Atendendo mulheres com cariótipo 46, XY / Attending women with 46, XY karyotype

As diferenças ou distúrbios do desenvolvimento sexual (DDS) compreendem um grupo heterogêneo de condições congênitas que resultam na discordância entre os cromossomos sexuais, as gônadas e/ou o sexo anatômico de um indivíduo. A classificação desses distúrbios é baseada no cariótipo conforme o Consenso de Chicago de 2006 e substitui os termos pseudo-hermafroditismo, hermafroditismo e intersexo. O objetivo desta revisão é fornecer ao ginecologista conhecimentos básicos sobre a etiologia, fisiopatologia e orientações das principais anormalidades de DDS para uma avaliação diagnóstica e terapêutica no atendimento de mulheres na infância, adolescência e em idade adulta com cariótipo 46,XY. O diagnóstico deve ser realizado pela interação entre o exame clínico as dosagens hormonais, os exames de imagem e a análise genética, desde o cariótipo até o estudo de alterações dos genes por técnicas de biologia molecular. O tratamento é realizado de acordo com a etiologia e inclui intervenções cirúrgicas como a gonadectomia e plásticas sobre a genitália externa, terapia de reposição hormonal e apoio psicológico. São necessárias a individualização dos casos e uma equipe interdisciplinar, para um atendimento adequado às mulheres com cariótipo 46,XY.(AU)

Differences or disorders of sexual development (DSDs) comprise a heterogeneous group of congenital conditions that result in the disagreement between an individual's sex chromosomes, gonads and/or anatomic sex. The classification of these disorders is based on the karyotype according to the 2006 Chicago Consensus and replaces the terms pseudohermaphroditism, hermaphroditism and intersex. The aim of this review is to provide the gynecologist with basic knowledge about the etiology, pathophysiology and guidelines of the main abnormalities of DDS for a diagnostic and therapeutic evaluation in the care of women in childhood, adolescence and adulthood with a karyotype 46,XY. The diagnosis must be made by the interaction between clinical examination hormonal measurements, imaging and genetic analysis from the karyotype to the study of gene alterations by molecular biology techniques. Treatment is carried out according to the etiology and includes surgical interventions such as gonadectomy and plastic surgery on the external genitalia, hormone replacement therapy and psychological support. Individualization of cases and an interdisciplinary team are required to provide adequate care for women 46,XY karyotype.(AU)

Sexual Practices During Adolescence.

Adolescence is characterized by significant biological and psychological changes. During this time, the increased production of androgens leads to increased sexual behavior, and this may contribute to early initiation of sexual activity. The objectives of the present cross-sectional study of adolescents enrolled in state schools in the city of Ribeirão Preto, state of São Paulo, Brazil, were to determine the average age at the first sexual intercourse (sexarche), the average number of sexual partners, and the frequency of contraceptive and condom use. Information on the age at sexarche, number of sexual partners, use of different contraceptive methods, and use of condoms were obtained using a semistructured questionnaire. Quantitative variables are expressed as means and standard deviations (SDs), and qualitative variables as absolute and relative frequencies. The chi-squared test was used for comparisons of qualitative variables, and the Student t-test for comparisons of continuous variables. All statistical analyses were performed using SAS (version 9.4, North Carolina State University, USA). We evaluated 202 students who answered the questionnaire, 69 males (36.36%) and 133 females (63.64%). The age at sexarche for men ranged from 7 to 18 years old, and for women from 7 to 17 years old. Forty-eight girls (36.01%) and 21 boys (30.43%) were in the first year of high school, 66.94% of adolescents reported sexual intercourse, and 56.25% used a condom during the first sexual intercourse. A total of 36.72% of students said they had safe sex most of the time, and 83.59% said that the first sexual intercourse happened because they "had a crush on" the other person.

A adolescência é caracterizada por significativas mudanças biológicas e psicológicas. Durante esse período, o aumento da produção de andrógenos leva ao aumento do comportamento sexual e isso pode contribuir para o início precoce da atividade sexual. Os objetivos do presente estudo transversal de adolescentes matriculados em escolas estaduais da cidade de Ribeirão Preto, São Paulo, Brasil, foram determinar a idade média na primeira relação sexual (sexarca), o número médio de parceiros sexuais e a frequência de uso de contraceptivos e preservativos. Informações sobre idade na sexarca, número de parceiros sexuais, uso de diferentes métodos contraceptivos e uso de preservativo foram obtidas por meio de um questionário semiestruturado. As variáveis quantitativas são expressas como média e desvio padrão (DP) e as variáveis qualitativas como frequências absolutas e relativas. O teste do qui-quadrado foi usado para comparações de variáveis qualitativas e o teste t de Student para comparações de variáveis contínuas. Todas as análises estatísticas foram realizadas no SAS (version 9.4, North Carolina State University, USA). Foram avaliados 202 estudantes que responderam ao questionário, 69 do sexo masculino (36,36%) e 133 do feminino (63,64%). A idade de sexarca para homens variou de 7 a 18 anos e para mulheres de 7 a 17 anos. Quarenta e oito meninas (36,01%) e 21 meninos (30,43%) cursavam o primeiro ano do ensino médio, 66,94% dos adolescentes relataram relações sexuais e 56,25% usaram camisinha durante a primeira relação sexual. Um total de 36,72% dos estudantes afirmou ter praticado sexo seguro a maior parte do tempo e 83,59% disseram que a primeira relação sexual aconteceu porque "tinham uma queda por" a outra pessoa.

Sexual practices during adolescence / Práticas sexuais na adolescência

Abstract Adolescence is characterized by significant biological and psychological changes. During this time, the increased production of androgens leads to increased sexual behavior, and this may contribute to early initiation of sexual activity. The objectives of the present cross-sectional study of adolescents enrolled in state schools in the city of Ribeirão Preto, state of São Paulo, Brazil, were to determine the average age at the first sexual intercourse (sexarche), the average number of sexual partners, and the frequency of contraceptive and condom use. Information on the age at sexarche, number of sexual partners, use of different contraceptive methods, and use of condoms were obtained using a semistructured questionnaire. Quantitative variables are expressed as means and standard deviations (SDs), and qualitative variables as absolute and relative frequencies. The chi-squared test was used for comparisons of qualitative variables, and the Student t-test for comparisons of continuous variables. All statistical analyses were performed using SAS (version 9.4, North Carolina State University, USA). We evaluated 202 students who answered the questionnaire, 69 males (36.36%) and 133 females (63.64%). The age at sexarche for men ranged from 7 to 18 years old, and for women from 7 to 17 years old. Forty-eight girls (36.01%) and 21 boys (30.43%) were in the first year of high school, 66.94% of adolescents reported sexual intercourse, and 56.25% used a condom during the first sexual intercourse. A total of 36.72% of students said they had safe sex most of the time, and 83.59% said that the first sexual intercourse happened because they "had a crush on" the other person.

Resumo A adolescência é caracterizada por significativas mudanças biológicas e psicológicas. Durante esse período, o aumento da produção de andrógenos leva ao aumento do comportamento sexual e isso pode contribuir para o início precoce da atividade sexual. Os objetivos do presente estudo transversal de adolescentes matriculados em escolas estaduais da cidade de Ribeirão Preto, São Paulo, Brasil, foram determinar a idade média na primeira relação sexual (sexarca), o número médio de parceiros sexuais e a frequência de uso de contraceptivos e preservativos. Informações sobre idade na sexarca, número de parceiros sexuais, uso de diferentes métodos contraceptivos e uso de preservativo foram obtidas por meio de um questionário semiestruturado. As variáveis quantitativas são expressas como média e desvio padrão (DP) e as variáveis qualitativas como frequências absolutas e relativas. O teste do qui-quadrado foi usado para comparações de variáveis qualitativas e o teste t de Student para comparações de variáveis contínuas. Todas as análises estatísticas foram realizadas no SAS (version 9.4, North Carolina State University, USA). Foram avaliados 202 estudantes que responderam ao questionário, 69 do sexo masculino (36,36%) e 133 do feminino (63,64%). A idade de sexarca para homens variou de 7 a 18 anos e para mulheres de 7 a 17 anos. Quarenta e oito meninas (36,01%) e 21 meninos (30,43%) cursavam o primeiro ano do ensino médio, 66,94% dos adolescentes relataram relações sexuais e 56,25% usaram camisinha durante a primeira relação sexual. Um total de 36,72% dos estudantes afirmou ter praticado sexo seguro a maior parte do tempo e 83,59% disseram que a primeira relação sexual aconteceu porque "tinham uma queda por" a outra pessoa.

Pelvic floor muscle training increases pelvic floor muscle strength more in post-menopausal women who are not using hormone therapy than in women who are using hormone therapy: a randomised trial.

QUESTION: Are there differences in the effectiveness of pelvic floor muscle training on pelvic floor muscle strength and urinary incontinence symptoms in postmenopausal women who are and are not using hormone therapy? DESIGN: Randomised, controlled trial with concealed allocation, blinded assessors, and intention-to-treat analysis. PARTICIPANTS: Ninety-nine postmenopausal women, 38 of whom were using daily systemic oestrogen/progestogen therapy. INTERVENTION: The experimental group (n=51) received an intensive supervised pelvic floor muscle training protocol, and the control group (n=48) received no intervention. The randomisation was stratified by hormone therapy use. OUTCOME MEASURES: Change in pelvic floor muscle strength assessed with manometry at 12 weeks. Prevalence and severity of urinary incontinence symptoms were assessed using questionnaires. RESULTS: Eighty-eight women provided data that could be included in the analysis. Pelvic floor muscle training increased pelvic floor muscle strength by 8.0 cmH2O (95% CI 3.4 to 12.6) in women not using hormone therapy and by -0.9 cmH20 (95% CI -6.5 to 4.8) in women using hormone therapy (interaction p=0.018). A sensitivity analysis showed that the greater training effect in women who were not using hormone therapy was still apparent if the analysis was conducted on percentage change in strength rather than absolute change in strength. There was also a significantly greater effect of training in women not using hormone therapy on prevalence of urinary incontinence symptoms (ratio of odds ratios=7.4; interaction p=0.028). The difference in effects on severity of urinary incontinence symptoms was not statistically significant (interaction p=0.37). CONCLUSION: Pelvic floor muscle training increases pelvic floor muscle strength more in women who are not using hormone therapy than in women using hormone therapy. TRIAL REGISTRATION: ClinicalTrials.gov NCT02549729. [Ignácio Antônio F, Herbert RD, Bø K, Rosa-e-Silva ACJS, Lara LAS, Franco MdM, Ferreira CHJ (2018) Pelvic floor muscle training increases pelvic floor muscle strength more in post-menopausal women who are not using hormone therapy than in women who are using hormone therapy: a randomised trial. Journal of Physiotherapy 64: 166-171].

Quality of Life in Women With Breast Cancer Treated With or Without Chemotherapy.

BACKGROUND: The diagnosis and treatment of breast cancer may negatively affect the quality of life (QOL) of women. OBJECTIVES: The aim of this study is to assess QOL in women with breast cancer who were treated with or without chemotherapy and to identify factors associated with improved or worsening QOL in these women. METHODS: This cross-sectional study enrolled 112 women who were treated with chemotherapy (CTX group, with 85 [75.9%] women) or without chemotherapy (non-CTX group, with 27 [24.1%] women) for breast cancer. The Short-Form Health Survey (SF-36) assessed QOL and the Hospital Anxiety and Depression scale assessed anxiety and depression. RESULTS: The overall mean SF-36 score was below 50 in all domains. Relative to CTX women, non-CTX women were significantly older (P = .001) and more likely to engage in physical exercise (P = .002). The non-CTX group had higher scores in the Physical Functioning (P = .001) and Role-Physical (P = .0009) domains of the SF-36 relative to the CTX group, and the fluoruracil + epirubicin + cyclophosphamide group had significantly lower scores in the SF-36 domains Physical Functioning (P = .009) and Role-Physical (P = .02). CONCLUSION: Chemotherapy treatment for breast cancer worsens QOL in the Physical Functioning and the Role-Physical domains of the SF-36 relative to women treated without chemotherapy. IMPLICATIONS FOR PRACTICE: Nurses should assess Physical Functioning and the Role-Physical before treatment, as a woman who was not physically active before breast cancer is not likely to become physically active after treatment. Establishing support groups and providing educational sessions about the disease and its management, supportive care can improve the QOL of this population.

Impact of Physical Resistance Training on the Sexual Function of Women with Polycystic Ovary Syndrome.

INTRODUCTION: There is a need for specific measures to address overall care in women with polycystic ovary syndrome (PCOS). Physical resistance training (PRT) has been shown to improve certain body parameters. However, the effect of PRT on the sexual function of PCOS women has not been evaluated. AIM: The study aimed to assess sexual function and emotional status of PCOS women after 16 weeks of PRT. METHODS: This case-control study involved 43 women with PCOS and 51 control ovulatory women, aged 18-37 years. All women were subjected to a supervised PRT protocol for 16 weeks and evaluated at the end of the program. Sexual function was assessed at baseline and after PRT protocol. MAIN OUTCOME MEASURES: The main outcome measure used was the Female Sexual Function Index (FSFI). RESULTS: Of the 43 women with PCOS, 30 (69.70%) had a basal total FSFI score ≤ 26.55 and 24 of them (58.54%) had a score ≤ 26.55 after PRT (P = 0.08). Of the 51 control women, 32 (62.7%) and 27 (52.9%) had FSFI scores < 26.55 at baseline and after PRT, respectively (P = 0.06). Control women experienced a significant improvement in pain domain score after PRT (P < 0.03). PCOS women experienced significant increases in total score and in the desire, excitement and lubrication domains after PRT (P < 0.01 each). After PRT, there was a significant difference between the PCOS and control groups in the sexual desire domain (4.09 ± 1.29 vs. 3.75 ± 1.42, P = 0.04). Significantly fewer women in the PCOS group were at risk of depression (P < 0.01) and anxiety (P < 0.02) after than before PRT, whereas the differences in the control group were not significant. Mean depression and anxiety scores were reduced significantly in both the PCOS (P < 0.01 each) and control (P < 0.01) groups. CONCLUSIONS: PRT significantly enhanced total score and the desire, excitement, and lubrication domains of the FSFI in PCOS women. PRT reduced pain, and total depression and anxiety scores in both groups.

Altered sexual and reproductive functions in epileptic men taking carbamazepine.

INTRODUCTION: Epileptic men may experience hormonal changes that may alter semen quality and sexual function. Alterations in male sexual and reproductive parameters may also be due to treatment with antiepileptic drugs to control seizures. AIMS: To evaluate serum hormone concentrations, semen quality, the frequency of sexual intercourse (FSI), and erectile function in men with epileptic seizures controlled by carbamazepine (CBZ). MAIN OUTCOME MEASURES: The five-question form of the International Index of Erectile Function (IIEF-5), and semi-structured questionnaire. METHODS: One hundred and eighteen men, aged 18-45 years, were included in this controlled, cross-sectional study: 63 men taking CBZ (epileptic group) were compared to 55 healthy men (control group). Blood sample was collected to determine hormones concentrations. Erectile function and the frequency of sexual relations were assessed by using questionnaires. Sperm morphology was analyzed by examining the quality of the head, intermediate part and tail of the spermatozoa. RESULTS: Using the IIEF-5, we observed a significant association between erectile dysfunction (ED) and groups (P < 0.01), where epileptic men had 17.33 (95% CI 3.59, 83.52) odds to have erectile dysfunction. Adjusted odds ratio to group considering luteinizing hormone, prolactin, Serum total testosterone, androstenedione, and dehydroepiandrosterone, androstenedione levels and free androgen index, we observed only group effect where epileptic men had 10.47 (95% CI 2.75, 39.83) odds to have FSI < 3 times a week. Sperm vitality was altered in 27% of the epileptic subjects compared with 5.4% of the control group (P < 0.002). Sperm motility differed significantly between groups, with A + B motility ≤50% observed in 98.4% of the epileptic group and in 85.4% of the control group (P < 0.01). Sperm morphology <14% was observed in 93.7% of the epileptic men, compared with 34.6% of the controls (P < 0.001). CBZ users, showed less sexual intercourse then controls (P ≤ 0.001). CONCLUSIONS: Epileptic men taking CBZ present with changes in hormonal levels, altered semen quality, ED, and a reduction in coital frequency.

Women's poorer satisfaction with their sex lives following gynecologic cancer treatment.

Gynecologic cancer treatment can lead to anatomical changes in the genitalia that may impair sexual response. As a result, the authors aimed to assess women's self-perceptions of their sex lives following gynecologic cancer treatment and the impact of such treatment on sexual function. Thirty sexually active women were examined. At the first meeting with a physician sex therapist, women were asked about their satisfaction with their sexual activities prior to and after gynecologic cancer treatment, either with a partner or alone, and how many times per month they had sexual intercourse prior to the cancer diagnosis and after treatment. Women reported significantly worse sex lives and a significantly lower frequency of sexual relations following cancer treatment. All participants reported pain on vaginal penetration and feeling uncomfortable in discussing their sexual difficulties with the oncologist. The findings show that women experienced impaired sexual function, as well as poorer quality of sexual function, following gynecologic cancer treatment. Nurses should provide basic guidelines about sexual function to all patients who undergo treatment for gynecologic cancer.

[Macroprolactinemia and intermediate hyperprolactinemia: clinical manifestations and image]. / Macroprolactinemia e hiperprolactinemia intermediária: manifestações clínicas e achados radiológicos.

PURPOSE: To characterize patients with indeterminate values of hyperprolactinemia (PEG test for the identification of macroprolactinemias with recovery between 30 and 65%) (PRLi) or macroprolactinemia (PRLm), in relation to clinical characteristics, such as the presence or absence of symptoms, as well as their intensity and variation, and the presence or absence of central nervous system tumors. METHODS: This is a cross-sectional retrospective survey of records of 24 patients with hyperprolactinemia, in reproductive ages, with prolactin >25 ng/dL. Eleven women with PRLm and 13 with PRLi were included. Records from the two groups were extracted for analysis: age, parity, body mass index, presence of galactorrhea, infertility, and central nervous system tumor. Anthropometrics data were expressed as mean and standard deviation. To compare groups regarding the presence of central nervous system tumor, galactorrhea, as well as infertility we used the Student's t-test. RESULTS: Galactorrhea was more prevalent in patients with PRLi (p=0.01). Seventy percent of women with PRLi presented pituitary tumor (microprolactinoma), whereas this finding was evident in 17% of the PRLm Group (p=0.04). Among the patients with and PRLm PRLi, nine were not investigated with the image of the central nervous system because they have low levels of prolactin (five carriers and four PRLm PRLi). There were no significant differences regarding the occurrence of infertility or irregular menstrual cycles between groups. DISCUSSION: Women with intermediate hyperprolactinemia present more galactorrhea symptoms as well as central nervous system tumors than women with macroprolactinemia.

Macroprolactinemia e hiperprolactinemia intermediária: manifestações clínicas e achados radiológicos / Macroprolactinemia and intermediate hyperprolactinemia: clinical manifestations and image

OBJETIVOS: Caracterizar as pacientes com valores indeterminados de hiperprolactinemia (teste de PEG para identificação de macroprolactinemias com recuperação entre 30 e 65 por cento) (PRLi) ou macroprolactinemia (PRLm), quanto às características clínicas, como intensidade e variação dos sintomas e presença ou não de tumores no sistema nervoso central. MÉTODOS: Estudo transversal, retrospectivo, de levantamento de prontuários, no qual foram incluídas 24 pacientes com diagnóstico de hiperprolactinemia (PRL>25 ng/dL), em idade reprodutiva, em seguimento em ambulatório de ginecologia endócrina. Foram incluídas 11 pacientes com PRLm e 13 com PRLi. Dos dois grupos (PRLm e PRLi), foram considerados para a análise registros dos dados relativos à idade, à paridade, ao índice de massa corporal, à presença de galactorreia, à infertilidade e ao tumor do sistema nervoso central. Os dados antropométricos foram expressos em média e desvio padrão e, para a comparação entre os grupos quanto à presença de tumor no sistema nervoso central, galactorreia e infertilidade, utilizou-se o teste t de Student. RESULTADOS: A galactorreia foi mais prevalente nas pacientes com PRLi (p=0,01). Setenta por cento das mulheres com PRLi apresentaram microprolactinoma de hipófise, enquanto que este achado foi evidente em 17 por cento das mulheres com PRLm (p=0,04). Dentre as pacientes com PRLm e PRLi, nove não foram investigadas com imagem do sistema nervoso central por apresentarem níveis pouco elevados de prolactina (cinco portadoras de PRLm e quatro de PRLi). Não houve diferença significativa quanto à ocorrência de infertilidade ou de ciclos menstruais irregulares. CONCLUSÕES: Mulheres com hiperprolactinemia intermediária apresentam mais sintomas de galactorreia e maior incidência de tumores do sistema nervoso central do que aquelas com macroprolactinemia.

PURPOSE: To characterize patients with indeterminate values of hyperprolactinemia (PEG test for the identification of macroprolactinemias with recovery between 30 and 65 percent) (PRLi) or macroprolactinemia (PRLm), in relation to clinical characteristics, such as the presence or absence of symptoms, as well as their intensity and variation, and the presence or absence of central nervous system tumors. METHODS: This is a cross-sectional retrospective survey of records of 24 patients with hyperprolactinemia, in reproductive ages, with prolactin >25 ng/dL. Eleven women with PRLm and 13 with PRLi were included. Records from the two groups were extracted for analysis: age, parity, body mass index, presence of galactorrhea, infertility, and central nervous system tumor. Anthropometrics data were expressed as mean and standard deviation. To compare groups regarding the presence of central nervous system tumor, galactorrhea, as well as infertility we used the Student's t-test. RESULTS: Galactorrhea was more prevalent in patients with PRLi (p=0.01). Seventy percent of women with PRLi presented pituitary tumor (microprolactinoma), whereas this finding was evident in 17 percent of the PRLm Group (p=0.04). Among the patients with and PRLm PRLi, nine were not investigated with the image of the central nervous system because they have low levels of prolactin (five carriers and four PRLm PRLi). There were no significant differences regarding the occurrence of infertility or irregular menstrual cycles between groups. DISCUSSION: Women with intermediate hyperprolactinemia present more galactorrhea symptoms as well as central nervous system tumors than women with macroprolactinemia.

Sexual dysfunction treatment in a patient with müllerian agenesy submitted to neovaginoplasty: a case report.

Vagina agenesis is a rare entity. Mayer-Rokitansky-Kuster-Hauser syndrome is the most significant cause of vagina agenesis, whereas the second most common cause is complete androgen syndrome. Surgical treatment can propitiate a vaginal reconstruction, but sexual function depends on several factors that affect sexual performance. Many reports focus on the intraoperative and postoperative results and only describe the global approach to these patients, but reports focusing on the management of these patients to enable them to have a normal sexual life are lacking. This case report highlights a multidisciplinary treatment for this kind of morbidity and emphasizes the necessity of incorporating careful attention to sexual health in the treatment of these patients so that they may achieve a good therapeutic response, resulting in a pleasurable sexual life and a good quality of living.