this review, we discuss the use of spironolactone in different skin diseases that are common in our environment, dosage according to different studies, treatment recommendations and adverse effects; all of the above mentioned in order to use this drug in a daily clinical practice.
Assuntos
Acne Vulgar , Dermatologia , Hidradenite Supurativa , Acne Vulgar/tratamento farmacológico , Feminino , Hidradenite Supurativa/tratamento farmacológico , Hirsutismo/tratamento farmacológico , Humanos , Espironolactona/efeitos adversosRESUMO
OBJECTIVE: To compare clinical outcomes of 3 treatment regimens-glucocorticoids (GCs), oral contraceptives (OCs), or a combination of both-administered to adolescents and young women diagnosed in childhood with nonclassical congenital adrenal hyperplasia (NCCAH), who had been treated with GCs until their adult height was achieved. METHODS: A retrospective study of medical records of 53 female patients with NCCAH followed in 3 tertiary pediatric endocrinology institutes. The 3 treatment groups were compared for the prevalence of hirsutism and acne, standardized body mass index (BMI)-standard deviation score (SDS), and androgen levels at the attainment of adult height (baseline), 1-year later, and at the last documented visit. RESULTS: At baseline, there were no significant differences among groups in BMI-SDS, androgen levels, hirsutism prevalence, acne, or irregular menses. From baseline to the last visit, the rate of hirsutism declined significantly only in the OC group (37.5% vs 6.2%, respectively; P = .03). The rate of acne declined in the combined group (50% vs 9%, respectively; P = .03) with a similar tendency in the OC group (50% vs 12.5%, respectively; P = .05). No significant changes were observed in BMI-SDS for the entire cohort or any subgroup during follow-up. A significant rise in androstenedione (P < .001), testosterone (P < .01), and 17-hydroxyprogesterone (P < .01) levels was observed only in the OC group. CONCLUSION: In girls diagnosed in childhood with NCCAH, who require treatment for hyperandrogenism following completion of linear growth, management should be tailored individually using a patient-centered approach. Treatment with OCs might be better than that with GCs for regression of hirsutism and acne. The long-term effects of elevated levels of androgens associated with this treatment regimen should be further studied.
Assuntos
Hiperplasia Suprarrenal Congênita , Glucocorticoides , Adolescente , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Hiperplasia Suprarrenal Congênita/epidemiologia , Adulto , Androstenodiona , Criança , Anticoncepcionais Orais , Feminino , Hirsutismo/tratamento farmacológico , Hirsutismo/epidemiologia , Humanos , Estudos RetrospectivosRESUMO
BACKGROUND: Polycystic ovarian syndrome (PCOS) affects up to one-fifth of women of reproductive age and causes anovulatory subfertility. Some studies have recommended that an anti-Müllerian hormone (AMH) level greater than 3.8-5 ng/mL can be used for diagnosing PCOS. This study aims to analyse serum AMH levels among PCOS women of reproductive age to use AMH as a biomarker predictor along with other Rotterdam criteria. METHODS: In this cross-sectional study, a total of 98 women visiting the fertility center of a private hospital in Lahore, Pakistan, were screened. Data were obtained from 51 PCOS newly diagnosed women aged 28.24 years (SD ± 4.84 years) meeting at least two of the Rotterdam criteria and specific inclusion criteria. Baseline variables, menstrual cycle length, ovarian morphology on ultrasound, hirsutism, sex hormones, gonadotropin, and serum AMH levels were analysed during the follicular phase (1-5 days) of the menstrual cycle. Serum AMH was measured by an enzyme-linked immunosorbent assay. RESULTS: A high serum AMH level (7.23 ± 4.67 ng/ml) was recorded with normal sex hormone levels. Women with oligo-/amenorrhea had a significant mean difference for luteinizing hormone (p = 0.02) and AMH levels (p = 0.03) when compared with women of normal menstrual cycle length. PCOS women with high AMH levels (≥ 3.9 ng/ml) showed a significant difference in ovarian morphology (p < 0.05) when compared with the normal AMH group. CONCLUSIONS: An elevated serum AMH level can be used as a strong predictor to reflect the certainty of PCOS diagnosis among women of reproductive age when study concurrently with the other Rotterdam criteria.