Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype.Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60% of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30%), the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions. RESUMOA síndrome de Turner (ST) é uma das aneuploidias mais comuns em humanos e está presente em 1:2000 recém-nascidas com fenótipo feminino.Citogeneticamente, a síndrome é caracterizada por uma monossomia de cromossomo sexual (45,X) em 50-60% dos casos. Os demais casos apresentam mosaicismo com uma linhagem celular 45,X acompanhada de outra(s) com o cromossomo X ou Y íntegros ou com alterações estruturais. A presença de material do cromossomo Y em pacientes com gônadas disgenéticas aumenta o risco de tumores gonadais, especialmente gonadoblastoma. A consideração mais importante diz respeito ao elevado risco de desenvolvimento de gonadoblastoma ou outros tumores e a virilização na puberdade se sequências cromossomo Y-específicas estiverem presentes. O papel do cromossomo Y na oncogênese dos cânceres humanos ainda é controverso.Apesar de o gonadoblastoma ser um tumor benigno, ele pode transformar-se num disgerminoma invasivo em 60% dos casos e também em outras formas malignas de tumores de células germinativas. Apesar de alguns autores questionarem a alta incidência (em torno de 30%) de gonadoblastoma, o risco do desenvolvimento de qualquer tipo de lesão gonadal, tumoral ou não, justifica a pesquisa de sequências do cromossomo Y por PCR (reação de polimerase em cadeia), técnica de alta sensibilidade, baixo custo e fácil execução. Em conclusão, o mosaicismo cromossômico tanto do X como do Y é um fato comum na ST e a detecção de sequências cromossomo Y-específicas nas portadoras, indepen...

CONTEXT AND OBJECTIVE: Serological testing for CA125 has been widely used to detect endometriosis and to monitor its progression. However, controversy still exists regarding the usefulness of the plasma CA125 assay for diagnosing endometriosis. Furthermore, some authors have described superficial endometriosis as a cyclical and normal phenomenon in women's lives, and have indicated that development and progression of this disease would only occur in some women as a result of immunological changes. This study aimed to determine the frequency of endometriosis and the correlation between serum CA125 levels and the presence of endometriotic lesions in the peritoneum of asymptomatic fertile patients. DESIGN AND SETTING:Cross-sectional study at the Family Planning outpatient clinic of Faculdade de Medicina do ABC. METHODS:Eighty asymptomatic fertile patients who underwent tubal sterilization surgery were studied. Blood and peritoneum samples were collected. CA125 levels were measured from blood samples, and peritoneum biopsies were studied using histopathological tests. RESULTS:Histopathological evaluation of the peritoneum revealed that 16.25% of the patients had minimal or mild endometriosis. There was no statistically significant difference in CA125 levels between patients with and without endometriosis. CONCLUSION:The presence of endometriotic lesions in the peritoneum of fertile patients supports the hypothesis that incidental findings of minimal or mild endometriosis may not be of clinical significance, and that the progression of the disease probably occurs as a result of immunological and genetic abnormalities. Serum CA125 levels did not show any diagnostic significance with regard to detecting the disease.RESUMO CONTEXTO E OBJETIVO: O teste sorológico para CA125 tem sido largamente usado para detectar e monitorar a progressão da endometriose, entretanto, a utilidade do ensaio do CA125 plasmático para o diagnóstico da endometriose ainda é controversa. Além disso, alguns autores descreveram a endometriose superficial como sendo um fenômeno cíclico e normal na vida de uma mulher, e que o desenvolvimento e progressão desta doença ocorreriam apenas em algumas mulheres como resultado de alterações imunológicas. Este estudo teve como objetivo determinar a freqüência de endometriose e a correlação entre os níveis séricos de CA125 e a presença de lesões endometrióticas em peritônio de pacientes férteis assintomáticas. TIPO DE ESTUDO E LOCAL: Estudo transversal realizado no Ambulatório de Planejamento Familiar da Faculdade de Medicina do ABC.MÉTODOS: Foram estudadas 80 pacientes férteis assintomáticas submetidas à cirurgia de esterilização tubária. Amostras de sangue e peritônio foram coletadas. Os níveis de CA125 foram medidos a partir das amostras de sangue e as biópsias de peritônio foram estudadas por ensaio histopatológico. RESULTADOS:O estudo histopatológico do peritônio revelou que 16,25% das pacientes apresentavam endometriose mínima e leve. Os níveis de CA125 não demonstraram diferença estatística sign...

Background: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are confl icting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control group, correlating the fi ndings to the chromosomal aneuploidy. Methods: The study comprised 140 patients with Turner Syndrome, of which 36 with chromosome mosaicism and 104 nonmosaics, and a control group of 209 fertile and healthy women without a history of any offspring with aneuploidy. Polymorphisms C677T and A1298C were studied by RFLP-PCR and the results were statistically analyzed. Results: The frequency of genotypes MTHFR 677CC, 677CT and 677TT in the patients with Turner Syndrome and chromosome mosaicism was, respectively, 58.3%, 38.9% and 2.8%. Among the patients with non-mosaic Turner Syndrome, 47.1% presented genotype 677CC, 45.2% genotype 677CT, and 7.7% genotype 677TT. Among the 209 individuals of the control group, genotypes 677CC, 677CT and 677TT were found at the following frequencies: 48.3%, 42.1% and 9.6%, respectively. As for polymorphism A1298C, the patients with Turner

ResumoOBJETIVO: avaliar o impacto do índice de massa corpórea (IMC) nos resultados de FIV/ICSI (Fertilização in vitro/ injeção intracitoplasmática de espermatozoide) obtidos no Serviço de Reprodução Humana da Faculdade de Medicina do ABC. MÉTODOS: estudo retrospectivo que incluiu 488 ciclos de FIV/ICSI de 385 pacientes. As pacientes foram divididas em dois grupos de acordo com o IMC em peso normal (18,5 ≥ IMC <25 kg/m 2 ) e sobrepeso/obesidade (IMC ≥25 kg/m 2 ). Foram avaliados a dose de hormônio folículo-estimulante recombinante (FSHr) utilizada, as taxas de cancelamento dos ciclos por resposta ovariana, e os resultados do laboratório de reprodução assistida como o número de oócitos, número de embriões de boa qualidade, número de embriões transferidos, e as taxas de gravidez, gestação química, abortamento e nascimentos. Para a comparação das variáveis quantitativas entre os grupos foi utilizado o teste t e o teste χ 2 para comparação entre as variáveis qualitativas. Os valores de p<0,05 foram considerados significativos. RESULTADOS: considerando características da indução da ovulação, não houve diferença estatística significante entre os grupos quanto a dose de FSHr utilizada e a taxa de cancelamento, p=0,47 e p=0,85, respectivamente. Quanto aos resultados do laboratório, o número de oócitos recuperados por ciclo foi semelhante entre os grupos (p=0,09), bem como o número de embriões de boa qualidade obtidos e transferidos (p=0,7 e p=0,6). A taxa de gravidez por transferência embrionária foi de 27,6% no grupo com peso normal e 29,6% no grupo com sobrepeso/obesidade (p=0,76). As taxas de abortamento e de nascimentos foram semelhantes entre os grupos: p=0,54 e p=0,94. CONCLUSÃO: o IMC não influenciou os resultados de FIV/ICSI avaliados.Abstract PURPOSE: to evaluate the impact of body mass index (BMI) on in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) outcomes performed at the Human Reproduction Center of Faculdade de Medicina do ABC. METHODS: retrospective data from 488 IVF cycles of 385 patients. Patients were classified into two groups according to BMI: normal weight (18.5-24.9 kg/m 2 ) and overweight/obesity (≥25 kg/m 2 ). We evaluated the dose of recombinant follicle stimulating hormone (FSHr), the cancellation rates for ovarian cycle response, and the results of the assisted reproduction laboratory such as number of oocytes, number of good quality embryos, number of embryos transferred, and pregnancy rates, chemical pregnancy rates, miscarriage rate and live birth rate. The t test was used for comparison of quantitative variables between groups, and the χ 2 test for comparison between qualitative variables. P values <0.05 were considered significant. RESULTS: considering ovulation induction characteristics, there was no statistically significant difference between groups regarding the FSHr dose administered or the cancellation rates, p=0.47 and p=0.85, respectively. Regarding laboratory findings, the number of oocytes retrieved per cycle was similar for both groups (p=0.09), as also was the...

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Objective: To describe the evolution of controlled ovarian hyperstimulation in women with recurrent ovarian endometriomas treated with sclerotherapy. Methods: Twenty-one patients with a laparoscopic diagnosis of stage III or IV endometriosis who had an endometrioma larger than 3 cm before ovarian hyperstimulation for in vitro fertilization were included in the study. After using a GnRH agonist analog for at least 20 days, the cysts were punctured using ultrasound guidance and subsequent ethanol sclerotherapy was performed. Then, the patients were stimulated with 100 or 200 U/day of recombinant follicle stimulating hormone, varying the dose according to the patient's age or history of a previous unilateral oophorectomy. Results: The ovarian cysts had an average diameter of 4.7 ± 1.4 cm and did not recur after aspiration during the ovulation induction. Oocyte extraction occurred after 11 days of hyperstimulation, with 3.95 ± 3.30 oocytes obtained per cycle, on average. Embryo transfer occurred in 71.4% (15/21) of patients, and the pregnancy rate after transfer was 20% (3/15). Conclusion: Aspiration followed by ethanol sclerotherapy prior to in vitro fertilization can be an option for patients who desire a pregnancy and have recurrent endometriomas.

BackgroundSingle nucleotide variants (SNVs) FSHB:c.-211G&gt;T, FSHR:c.919G&gt;A, and FSHR:c.2039G&gt;A were reported to be associated with the variability in FSH and LH levels, and in vitro fertilization (IVF) outcomes. In this study, we aimed to evaluate the effects of FSHB:c.-211G&gt;T, FSHR:c.919G&gt;A, and FSHR:c.2039G&gt;A variants, alone and combined, on the hormonal profile and reproduction outcomes of women with endometriosis.MethodsA cross-sectional study was performed comprising 213 infertile Brazilian women with endometriosis who underwent IVF treatment. Genotyping was performed using TaqMan real-time PCR. Variables were compared according to the genotypes of each variant and genetic models, and the combined effects of the SNVs were evaluated using the multifactorial dimensionality reduction method.ResultsFSHB:c.-211G&gt;T affected LH levels in women with overall endometriosis and minimal/mild disease. FSHR:c.919G&gt;A affected FSH levels in women with overall endometriosis and the number of oocytes retrieved in those with moderate/severe endometriosis. Moreover, the FSHR:c.2039G&gt;A affected FSH levels in women with overall endometriosis, LH levels and total amount of rFSH in those with minimal/mild disease, and number of follicles and number of oocytes retrieved in those with moderate/severe endometriosis. No effect on hormone profile or reproductive outcomes was observed when the genotypes were combined.ConclusionsVariants of the FSHB and FSHR genes separately interfered with the hormonal profiles and IVF outcomes of women with endometriosis.

<b><i>Background/Aims:</i></b> Kisspeptin (KP) is a key player in the regulation of the release of gonadotropin-releasing hormone (GnRH), which increases the secretion of gonadotropin during puberty to establish reproductive function and regulate the hypothalamic-pituitary-gonadal axis. Premature activation of GnRH secretion leads to idiopathic/central gonadotropin-dependent precocious puberty (CPP). We aimed to compare the blood KP concentrations in girls with CPP and healthy controls. <b><i>Methods:</i></b> A systematic review and meta-analysis was performed. We searched MEDLINE, EMBASE, The Cochrane Library, and SciELO. Random-effects model and standardized mean difference (SMD) were used. Heterogeneity was assessed through <i>I</i>². Meta-regression considered patient age, KP fraction, and analytical method for KP measurement. <b><i>Results:</i></b> The 11 studies included comprised 316 CPP patients and 251 controls. Higher KP levels in the CPP group were found (SMD 1.53; CI 95% = 0.56–2.51). Subgroup analysis revealed association with patient age (<i>p</i> = 0.048), indicating a positive correlation between elevation in KP concentration and age in CPP group. A group of patients with precocious thelarche (PT) from 5 of the included studies comprising 121 patients showed higher levels of KP (1.10; −0.25–2.45: CI 95%) and high heterogeneity (<i>I</i>² = 91%). The CPP/PT ratio for KP level indicates KP 36% higher on CPP than PT patients. <b><i>Conclusions:</i></b> A consistent difference in KP levels between girls with CPP and controls was identified. While there are important limitations in KP assays which argue against its use as a diagnostic tool, the KP levels in CPP versus control and PT children are consistent with the predicted mechanisms and pathophysiology of CPP.