Immunohistochemical assessment of symptomatic postmenopausal endometrial polyps in tamoxifen users and nonusers: a case control study.

BACKGROUND: Endometrial polyps are common in postmenopausal women, and the effect of tamoxifen use (a risk factor for endometrial polyps) on their pathogenesis is unclear. OBJECTIVES: To evaluate the expression of hormone receptors and markers for proliferation/apoptosis (Ki-67 and Bcl-2) in endometrial polyps in postmenopausal users and nonusers of tamoxifen. DESIGN AND SETTING: Cross-sectional analytical study in a tertiary-level academic hospital. METHODS: 46 women (14 tamoxifen users and 32 nonusers) with postmenopausal bleeding underwent hysteroscopic resection of endometrial polyps. Polyp samples were immunohistochemically assessed for detection of Ki-67, Bcl-2 and estrogen and progesterone receptors. RESULTS: Analysis on the glandular component of the polyps revealed progesterone receptor expression in the polyps of 96.9% of the nonusers of tamoxifen, and 92.3% of the tamoxifen users (P = 0.499). All polyps in nonusers and 92.3% of those in users were also positive for estrogen receptors (P = 0.295). Ki-67 was expressed in 75% of the polyps in the tamoxifen users and 82.8% of those in the nonusers. All endometrial polyps expressed Bcl-2. CONCLUSIONS: The immunohistochemical analysis on endometrial polyps demonstrated that, although tamoxifen is considered to be a risk factor for endometrial polyps, there were no significant differences in the expression of hormone receptors between users and nonusers of tamoxifen. There were no between-group differences in Ki-67 and Bcl-2 expression, and all patients displayed inhibition of apoptosis by Bcl-2, thus supporting the theory that polyps develop due to inhibition of apoptosis, and not through cell proliferation.

Immunohistochemical assessment of symptomatic postmenopausal endometrial polyps in tamoxifen users and nonusers: a case control study

ABSTRACT BACKGROUND: Endometrial polyps are common in postmenopausal women, and the effect of tamoxifen use (a risk factor for endometrial polyps) on their pathogenesis is unclear. OBJECTIVES: To evaluate the expression of hormone receptors and markers for proliferation/apoptosis (Ki-67 and Bcl-2) in endometrial polyps in postmenopausal users and nonusers of tamoxifen. DESIGN AND SETTING: Cross-sectional analytical study in a tertiary-level academic hospital. METHODS: 46 women (14 tamoxifen users and 32 nonusers) with postmenopausal bleeding underwent hysteroscopic resection of endometrial polyps. Polyp samples were immunohistochemically assessed for detection of Ki-67, Bcl-2 and estrogen and progesterone receptors. RESULTS: Analysis on the glandular component of the polyps revealed progesterone receptor expression in the polyps of 96.9% of the nonusers of tamoxifen, and 92.3% of the tamoxifen users (P = 0.499). All polyps in nonusers and 92.3% of those in users were also positive for estrogen receptors (P = 0.295). Ki-67 was expressed in 75% of the polyps in the tamoxifen users and 82.8% of those in the nonusers. All endometrial polyps expressed Bcl-2. CONCLUSIONS: The immunohistochemical analysis on endometrial polyps demonstrated that, although tamoxifen is considered to be a risk factor for endometrial polyps, there were no significant differences in the expression of hormone receptors between users and nonusers of tamoxifen. There were no between-group differences in Ki-67 and Bcl-2 expression, and all patients displayed inhibition of apoptosis by Bcl-2, thus supporting the theory that polyps develop due to inhibition of apoptosis, and not through cell proliferation.

Isthmocele: an overview of diagnosis and treatment.

An isthmocele, a cesarean scar defect or uterine niche, is any indentation representing myometrial discontinuity or a triangular anechoic defect in the anterior uterine wall, with the base communicating to the uterine cavity, at the site of a previous cesarean section scar. It can be classified as a small or large defect, depending on the wall thickness of the myometrial deficiency. Although usually asymptomatic, its primary symptom is abnormal or postmenstrual bleeding, and chronic pelvic pain may also occur. Infertility, placenta accrete or praevia, scar dehiscence, uterine rupture, and cesarean scar ectopic pregnancy may also appear as complications of this condition. The risk factors of isthmocele proven to date include retroflexed uterus and multiple cesarean sections. Nevertheless, factors such as a lower position of cesarean section, incomplete closure of the hysterotomy, early adhesions of the uterine wall and a genetic predisposition may also contribute to the development of a niche. As there are no definitive criteria for diagnosing an isthmocele, several imaging methods can be used to assess the integrity of the uterine wall and thus diagnose an isthmocele. However, transvaginal ultrasound and saline infusion sonohysterography emerge as specific, sensitive and cost-effective methods to diagnose isthmocele. The treatment includes clinical or surgical management, depending on the size of the defect, the presence of symptoms, the presence of secondary infertility and plans of childbearing. Surgical management includes minimally invasive approaches with sparing techniques such as hysteroscopic, laparoscopic or transvaginal procedures according to the defect size.

Isthmocele: an overview of diagnosis and treatment

SUMMARY An isthmocele, a cesarean scar defect or uterine niche, is any indentation representing myometrial discontinuity or a triangular anechoic defect in the anterior uterine wall, with the base communicating to the uterine cavity, at the site of a previous cesarean section scar. It can be classified as a small or large defect, depending on the wall thickness of the myometrial deficiency. Although usually asymptomatic, its primary symptom is abnormal or postmenstrual bleeding, and chronic pelvic pain may also occur. Infertility, placenta accrete or praevia, scar dehiscence, uterine rupture, and cesarean scar ectopic pregnancy may also appear as complications of this condition. The risk factors of isthmocele proven to date include retroflexed uterus and multiple cesarean sections. Nevertheless, factors such as a lower position of cesarean section, incomplete closure of the hysterotomy, early adhesions of the uterine wall and a genetic predisposition may also contribute to the development of a niche. As there are no definitive criteria for diagnosing an isthmocele, several imaging methods can be used to assess the integrity of the uterine wall and thus diagnose an isthmocele. However, transvaginal ultrasound and saline infusion sonohysterography emerge as specific, sensitive and cost-effective methods to diagnose isthmocele. The treatment includes clinical or surgical management, depending on the size of the defect, the presence of symptoms, the presence of secondary infertility and plans of childbearing. Surgical management includes minimally invasive approaches with sparing techniques such as hysteroscopic, laparoscopic or transvaginal procedures according to the defect size.

RESUMO A istmocele ou nicho uterino é representada por uma descontinuidade miometrial ou um defeito anecoico triangular na parede uterina anterior, com a base se comunicando com a cavidade uterina no local de uma cicatriz anterior de cesárea. O defeito pode ser classificado como pequeno ou grande, dependendo da espessura da parede miometrial deficiente. Embora geralmente assintomático, seu principal sintoma é o sangramento uterino anormal ou pós-menstrual; a dor pélvica crônica também pode ocorrer. Infertilidade, placenta acreta ou prévia, deiscência de cicatriz, ruptura uterina e gravidez ectópica em cicatriz de cesárea prévia também podem aparecer como complicações dessa condição. Os fatores de risco para desenvolvimento da istmocele comprovados até o momento incluem útero retroverso e múltiplas cesarianas. No entanto, fatores como localização mais inferior de uma cesárea prévia, fechamento incompleto da histerotomia, aderências precoces na parede uterina e predisposição genética também podem contribuir para o desenvolvimento de um nicho. Como não existem critérios definitivos para o diagnóstico de uma istmocele, vários métodos de imagem podem ser usados para avaliar a integridade da parede uterina e, assim, diagnosticar uma istmocele. Entretanto, ultrassonografia transvaginal e sono-histerografia com infusão salina surgem como métodos específicos, sensíveis e custo-efetivos para o diagnóstico de istmocele. O tratamento inclui manejo clínico ou cirúrgico, dependendo do tamanho do defeito, da presença de sintomas, da presença de infertilidade secundária e de planos de gravidez. O manejo cirúrgico inclui abordagens minimamente invasivas como histeroscopia, laparoscopia ou transvaginal, de acordo com o tamanho do defeito.

Efeito do tamoxifeno sobre o endométrio em pacientes com câncer de mama na pós-menopausa / Effect of tamoxifen on the endometrium in post-menopausal patients with breast cancer

O trabalho tem como objetivo discutir, através de uma revisão da literatura, as influências do tamoxifeno sobre as alterações do padrão endometrial em pacientes com câncer de mama na pós-menopausa. Além de caracterizar os principais padrões endometriais e relacioná-los ao câncer de endométrio, são descritas também as recomendações da literatura vigente para a monitorização e seguimento destas pacientes. A literatura especializada demonstra claramente a relevância do acompanhamento clínico rigoroso destas mulheres pelo risco aumentado de câncer endometrial; no entanto, ainda não há consenso sobre qual o melhor exame de rastreio ou a periodicidade de realização do mesmo. Conclui-se que a prioridade é o exame clínico anual e orientação das pacientes quanto à sintomatologia, principalmente quanto à presença de sangramento vaginal. A partir destes sintomas, dá-se prosseguimento com investigação mais detalhada.(AU)

The present work aims to discuss, through a literature review, the influence of tamoxifen use in endometrial pattern changes in postmenopausal patients with breast cancer. In addition, to characterize the main endometrial patterns and relate them to endometrial cancer was a secondary objective. This review describes the recommendations of the current literature for endometrial monitoring of these patients. The literature clearly demonstrated to be relevant the clinical monitoring of these patients, because the increased risk of endometrial cancer. However, there is no consensus about which is the best tracking exam or the timing of completion of it. It was concluded that the priority is an annual clinical checkup for symptoms, especially the presence of vaginal bleeding; further, detailed investigation will depend on which symptoms are presented.(AU)

Association between low bone mass and calcium and caffeine intake among perimenopausal women in Southern Brazil: cross-sectional study.

CONTEXT AND OBJECTIVE: Osteoporosis is a skeletal abnormality characterized by reduction and alteration of bone microarchitecture that results in increased fragility and greater predisposition to fractures. Age and low bone mass are the main non-modifiable risk factors for osteoporotic fractures. The modifiable factors include sedentary lifestyle, inadequate calcium intake, excessive alcohol and/or caffeine consumption, smoking and low body weight. The aim here was to evaluate the association between low bone mass and calcium and caffeine intake among perimenopausal women in Southern Brazil. DESIGN AND SETTING: Cross-sectional study conducted in Porto Alegre and Canoas, Rio Grande do Sul, Brazil. METHODS: Women (n = 155) of mean age 53.6 ± 9.5 years were evaluated through a cross-sectional study in Southern Brazil. Food frequency questionnaires, bone mass evaluation using calcaneal ultrasound and anthropometric assessment were used. RESULTS: The prevalence of overweight was 67.7%. In the bone mass screening, 30.3% had low bone mass and 4.5% had osteoporosis. The median calcium intake was 574.94 mg/day and the caffeine intake was 108.11 mg/day. No association was found between bone mass and anthropometric parameters, calcium intake or caffeine intake. It was found that 38.4% of the women had low bone mass. CONCLUSIONS: No association was found between calcium and caffeine intake and bone mass. High prevalence of low bone mass was observed.

Association between low bone mass and calcium and caffeine intake among perimenopausal women in Southern Brazil: cross-sectional study / Associacao entre baixa massa ossea e ingestao de calcio e cafeina em mulheres climatericas na regiao Sul do Brasil: estudo transversal

CONTEXT AND OBJECTIVE: Osteoporosis is a skeletal abnormality characterized by reduction and alteration of bone microarchitecture that results in increased fragility and greater predisposition to fractures. Age and low bone mass are the main non-modifiable risk factors for osteoporotic fractures. The modifiable factors include sedentary lifestyle, inadequate calcium intake, excessive alcohol and/or caffeine consumption, smoking and low body weight. The aim here was to evaluate the association between low bone mass and calcium and caffeine intake among perimenopausal women in Southern Brazil. DESIGN AND SETTING: Cross-sectional study conducted in Porto Alegre and Canoas, Rio Grande do Sul, Brazil. METHODS: Women (n = 155) of mean age 53.6 ± 9.5 years were evaluated through a cross-sectional study in Southern Brazil. Food frequency questionnaires, bone mass evaluation using calcaneal ultrasound and anthropometric assessment were used. RESULTS: The prevalence of overweight was 67.7%. In the bone mass screening, 30.3% had low bone mass and 4.5% had osteoporosis. The median calcium intake was 574.94 mg/day and the caffeine intake was 108.11 mg/day. No association was found between bone mass and anthropometric parameters, calcium intake or caffeine intake. It was found that 38.4% of the women had low bone mass. CONCLUSIONS: No association was found between calcium and caffeine intake and bone mass. High prevalence of low bone mass was observed. .

CONTEXTO E OBJETIVO: A osteoporose é uma alteração esquelética caracterizada pela redução e pela alteração da microarquitetura óssea, que resultam em aumento da fragilidade e maior predisposição a fraturas. A idade e a baixa massa óssea são os principais fatores de risco não modificáveis para fraturas osteoporóticas. Os fatores modificáveis incluem sedentarismo, inadequada ingestão de cálcio, excessivo consumo de álcool e/ou cafeína, tabagismo e baixo peso corporal. O objetivo foi avaliar associação entre baixa massa óssea e ingestão de cálcio e cafeína por mulheres climatéricas no Sul do Brasil. TIPO DE ESTUDO E LOCAL: Estudo transversal realizado em Porto Alegre e Canoas, Rio Grande do Sul, Brasil. MÉTODOS: Mulheres (n = 155) com idade média de 53,6 ± 9,5 anos foram avaliadas em um estudo transversal na região Sul do Brasil. Foram utilizados questionários de frequência alimentar, avaliação da massa óssea por ultrassonometria de calcâneo e avaliação antropométrica. RESULTADOS: A preval ência de sobrepeso foi de 67,7%. No rastreamento de massa óssea, 30,3% apresentou baixa massa óssea e 4,5%, osteoporose. A ingestão mediana de cálcio foi de 574,94 mg/dia e de cafeína foi de 108,11 mg/dia. Não foi encontrada associação entre massa óssea e os parâmetros antropométricos, ingestão de cálcio ou de cafeína. Verificou-se que 38,4% das mulheres apresentaram perda de massa óssea. CONCLUSÕES: Não foi encontrada associação entre a ingestão de cálcio e cafeína com a massa óssea. Foi observada alta prevalência de baixa massa óssea. .

[Chromosomal abnormalities in couples with history of recurrent abortion]. / Anormalidades cromossômicas em casais com história de aborto recorrente.

PURPOSE: To asses the prevalence and clinical characteristics of couples with history of recurrent spontaneous abortion and chromosome abnormality, attended at the present service. METHODS: All the couples referred to our service due to history of recurrent spontaneous abortion, from January 1975 to June 2008, were evaluated. Only the ones whose chromosome karyotype analysis by GTG bands has been successfully made were included in the study. Clinical data on their age, as well as on the number of abortions, stillbirth, multiple malformations, livebirth per couple, and the result of the karyotype exam were collected. Fisher's exact test (p<0.05) has been used to compare the incidence of chromosome alterations found in our study, with data in the literature. RESULTS: There were 108 couples in the sample. Their ages varied from 21 to 58 years old among the men (average of 31.4 years old), and from 19 to 43 among the women (average of 29.9 years old). In ten couples, one of the mates (9.3%) presented chromosome alterations, which corresponded respectively to three cases (30%) of reciprocal translocation [two of t(5;6) and one of t(2;13)], two (20%) of Robertsonian translocation [two of der(13;14) and one of der(13;15)], five(50%) of mosaicism (mos) [two cases of mos 45,X/46,XX, one of mos 46,XX/47,XXX, one of mos 46,XY/47,XXY and one of mos 46,XY/47,XYY] and one (10%) of chromosome inversion [inv(10)]. In one of the couples, the female presented two concomitant alterations: t(2;13) and der(13;14). Chromosome abnormalities were found in 5% of the couples with a history of two abortions, in 10.3% with three abortions, and in 14.3% with four or more abortions. CONCLUSIONS: The incidence of chromosome abnormalities seen in our study (9.3%) was similar to most of the studies carried out in the last 20 years, varying from 4.8 to 10.8%. Nevertheless the high percentage of patients with mosaicism in our sample, has called our attention. It is believed that this fact may be associated to the high number of metaphases ordinarily analyzed in the present service.

Anormalidades cromossômicas em casais com história de aborto recorrente / Chromosomal abnormalities in couples with history of recurrent abortion

OBJETIVO: verificar a prevalência e as características clínicas de casais com história de abortos de repetição e anormalidade cromossômica atendidos em nosso serviço. MÉTODOS: foram avaliados retrospectivamente todos os casais encaminhados de janeiro de 1975 a junho de 2008 por história de abortos de repetição. Foram incluídos no estudo somente aqueles casais, em que a análise cromossômica feita com o cariótipo por bandas GTG foi realizada com sucesso. Foram coletados dados clínicos referentes às suas idades, bem como o número de abortamentos, natimortos, crianças polimalformadas, nativivos por casal e resultado do exame de cariótipo. Para comparação da frequência das alterações cromossômicas encontradas em nosso estudo com as da literatura, bem como entre os diferentes subgrupos de nossa amostra, foi utilizado o teste exato de Fisher (p<0,05). RESULTADOS: a amostra foi composta de 108 casais. As idades variaram de 21 a 58 anos entre os homens (média de 31,4 anos) e de 19 a 43 anos entre as mulheres (média de 29,9 anos). O número de abortos oscilou de dois a nove (média de 3,2). Alterações cromossômicas foram observadas em um dos parceiros em dez casais (9,3%) e corresponderam, respectivamente, a três casos (30%) de translocação recíproca [dois de t(5;6) e um de t(2;13)], dois (20%) de translocação Robertsoniana [um de der(13;14) e um de der(13;15)], cinco (50%) de mosaicismo (mos) [dois casos de mos 45,X/46,XX, um de mos 46,XX/47,XXX, um de mos 46,XY/47,XXY e um de mos 46,XY/47,XYY] e um (10%) de inversão cromossômica [inv(10)]. Em um dos casais, a parceira apresentava duas alterações concomitantes: t(2;13) e der(13;14). Anormalidades cromossômicas foram verificadas em 5% dos casais com história de dois abortamentos, em 10,3% com três abortos e 14,3% com quatro ou mais abortos...

PURPOSE: to asses the prevalence and clinical characteristics of couples with history of recurrent spontaneous abortion and chromosome abnormality, attended at the present service. METHODS: all the couples referred to our service due to history of recurrent spontaneous abortion, from January 1975 to June 2008, were evaluated. Only the ones whose chromosome karyotype analysis by GTG bands has been successfully made were included in the study. Clinical data on their age, as well as on the number of abortions, stillbirth, multiple malformations, livebirth per couple, and the result of the karyotype exam were collected. Fisher’s exact test (p<0.05) has been used to compare the incidence of chromosome alterations found in our study, with data in the literature. RESULTS: there were 108 couples in the sample. Their ages varied from 21 to 58 years old among the men (average of 31.4 years old), and from 19 to 43 among the women (average of 29.9 years old). In ten couples, one of the mates (9.3%) presented chromosome alterations, which corresponded respectively to three cases (30%) of reciprocal translocation [two of t(5;6) and one of t(2;13)], two (20%) of Robertsonian translocation [two of der(13;14) and one of der(13;15)], five(50%) of mosaicism (mos) [two cases of mos 45,X/46,XX, one of mos 46,XX/47,XXX, one of mos 46,XY/47,XXY and one of mos 46,XY/47,XYY] and one (10%) of chromosome inversion [inv(10)]. In one of the couples, the female presented two concomitant alterations: t(2;13) and der(13;14). Chromosome abnormalities were found in 5% of the couples with a history of two abortions, in 10.3% with three abortions, and in 14.3% with four or more abortions. CONCLUSIONS: the incidence of chromosome abnormalities seen in our study (9.3%) was similar to most of the studies carried out in the last 20 years, varying from 4.8 to 10.8%...

[Amenorrhea and X chromosome abnormalities]. / Amenorréia e anormalidades do cromossomo X.

PURPOSE: to correlate the clinical manifestations of patients with amenorrhea and X chromosome abnormalities. METHODS: a retrospective analysis of the clinical and laboratorial findings of patients with amenorrhea and abnormalities of X chromosome, attended between January 1975 and November 2007 was performed. Their anthropometric measures were evaluated through standard growth tables, and, when present, minor and major anomalies were noted. The chromosomal study was performed through the GTG banded karyotype. RESULTS: from the total of 141 patients with amenorrhea, 16% presented numerical and 13% structural abnormalities of X chromosome. From these patients with X chromosome abnormalities (n=41), 35 had a complete clinical description. All presented hypergonadotrophic hypogonadism. Primary amenorrhea was observed in 24 patients, 91.7% of them with a Turner syndrome phenotype. Despite a case with Xq22-q28 deletion, all patients with this phenotype presented alterations involving Xp (one case with an additional cell lineage 46,XY). The two remaining patients with only primary amenorrhea had proximal deletions of Xq. Among the 11 patients with secondary amenorrhea, 54.5% presented a Turner phenotype (all with isolated or mosaic X chromosome monosomy). Patients with phenotype of isolated ovarian failure had only Xq deletions and X trisomy. CONCLUSIONS: the cytogenetic analysis must always be performed in women with ovarian failure of unknown cause, even in the absence of clinical dysmorphic features. This analysis is also extremely relevant in syndromic patients, because it can either confirm the diagnosis or identify patients in risk, like the cases involving a 46,XY lineage.

Amenorréia primária e cariótipo XY: identificando pacientes em risco / Primary amenorrhea and XY karyotype: identifying patients in risk

OBJETIVO: verificar a prevalência e as características clínicas de pacientes com amenorréia primária e cariótipo XY avaliadas em nosso Serviço com o intuito de identificar achados que possam auxiliar em seu reconhecimento. MÉTODOS: no período de Janeiro de 1975 a Novembro de 2007, foram avaliadas 104 pacientes com amenorréia primária. Para todos os casos foi realizada a análise pelo cariótipo por bandas GTG. Destas, 21 (20,2%) apresentavam uma constituição 46,XY. Contudo, duas foram excluídas do estudo por terem prontuários incompletos. Das 19 pacientes que compuseram a amostra, a maior parte veio encaminhada pela ginecologia (63,2%). Suas idades variaram entre 16 e 41 anos (média de 22,1 anos). Realizou-se uma coleta de dados sobre sua história familiar e pregressa, exame físico e resultados de exames complementares. Para determinação dos seus diagnósticos levaram-se em consideração essas informações. RESULTADOS: a síndrome de resistência aos androgênios foi o diagnóstico predominante (n=12; 63,2%). Cinco pacientes (26,3%) apresentavam disgenesia gonadal pura XY (DGP XY), uma (5,3%) deficiência de 17-alfa hidroxilase e uma (5,3%) deficiência de 5-alfa redutase. Achados clínicos freqüentemente observados nessas pacientes incluíram desenvolvimento anormal dos caracteres sexuais secundários (n=19), agenesia uterina com vagina em fundo de saco (n=14), história familiar de amenorréia (n=8) e gônadas palpáveis no canal inguinal (n=5). Duas delas apresentavam história de hérnia inguinal. Hipertensão arterial sistêmica foi diagnosticada somente na paciente com deficiência de 17-alfa hidroxilase, e malignização gonadal, naquela com DGP XY. CONCLUSÕES: a freqüência de pacientes com cariótipo XY (20%) foi superior à usualmente descrita na literatura (3 a 11%). Acreditamos que isso tenha relação com a forma de encaminhamento das pacientes ao Serviço...

PURPOSE: to verify the prevalence and clinical characteristics of patients with primary amenorrhea and XY caryotype, evaluated in our Service, aiming at identifying findings which could help their recognition. METHODS: from January 1975 to November 2007, 104 patients with amenorrhea were evaluated. All the cases were analyzed by the caryotype by GTG bands. Among them, 21 (20.2%) presented a XY 46 constitution. Nevertheless, two of them were excluded from the study, because of incomplete data in their patient's chart. Most of the 19 patients who formed the sample had been referred to us by the gynecology clinics (63.2%). Their ages varied from 16 to 41 years old (an average of 22.1). Data were collected about their family and previous history, physical examination and results of complementary exams and the information was taken into consideration to determine the diagnosis. RESULTS: the predominant diagnosis was resistance to androgens syndrome (n=12; 63.2%); five patients (25.3%) presented XY pure gonadal dysgenesis (XY PGD), one (5.3%) 17 alpha-hydroxylase deficiency, and one (5.3%), 5 alpha-reductase deficiency. Clinical findings frequently found in these patients included abnormal development of secondary sexual characters (n=19), uterine agenesia with a blind vagina (n=14), family history of amenorrhea (n=8), and palpable gonads in the inguinal canal (n=5). Two of them presented a history of inguinal hernia. Systemic arterial hypertension was only diagnosed in the patient with 17 alpha-hydroxylase deficiency, and gonadal malignization, in the one with XY PGD. CONCLUSIONS: the rate of patients with XY caryotype (20%) was higher than the one described in the literature (3 to 11%). It is believed that this fact is related to the way patients are usually referred to our service. Some findings from the clinical history and from the physical examination should be evaluated as a routine in individuals with primary amenorrhea...

Chlamydia trachomatis e gestação / Chlamydia trachomatis and pregnancy

A infecção pela Chlamydia trachomatis é uma das mais freqüentes e curáveis doenças bacterianas de transmissão sexual, constatação que traz consigo sérias conseqüências para a saúde reprodutiva da mulher. A prevalência da infecção do trato genital inferior pela C. trachomatis varia, conforme dados obtidos na literatura, entre 2 e 25 porcento, sendo mais prevalente em adultos jovens. A infecção é assintomática em 75 porcento das mulheres e em pelo menos 50 porcento dos homens, portanto, a infecção do trato genital inferior por esse agente permanece indetectável em sua grande maioria. Essa infecção situa-se entre as causas mais comuns de doença inflamatória pélvica (DIP), gravidez ectópica e infertilidade. Há aumento de evidências de que a infecção por C. trachomatis pode acarretar desfechos adversos na gestação, como abortamento, infecção intra-uterina, natimorto, prematuridade e ruptura prematura e membranas. Essa atualização focalizará a epidemiologia, características clínicas, fisiopatologia e seqüelas reprodutivas da infecção por esse agente, abordando de modo geral os métodos de triagem e o tratamento clínico preconizado.

Chlamydia trachomatis is the most common and curable bacterial disease sexually transmitted, in many countries, a fact that has serious consequences for the reproductive women's health. The prevalence of the lower tract infection with C. trachomatis varies from 2 percent to 25 percent and is higher among young people. The infection is asymptomatic in 75 percent of women and at least 50 percent of men, thus the lower genital tract infection remains largely undetected. It is a major cause of pelvic inflammatory disease (PID), which in turn is a major cause of infertility and ectopic pregnancy. It has been also demonstrated that the infection for C. trachomatis can cause adverse outcomes for the pregnancy, as abortion, intrauterine infection, stillborn, prematurity and premature rupture of membranes. This updating highlights the epidemiology, pathophysiology, clinical features and reproductive sequelae of the infection. Current screening and management methods are outlined.(au)

[Primary amenorrhea and XY karyotype: identifying patients in risk]. / Amenorréia primária e cariótipo XY: identificando pacientes em risco.

PURPOSE: to verify the prevalence and clinical characteristics of patients with primary amenorrhea and XY karyotype, evaluated in our Service, aiming at identifying findings which could help their recognition. METHODS: from January 1975 to November 2007, 104 patients with amenorrhea were evaluated. All the cases were analyzed by the karyotype by GTG bands. Among them, 21 (20.2%) presented a XY 46 constitution. Nevertheless, two of them were excluded from the study, because of incomplete data in their patient's chart. Most of the 19 patients who formed the sample had been referred to us by the gynecology clinics (63.2%). Their ages varied from 16 to 41 years old (an average of 22.1). Data were collected about their family and previous history, physical examination and results of complementary exams and the information was taken into consideration to determine the diagnosis. RESULTS: the predominant diagnosis was resistance to androgens syndrome (n=12; 63.2%); five patients (25.3%) presented XY pure gonadal dysgenesis (XY PGD), one (5.3%) 17 alpha-hydroxylase deficiency, and one (5.3%), 5 alpha-reductase deficiency. Clinical findings frequently found in these patients included abnormal development of secondary sexual characters (n=19), uterine agenesia with a blind vagina (n=14), family history of amenorrhea (n=8), and palpable gonads in the inguinal canal (n=5). Two of them presented a history of inguinal hernia. Systemic arterial hypertension was only diagnosed in the patient with 17 alpha-hydroxylase deficiency, and gonadal malignization, in the one with XY PGD. CONCLUSIONS: the rate of patients with XY karyotype (20%) was higher than the one described in the literature (3 to 11%). It is believed that this fact is related to the way patients are usually referred to our service. Some findings from the clinical history and from the physical examination should be evaluated as a routine in individuals with primary amenorrhea. This way, there would be a more precocious detection of XY 46 patients, and a better clinical management of them, as a consequence.

Amenorréia e anormalidades do cromossomo X / Amenorrhea and X chromosome abnormalities

OBJETIVO: correlacionar as manifestações clínicas de pacientes com amenorréia e anormalidades do cromossomo X. MÉTODOS: realizou-se uma análise retrospectiva dos achados clínicos e laboratoriais das pacientes com amenorréia e anormalidades do cromossomo X, atendidas entre janeiro de 1975 e novembro de 2007. Suas medidas antropométricas foram avaliadas através de tabelas de crescimento padrão, sendo que, quando presentes, dismorfias menores e maiores foram anotadas. O estudo dos cromossomos foi realizado através do cariótipo com bandamento GTG. RESULTADOS: do total de 141 pacientes com amenorréia, 16 por cento apresentavam anormalidades numéricas e 13 por cento estruturais do cromossomo X. Destas pacientes com anormalidade do X (n=41), 35 possuíam descrição clínica completa. Todas elas apresentavam hipogonadismo hipergonadotrófico. Amenorréia primária foi observada em 24 pacientes, das quais 91,7 por cento com fenótipo de síndrome de Turner. Com exceção de um caso com deleção Xq22-q28, todas as demais pacientes com este fenótipo apresentavam alterações envolvendo Xp (uma com uma linhagem 46,XY associada). Os dois casos restantes com apenas amenorréia primária possuíam deleções proximais de Xq. Entre as 11 pacientes com amenorréia secundária, 54,5 por cento apresentavam fenótipo de Turner (todas com monossomia do X isolada ou em mosaico). Entre aquelas com fenótipo de falência ovariana isolada observaram-se somente deleções Xq e trissomia do X. CONCLUSÕES: a análise cromossômica deve sempre ser realizada em mulheres com falência ovariana de causa não conhecida, mesmo na ausência de achados dismórficos. Esta também é de extrema importância em pacientes sindrômicas, pois, além de confirmar o diagnóstico, é capaz de identificar pacientes em risco, como nos casos com uma linhagem 46,XY.

PURPOSE: to correlate the clinical manifestations of patients with amenorrhea and X chromosome abnormalities. METHODS: a retrospective analysis of the clinical and laboratorial findings of patients with amenorrhea and abnormalities of X chromosome, attended between January 1975 and November 2007 was performed. Their anthropometric measures were evaluated through standard growth tables, and, when present, minor and major anomalies were noted. The chromosomal study was performed through the GTG banded karyotype. RESULTS: from the total of 141 patients with amenorrhea, 16 percent presented numerical and 13 percent structural abnormalities of X chromosome. From these patients with X chromosome abnormalities (n=41), 35 had a complete clinical description. All presented hypergonadotrophic hypogonadism. Primary amenorrhea was observed in 24 patients, 91.7 percent of them with a Turner syndrome phenotype. Despite a case with Xq22-q28 deletion, all patients with this phenotype presented alterations involving Xp (one case with an additional cell lineage 46,XY). The two remaining patients with only primary amenorrhea had proximal deletions of Xq. Among the 11 patients with secondary amenorrhea, 54.5 percent presented a Turner phenotype (all with isolated or mosaic X chromosome monosomy). Patients with phenotype of isolated ovarian failure had only Xq deletions and X trisomy. CONCLUSIONS: the cytogenetic analysis must always be performed in women with ovarian failure of unknown cause, even in the absence of clinical dysmorphic features. This analysis is also extremely relevant in syndromic patients, because it can either confirm the diagnosis or identify patients in risk, like the cases involving a 46,XY lineage.