ABSTRACT
OBJECTIVE@#To explore the correlation between Fragile X mental retardation gene-1 (FMR1) gene CGG repeats with diminished ovarian reserve (DOR).@*METHODS@#For 214 females diagnosed with DOR, DNA was extracted from peripheral blood samples. FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis.@*RESULTS@#Three DOR patients were found to carry FMR1 premutations, and one patient was found to carry gray zone FMR1 repeats. After genetic counseling, one patient and the sister of another patient, both carrying FMR1 permutations, conceived naturally. Prenatal diagnosis showed that both fetuses have carried FMR1 permutations.@*CONCLUSION@#FMR1 gene permutation may be associated with DOR. Determination of FMR1 gene CGG repeats in DOR patients can provide a basis for genetic counseling and guidance for reproduction.
Subject(s)
Female , Humans , Fragile X Mental Retardation Protein/metabolism , Fragile X Syndrome/genetics , Ovarian Diseases , Ovarian Reserve/genetics , Primary Ovarian Insufficiency/genetics , Trinucleotide Repeats/geneticsABSTRACT
Este artigo visa apresentar ao médico ginecologista (clínico e/ou cirurgião), de forma prática, a normatização internacional da prática da ultrassonografia ginecológica para avaliação das massas anexiais. Desde 2000, o grupo europeu IOTA (International Ovarian Tumor Analysis) vem colhendo dados e difundindo conhecimento nessa área, de forma a padronizar o exame ultrassonográfico. Quais descritores ecográficos devem ser valorizados, como devem ser descritos e medidos, como aplicar o estudo Doppler e como interpretar a presença ou ausência desses descritores ecográficos na diferenciação das massas anexiais benignas de malignas, inferindo o risco de malignidade das massas, tudo isso está bem definido.(AU)
The main aim of this article is to present to gynecologists (clinicians and/or surgeons) the practical international gynecological ultrasound standardization for adnexal masses assessment. Since 2000, European group IOTA (International Ovarian Tumor Analysis) has been collecting data and disseminating knowledge in order to standardize ultrasound examination. It is already well-defined which ultrasound features should be described and measured, how power/color Doppler have to be applied and how the presence or absence of these features can differentiate benign from malign masses, inferring tumors malignancy risk.(AU)
Subject(s)
Humans , Female , Ovarian Diseases/diagnostic imaging , Ovarian Neoplasms/diagnostic imaging , Adnexal Diseases/diagnostic imaging , Ultrasonography/standards , Terminology as TopicABSTRACT
Abstract Purpose To investigate the protective effect of rosmarinic acid (RA) in ovarian ischemia/reperfusion injury using biochemical, histopathological, and immunohistochemical methods. Methods Wistar female rats (n = 32) were randomly divided into four groups: control, ischemia, ischemia-reperfusion, and ischemia-reperfusion with RA. Rosmarinic acid was given at a dose of 50 mg/kg by oral gavage three hours after reperfusion. Malondialdehyde (MDA) levels and glutathione peroxidase (GSH-Px) activities were determined in the ovary tissue homogenates for each rat. Results In the ischemia-reperfusion with RA group, the epithelial cells are regularly regulated at the periphery, and the degenerative changes in preantral and antral follicle cells are reduced. Follicle cells and cells in the corpus luteum showed a decrease in vascular endothelial growth factor (VEGF) expression, while VEGF demonstrated a positive reaction in vascular endothelial cells and stromal cells. The TNF-α expression due to the decreased degenerative effect and inflammation was positive in the macrophage cells. The expression of caspase-3 as an apoptosis change was negative in antral follicle cells and granular cells around the antral follicle. Conclusion Different doses of RA may be useful in preventing ischemic damage after vascularization, inflammation, and apoptotic development after ischemia/reperfusion.
Subject(s)
Animals , Female , Rats , Ovarian Diseases , Reperfusion Injury , Cinnamates , Vascular Endothelial Growth Factor A , Depsides , Ovarian Diseases/drug therapy , Torsion Abnormality/drug therapy , Cinnamates/therapeutic use , Cinnamates/pharmacology , Rats, Wistar , Endothelial Cells , Depsides/therapeutic use , Depsides/pharmacology , Inflammation , Malondialdehyde , AntioxidantsABSTRACT
SUMMARY OBJECTIVE The purpose of this study is to evaluate the efficacy of the combination of gynecologic imaging reporting and data system (GI-RADS) ultrasonographic stratification and three-dimensional contrast-enhanced ultrasonography (3D-CEUS) in order to distinguish malignant from benign ovarian masses. METHODS In this study, 102 patients with ovarian masses were examined by both two-dimensional ultrasound(2D-US) and 3D-CEUS. Sonographic features of ovarian masses obtained from 3D-CEUS were analyzed and compared with 2D-US. All patients with ovarian masses were confirmed by operational pathology or long-term follow-up results. RESULTS (1)The Chi-square test and multiple Logistic regression analysis confirmed that there were only eight independent predictors of malignant masses, including thick septa (≥3mm), thick papillary projections(≥7mm), solid areas, presence of ascites, central vascularization, contrast enhancement, distribution of contrast agent, and vascular characteristics of the solid part and their odds ratios which were 5.52, 5.39, 4.94, 4.34, 5.92, 7.44, 6.09, and 7.67, respectively (P<0.05). (2)These eight signs were used to combine the GI-RADS with 3D-CEUS scoring system in which the corresponding value of the area under the curve (AUC) was 0.969, which was superior to using GI-RADS lonely (Z-value=1.64, P<0.025). Using 4 points as the cut-off, the scoring system showed the performance was clearly better than using GI-RADS alone (P<0.05). (3) The Kappa value was 0.872 for two different clinicians with equal experience. CONCLUSIONS The combination of GI-RADS and 3D-CEUS scoring system would be a more effective method to distinguish malignant from benign ovarian masses.
RESUMO OBJETIVO O objetivo deste estudo é avaliar a eficácia da combinação da estratificação por ultrassonografia usando o Sistema de Relatórios e Dados de Imagem Ginecológica (GI-RADS) e ultrassonografia 3D com contraste (3D-CEUS) para diferenciar massas ovarianas benignas de malignas. METODOLOGIA Neste estudo, 102 pacientes com massas ovarianas foram examinadas usando ultrassonografia bidimensional (2D-US) e 3D-CEUS. As características ultrassonográficas das massas ovarianas obtidas com 3D-CEUS foram analisadas e comparadas com de 2D-US. Todos os pacientes com massas ovarianas tiveram o diagnóstico confirmado pelos resultados de patologia cirúrgica ou acompanhamento de longo prazo. RESULTADOS (1) O teste qui-quadrado e a regressão logística múltipla confirmaram a existência de apenas oito preditores independentes de massas malignas, incluindo septos espessos (≥3mm), projeções papilares espessas (≥7mm), áreas sólidas, presença de ascite, vascularização central, aumento de contraste, distribuição do agente de contraste e características vasculares da parte sólida e suas razões de possibilidades (OR), que foram 5,52, 5,39, 4,94, 4,34, 5,92, 7,44, 6,09 e 7.67, respectivamente (P< 0,05). (2) Esses oito preditores foram utilizados para combinar o GI-RADS com o sistema de escores da 3D-CEUS, para o qual o valor correspondente da área sob a curva (AUC) foi de 0,969, superior ao uso exclusivo do GI-RADS (valor de Z = 1,64, P < 0,025). Usando 4 pontos como corte, o sistema de escores mostrou que o desempenho foi muito melhor do que com o uso exclusivo do GI-RADS (P < 0,05). (3) O valor de Kappa foi 0,872, obtido por dois médicos diferentes com igual experiência. CONCLUSÃO A combinação do GI-RADS e do sistema de pontuação da 3D-CEUS é um método mais eficaz para distinguir massas ovarianas benignas de malignas.
Subject(s)
Humans , Female , Adolescent , Adult , Young Adult , Ovarian Diseases/diagnostic imaging , Ovarian Neoplasms/diagnostic imaging , Ovarian Diseases/pathology , Ovarian Neoplasms/pathology , Reference Values , Adenocarcinoma/pathology , Adenocarcinoma/diagnostic imaging , Logistic Models , Predictive Value of Tests , Reproducibility of Results , Ultrasonography/methods , Sensitivity and Specificity , Diagnosis, Differential , Middle AgedABSTRACT
SUMMARY OBJECTIVE: Ovarian endometriosis seriously affects the quality of life of females, and long non-coding RNA lncRNA urothelial carcinoma-associated 1 (UCA1) plays pivotal roles in the pathogenesis of various ovarian diseases. However, the involvement of lncRNA UCA1 in ovarian endometriosis remains unknown to date. Therefore, the present study aims to study the role of UCA1 in ovarian endometriosis. METHODS: A total of 98 patients with ovarian endometriosis and 28 healthy females were included. The expression of lncRNA UCA1 in ectopic and eutopic endometrium tissues of ovarian endometriosis patients and controls was detected using qRT-PCR. A ROC curve analysis was performed to evaluate the diagnostic values of serum lncRNA UCA1 for ovarian endometriosis. Patients were followed up for 2 years after discharge, and the recurrence of ovarian endometriosis was recorded. RESULTS: The expression level of lncRNA UCA1 was significantly higher in ectopic endometrium tissues than in paired eutopic endometrium tissues for most of the patients. The serum lncRNA UCA1 level showed no significant correlations with either patients' age or living habits. After the treatment, the serum lncRNA UCA1 level increased, and serum levels of lncRNA UCA1 on the day of discharge were significantly lower in patients with recurrence than those in patients without recurrence. Conclusion: The downregulation of lncRNA UCA1 is involved in the pathogenesis of ovarian endometriosis and may serve as a promising diagnostic and prognostic biomarker for the disease.
RESUMO OBJETIVO: A endometriose ovariana afeta seriamente a qualidade de vida das mulheres, e o carcinoma urotelial 1 de urcélio de RNA não codificador longo 1 (UCA1) desempenha um papel crucial na patogênese de várias doenças ovarianas. No entanto, o envolvimento do lncRNA UCA1 na endometriose ovariana permanece desconhecido até o momento. Portanto, o presente estudo tem como objetivo estudar o papel do UCA1 na endometriose ovariana. Métodos: Um total de 98 pacientes com endometriose ovariana e de 28 mulheres saudáveis foi incluído. A expressão de lncRNA UCA1 em tecidos de endométrio ectópico e eutópico de pacientes com endometriose ovariana e controles foi detectada por qRT-PCR. A análise da curva ROC foi realizada para avaliar os valores diagnósticos do lncRNA UCA1 sérico para endometriose ovariana. Os pacientes foram acompanhados por dois anos após a alta, e a recorrência da endometriose ovariana foi registrada. RESULTADOS: O nível de expressão do lncRNA O UCA1 foi significativamente maior nos tecidos do endométrio ectópico do que nos tecidos do endométrio eutópico pareados para a maioria dos pacientes. O nível sérico de UCA1 foi diminuído com a progressão da endometriose ovariana. O soro UCA1 pode ser usado para diagnosticar com precisão a endometriose ovariana. O nível sérico de UCA1 não apresentou correlações significativas com a idade ou com os hábitos de vida dos pacientes. Após o tratamento, o nível sérico do lncRNA UCA1 foi aumentado, e os níveis séricos de lncRNA UCA1 no dia da alta foram significativamente menores nos pacientes com recidiva do que naqueles sem recorrência. CONCLUSÃO: A regulação negativa do lncRNA UCA1 está envolvida na patogênese da endometriose ovariana e pode servir como um promissor biomarcador diagnóstico e prognóstico para a doença.
Subject(s)
Humans , Female , Adult , Young Adult , Ovarian Diseases/diagnosis , Ovarian Diseases/blood , Down-Regulation , Endometriosis/diagnosis , Endometriosis/blood , RNA, Long Noncoding/blood , Ovarian Diseases/genetics , Recurrence , Reference Values , Biomarkers/blood , Case-Control Studies , Homeopathic Clinical-Dynamic Prognosis , Analysis of Variance , Sensitivity and Specificity , Endometriosis/genetics , Endometrium/pathology , Real-Time Polymerase Chain Reaction , RNA, Long Noncoding/geneticsABSTRACT
Introducción. El tratamiento quirúrgico adecuado para las pacientes pediátricas con lesiones ováricas es heterogéneo, y en las niñas es conveniente conservar los ovarios. El objetivo de este estudio es analizar los hallazgos relacionados con un grupo de pacientes a las que se operó por lesiones ováricas. Pacientes y métodos. Un estudio retrospectivo realizado durante 13 años con 56 pacientes menores de 17 años. Estas pacientes se dividieron en 3 grupos según el diagnóstico de patología ovárica: 25 tenían lesiones funcionales (quistes y torsión), 18 tenían lesiones ováricas epiteliales y 13 tenían tumores germinales. Se comparó a estos tres grupos en términos de menarquia, torsión, edad, duración, tamaño, dolor, tumor, vómitos, menstruación irregular, ubicación y tipo de operación. Resultados. Enestosgrupos,fueronmásfrecuentes los quistes foliculares, los cistoadenomas serosos y los teratomas. La media de edad de las pacientes fue de 12,18 ± 4,84 años. Los síntomas y signos más frecuentes fueron dolor (85,7%) e hinchazón (37,5%) en la región abdominopélvica. Se observó torsión en 21 pacientes (37,5%); la media del tamaño del tumor fue de 10,46 ± 6,55 cm. Se realizó una salpingoovariectomía (SO, por sus siglas en inglés) en 38 pacientes y una resección del quiste (CE, por sus siglas en inglés) en 18 pacientes. Se observaron más casos de torsión en las pacientes premenárquicas que en las menárquicas y en el grupo de lesiones funcionales. Se realizaron más resecciones quirúrgicas en el grupo de lesiones funcionales, y más SO en los grupos de lesiones epiteliales y tumores germinales. Conclusión. Se considera que la torsión y las patologías ováricas funcionales son frecuentes en la edad premenstrual, y las lesiones malignas son muy raras en todos los grupos etarios, por lo que se recomienda preservar la fertilidad en la cirugía.
Introduction. The appropraite surgical treatment to pediatric patients with ovarian lesions are heterogeneous and ovarian preservation is desirable in children. The aim of this study is to the discuss findings related to a set of patients who were operated on for ovarian lesions. Patients and methods. A retrospective study carried out in 13 years on 56 patients under the age of 17. These patients were divided into 3 groups according to ovarian pathologic diagnosis: 25 with functional (cyts and torsion), 18 with epithelial ovarian lesions and 13 with germ cell tumours. These three groups were compared in terms of menarche, torsion, age, duration, size, pain, mass, vomiting, irregular menstruation, location and operation type. Results. Follicle cysts, serous cyst adenomas and teratomas were the most common in these groups. The mean age of the patients was 12.18+4.84 years. The most common symptoms and signs were abdominal-pelvic pain (85.7%) and swelling(37.5%). Torsion was seen in 21 patients (37.5%), mean mass size was found to be 10.46+6.55 cm. A salpingo-oophorectomy (SO) was performed in 38 patients and cyst excision (CE) was performed in 18 patients. In premenarcheal cases, torsion was seen more in menarcheal cases and in the functional lesion group. CE was performed more often in the functional and t SO was performed often in the epithelial and germ cells groups. Conclusion. Torsion and functional ovarian pathologies are thought to be common in premenstrual ages and malign lesions are very rare in all age groups so we recommend ovarian protective surgery should be preferred.
Subject(s)
Humans , Female , Infant , Child, Preschool , Child , Adolescent , Ovarian Cysts/surgery , Ovarian Diseases/surgery , Ovarian Neoplasms/surgery , Neoplasms, Germ Cell and Embryonal/surgery , Organ Preservation/methods , Ovarian Cysts/diagnosis , Ovarian Diseases/diagnosis , Ovarian Neoplasms/diagnosis , Torsion Abnormality/surgery , Torsion Abnormality/diagnosis , Abdominal Pain/etiology , Retrospective Studies , Age Factors , Pelvic Pain/etiology , Neoplasms, Germ Cell and Embryonal/diagnosis , Salpingo-oophorectomy/methodsABSTRACT
We aimed to evaluate the effects of detorsion and Allium sativum (garlic oil) treatment on the ovarian reserve in an ovarian torsion model. Ovarian torsion may lead to loss of ovarian tissue and infertility. It is an experimental rat study that was carried out on 16 sets of ovaries each, one for treatment group and a control group. In the control group, the procedure involved only the surgically opening and closing the abdomen. Bilateral adnexal torsion/detorsion was performed after a 3-hour ischemia period for the detorsion-only group. The detorsion + Allium sativum group received a 5 ml/kg dose of Allium sativum intraperitoneally, 2 hours before surgery. After the second surgery, removed ovarian samples were evaluated for follicle counts, damage scores and other parameters. Primordial, preantral, small antral and large antral follicle counts were significantly higher in the detorsion + Allium sativum group. Degeneration, congestion, hemorrhage ,inflammation and total damage scores were significantly elevated in the detorsion only group compared to those for the detorsion + Allium sativum group. Finally, there was a significant correlation between AMH alterations and postoperative, preantral follicle count (p<0.05). As a conclusion detorsion + Allium sativum treatment may be effective in protecting the ovarian reserve after torsion.
Intentamos evaluar los efectos de la detorsión y el tratamiento con Allium sativum (aceite de ajo) en la reserva ovárica en un modelo de torsión ovárica. La torsión ovárica puede ocasionar pérdida de tejido ovárico e infertilidad. Este es un estudio experimental en ratas que se llevó a cabo en 16 sets de ovarios para cada grupo: tratamiento y control. En el grupo control, el procedimiento involucró solamente la apertura y el cierre quirúrgicos del abdomen. La torsión / detorsión anexial bilateral se realizó después de un período de isquemia de 3 horas para el grupo de solo detorsión. El grupo de detorsión + Allium sativum recibió una dosis de 5 ml / kg de Allium sativum por vía intraperitoneal, 2 horas antes de la cirugía. Después de la segunda cirugía, las muestras ováricas eliminadas se evaluaron para recuentos de folículos, puntajes de daño y otros parámetros. Los recuentos de folículos antrales primordiales, preantrales, antrales pequeños y grandes fueron significativamente mayores en el grupo con detorsión + Allium sativum. Los puntajes de degeneración, congestión, hemorragia, inflamación y daño total fueron significativamente elevados en el grupo de solo detorsión, en comparación con los del grupo de detorsión + Allium sativum. Finalmente, hubo una correlación significativa entre las alteraciones de AMH y el recuento de folículos preantrales postoperatorios (p <0,05). Como conclusión, el tratamiento con detorsión + Allium sativum puede ser eficaz para proteger la reserva ovárica después de la torsión.
Subject(s)
Animals , Female , Rats , Ovarian Diseases/drug therapy , Ovary/drug effects , Sulfides/administration & dosage , Allyl Compounds/administration & dosage , Garlic/chemistry , Torsion Abnormality , Oxidative Stress/drug effects , Protective Agents , Disease Models, Animal , Ovarian Reserve/drug effectsABSTRACT
Se presentan 3 casos de trombosis de la vena ovárica, uno en relación a cirugía pélvica y dos durante el postparto. La trombosis de la vena ovárica es una complicación rara, de presentación clínica inespecífica, lo que hace plantearse un diagnóstico diferencial con otras patologías más frecuentes (apendicitis, pielonefritis, etc), siendo la TAC el gold standard para su diagnóstico. El tratamiento más adecuado son los anticoagulantes.
We report 3 cases of varian vein thrombosis, one in relation with pelvic surgery and 2 during the postpartum period. The ovarian vein thrombosis is a rare complication, with inespecific symptoms, that is why it is obligatory to propose a differential diagnosis with more frecuent patologies (appendicitis, pyelonephritis, etc.), the CAT is the gold standard in its diagnosis. Anticoagulants are the most suitable treatment.
Subject(s)
Humans , Male , Adult , Middle Aged , Ovarian Diseases/complications , Ovary/blood supply , Venous Thrombosis/etiology , Venous Thrombosis/drug therapy , Gynecologic Surgical Procedures/adverse effects , Venous Thrombosis/diagnosis , Postpartum Period , Anticoagulants/therapeutic useABSTRACT
Abstract The occurrence of Manson's schistosomiasis in organs of the female reproductive tract is an uncommon event, given that the etiological agent for this disease is a blood parasite that inhabits the mesenteric veins. In this case report, a 45-year-old female patient reported that her first symptoms had been strong pain in the left iliac region around two years earlier. An endovaginal pelvic ultrasonography showed that the left ovary was enlarged, and the report suggested that this finding might be correlated with clinical data and tumor markers. After being examined at several healthcare services, the patient was referred to an oncology service due to suspected neoplasia, where she underwent a left ovariectomy. The result from the histopathological examination showed the presence of granulomatous inflammatory processes surrounding both viable and calcified eggs of Schistosoma mansoni. There was no evidence of any neoplastic tissue. The patient was medicated and followed-up as an outpatient.
Resumo A ocorrência da esquistossomose mansônica em órgãos do aparelho reprodutor feminino é um evento pouco comum, tendo em vista que o agente etiológico desta doença é um parasito sanguíneo que habita as veias mesentéricas. Neste relato decaso, uma paciente de 45 anos referiu como primeira sintomatologia fortes dores na região ilíaca esquerda há cerca de 2 anos. Uma ultrassonografia pélvica endovaginal identificou aumento do ovário esquerdo, e o laudo sugeriu correlacionar tal achado com dados clínicos e marcadores tumorais. Após passar por vários serviços de saúde, a paciente foi encaminhada para um serviço de oncologia por suspeita de neoplasia, sendo submetida a uma ovariectomia à esquerda. O resultado do exame histopatológico evidenciou a presença de processos inflamatórios granulomatosos em torno de ovos viáveis e calcificados de Schistosoma mansoni. Não houve qualquer evidência de tecido neoplásico. A paciente foi medicada, e seguiu em acompanhamento ambulatorial.
Subject(s)
Humans , Ovarian Diseases/parasitology , Schistosomiasis mansoni/diagnosis , Schistosomiasis mansoni/epidemiology , Ovarian Diseases/diagnosis , Ovarian Diseases/epidemiology , Prevalence , Middle AgedABSTRACT
This report describes a case of spontaneous abortion in a 4-year-old Golden Retriever dog with ovarian endometriosis. Clinical findings indicated that there was not any senstivity in the abdomen and the viability parameters were within the reference values. On vaginal examination, serosanguineous discharge was determined. Ultrasonographic examination revealed that no fetus was observed in cornu uteri and an hypoechoic cystic structure, measuring 3.2 x 3.4 cm was found behind the left kidney. Ovarian cyst was suspected, and then ovariohysterectomy was performed. On laparotomy, the presence of a cystic structure was confirmed in the left ovary similar to ultrasonographic findings. Cyst was smooth, flat, hemorrhagic and thick-walled structure. Histopathologic examination of the ovarian stroma revealed covered luteinizing cells and midline hemorrhagic cyst. However, the internal surface of the cyst wall was covered by an endometrial lining. Interestingly, the endometriotic tissue had a maximal penetration into the cyst wall. It was thought that the ovarian endometriosis caused a failure in the luteinizing hormone action which is responsible for luteal function and spontaneous abortion was observed in this case. Although ovarian endometriosis is quite usual in human, this case could be the first report to describe ovarian endometriosis in a dog, and thus it has been reported to cause spontaneous abortion
Subject(s)
Animals , Endometriosis , Ovarian Diseases , DogsABSTRACT
The endoplasmic reticulum (ER) is the principal organelle responsible for several specific cellular functions including synthesis and folding of secretory or membrane proteins, lipid metabolism, and Ca storage. Different physiological as well as pathological stress conditions can, however, perturb ER homeostasis, giving rise to an accumulation of unfolded or misfolded proteins in the ER lumen, a condition termed ER stress. To deal with an increased folding demand, cells activate the unfolded protein response (UPR), which is initially protective but can become detrimental if ER stress is severe and prolonged. Accumulating evidence demonstrates a link between the UPR and ovarian development and function, including follicular growth and maturation, follicular atresia, and corpus luteum biogenesis. Additionally, ER stress and the UPR may also play an important role in the ovary under pathological conditions. Understanding the molecular mechanisms related to the dual role of unfolded protein response in the ovarian physiology and pathology may reveal the pathogenesis of some reproductive endocrine diseases and provide a new guidance to improve the assisted reproductive technology. Here we review the current literature and discuss concepts and progress in understanding the UPR, and we also analyze the role of ER stress and the UPR in the ovary.
Subject(s)
Animals , Female , Humans , Apoptosis , Calcium , Metabolism , Endoplasmic Reticulum , Metabolism , Pathology , Lipid Metabolism , Ovarian Diseases , Metabolism , Pathology , Therapeutics , Ovary , Metabolism , Pathology , Unfolded Protein ResponseABSTRACT
<p><b>OBJECTIVE</b>To explore the genetic etiology for two Chinese families affected with hypergonadotropic amenorrhea and normal number of antral follicles.</p><p><b>METHODS</b>Peripheral venous blood samples were collected from the families for the extraction of genomic DNA. Mutations of FSHR and LHCGR genes were screened using PCR and Sanger sequencing. Suspected pathogenic mutations were verified in other members of the families. Bioinformatics software and NCBI were used to analyze the pathogenicity of the mutations.</p><p><b>RESULTS</b>Two previously unreported homozygous mutations, c.419delA and c.1510C>T of the FSHR gene were found in the probands of family I and II, respectively. Pedigree and bioinformatics analysis suggested that both mutations were pathogenic. Literature review suggested that both families were affected with resistant ovary syndrome rather than premature ovarian failure.</p><p><b>CONCLUSION</b>Two novel mutations of the FSHR gene have been identified, which have enriched the spectrum of FSHR gene mutations and provided a basis for genetic counseling and direction for reproduction.</p>
Subject(s)
Adolescent , Adult , Female , Humans , Male , Young Adult , Asian People , Genetics , Base Sequence , China , Molecular Sequence Data , Mutation , Ovarian Diseases , Diagnosis , Genetics , Pedigree , Receptors, FSH , GeneticsABSTRACT
OBJECTIVE: To evaluate thyroid function and hormonal profile in women with polycystic ovary syndrome (PCOS). METHODS: A case-control study was conducted at Saad Abualila Center, Khartoum, Sudan. The cases were women with confirmed PCOS based on Rotterdam criteria. The controls were infertile women with no evidence of PCOS. The socio-demographic characteristics and medical history were gathered using a questionnaire. Thyroid hormones (thyroid-stimulating hormone, free tri-iodothyronine, and free thyroxine), anti-thyroid peroxidase, and anti-thyroglobulin antibodies were measured. RESULTS: While there were no significant differences in the age and haemoglobin levels of the two studied groups (55 women in each arm), body mass index was significantly higher in women with PCOS. There were no significant differences in the levels of thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone, luteinizing hormone/follicle stimulating hormone, anti-thyroid peroxidase, anti-thyroglobulin antibodies, cholesterol, triglycerides and low-density lipoprotein cholesterol between the cases and the controls. The mean±standard deviation of free tri-iodothyronine (3.50±0.2 vs. 3.38±0.3 pg/mL, P=0.040) and median (interquartile) high-density lipoprotein cholesterol (37.0 [34.0 to 42.0] vs. 35.80 [29.0 to 41.0] mg/dL, P=0.015) were significantly higher in PCOS patients compared with the control group. In linear regression, PCOS (0.151 pg/mL, P=0.023) and anti-thyroid peroxidase levels (-0.078 pg/mL, P=0.031) were significantly associated with free tri-iodothyronine. CONCLUSION: Free tri-iodothyronine was a significantly higher among PCOS patients compared with the control group.
Subject(s)
Female , Humans , Antibodies , Body Mass Index , Case-Control Studies , Cholesterol , Follicle Stimulating Hormone , Infertility , Linear Models , Lipoproteins , Lutein , Luteinizing Hormone , Ovarian Diseases , Peroxidase , Polycystic Ovary Syndrome , Sudan , Thyroid Gland , Thyroid Hormones , Thyrotropin , TriglyceridesABSTRACT
OBJECTIVE: Growing evidence suggests that increased cardiovascular disease (CVD) risk is associated with female infertility caused by conditions such as polycystic ovarian disease, obesity, thyroid dysfunction, and endometriosis. The aim of this study was to evaluate whether any relationship exists between CVD and unexplained infertility. METHODS: Sixty-five women with unexplained infertility and 65 fertile controls were enrolled in the study. CVD risk markers such as low-density lipoprotein (LDL), high-density lipoprotein (HDL), total cholesterol (TC), triglycerides (TG), insulin resistance (defined by the homeostasis model assessment ratio), and high-sensitivity C-reactive protein (hs-CRP) were assessed. RESULTS: TG, TC, LDL, and hs-CRP levels were higher and HDL levels were lower in patients with unexplained infertility than in fertile controls (p<0.05 for all). Positive associations were found between unexplained infertility and TG, TC, LDL, and hs-CRP levels, and a negative correlation was found for HDL (p<0.05 for all). Multivariate logistic regression analysis showed that TG, HDL, and hs-CRP were independent variables associated with unexplained infertility. CONCLUSION: Our study showed that women with unexplained infertility had an atherogenic lipid profile and elevated hs-CRP levels, suggesting a higher risk of developing CVD in the future. Further studies with larger groups are needed to investigate the nature of this link.
Subject(s)
Female , Humans , C-Reactive Protein , Cardiovascular Diseases , Cholesterol , Dyslipidemias , Endometriosis , Homeostasis , Infertility , Infertility, Female , Insulin Resistance , Lipoproteins , Logistic Models , Obesity , Ovarian Diseases , Risk Factors , Thyroid Gland , TriglyceridesABSTRACT
OBJECTIVE: To investigate the 5-year relative survival rates in gynecological cancers diagnosed and treated in Turkey by year 2009 and to compare the results with developed countries. METHODS: Data of patients diagnosed for ovarian, corpus uteri or cervix uteri cancer at year 2009 are collected from 9 national cancer registry centers. Date of deaths are retracted from governmental Identity Information Sharing System (KPS). In order to calculate relative survival rates, national general population mortality tables are obtained from Turkish Statistical Institute (TurkStat). Hakulinen method is used for computing curves by R program. Data for European, Asian and some developed countries were obtained from official web pages. RESULTS: A total of 1,553 patients are evaluated. Among these, 713 (45.9%) are corpus uteri cancers, while remaining 489 (31.5%) are ovarian and 351 (22.6%) are cervix uteri. Five-year overall relative survival rates are 85%, 50%, and 62% for corpus uteri, ovarian, and cervix uteri, respectively. These figures are between 73%–87% for corpus uteri, 31%–62% for ovarian and 61%–80% for cervix uteri in developed countries. Stage is the most important factor for survival in all cancers. Five-year relative survival rates in corpus uteri cancers are 92%, 66%, and 38% for localized, regional, and distant metastatic disease, respectively. These figures are 77%, 57%, and 29% for ovarian; 80%, 50%, and 22% for cervix uteri. CONCLUSION: This is the first report from Turkey giving national overall relative survival for gynecological cancers from a population based cancer registry system.
Subject(s)
Female , Humans , Asian People , Cervix Uteri , Developed Countries , Genital Neoplasms, Female , Information Dissemination , Methods , Mortality , Ovarian Diseases , Survival Rate , Turkey , UterusABSTRACT
OBJETIVO: Avaliar a resposta ovariana após uso de ciclofosfamida (CFM) em pacientes com lúpus eritematoso sistêmico (LES) e correlacionar os achados de tempo de doença e idade no período de utilização de CFM e dose cumulativa com alterações no ciclo menstrual e/ou evolução para insuficiência ovariana (IO). MÉTODOS: Foi um estudo transversal, retrospectivo, com 50 pacientes com diagnóstico de LES e que fizeram tratamento com CFM com seguimento clínico de, pelo menos, 1 ano. Foram incluídas pacientes com idade entre 12 e 40 anos e que apresentavam ciclos menstruais regulares prévios ao tratamento. Foram excluídas pacientes que descontinuaram o seguimento, ou este foi menor do que um ano, além daquelas que apresentaram irregularidade/ausência menstrual antes do uso do fármaco. Todas as mulheres estudadas foram submetidas à entrevista e à aplicação de questionário. Neste foram abordadas questões relevantes de padrão de ciclo menstrual antes e posterior à terapia, assim como períodos gestacionais e método contraceptivo. Foi questionado se as pacientes foram orientadas sobre os efeitos colaterais e as consequências da CFM. Para análise estatística, foram utilizados os testes t de Student, Mann-Whitney, do χ2 e o não paramétrico de Kolmogorov-Smirnov. RESULTADOS: A média de idade das pacientes incluídas no do estudo foi de 30,8 anos, e a média de idade no momento do uso de CFM, de 25,3 anos. Após a CFM, 24% das pacientes não menstruaram mais, 28% voltaram a ter ciclos regulares e 48% delas permaneceram com ciclos irregulares. Verificou-se que as pacientes que evoluíram com falência ovariana tinham maior tempo de doença (12,3 anos) do que aquelas que não evoluíram (8,9 anos). Treze pacientes tiveram gestação após a CFM, em todas ocorreu de forma espontânea; no entanto, 66% evoluíram com abortamento. A média de idade das pacientes que fizeram uso de CFM e evoluíram com falência ovariana foi de 28,1 anos. A amenorreia ocorreu em 50% das pacientes ...
PURPOSE: To evaluate the ovarian response after cyclophosphamide use (CPM) in patients with systemic lupus erythematosus (SLE) and to correlate the age and cumulative dose findings with changes in menstrual cycle and/or progression to ovarian failure (OF). METHODS: This was a cross-sectional, retrospective study of 50 patients with a diagnosis of SLE who used CFM with a clinical follow-up of at least 1 year. Included were patients aged 12-40 years, who had undergone chemotherapy for SLE control and who had regular menstrual cycles before the beginning of CPM treatment. Patients who discontinued follow-up, who were followed up for less than one year or who had irregular/absent menses before the beginning of CPM treatment were excluded. All women studied were submitted to an interview and a questionnaire containing questions about the pattern of the menstrual cycle before and after therapy, and about the gestational periods and contraception. We asked if the patients had been instructed about the side effects and consequences of CFM. Statistical analysis was performed using the Student t-test and the Mann Whitney, χ2 and nonparametric Kolmogorov-Smirnov tests. RESULTS: The mean age of the patients included in the study was 30.8 years and the mean age at the time of use of CPM was 25.3 years. After CFM, 24% of patients stopped menstruating, 28% returned to regular cycles and 48% continued to have irregular cycles. It was found that the patients who developed OF had longer disease duration (12.3 years) than those who did not develop it (8.9 years). Thirteen patients became spontaneously pregnant after CFM; however, 66% progressed to abortion. The mean age of the patients who used CFM and developed OF was 28.1 years. Amenorrhea occurred in 50% of those aged 31-40 years, in 22.2% of those aged 21-30 years and in 7.7% of those aged 12-20 years. Our study showed no statistical correlation between cumulative dose and OF, although cumulative ...
Subject(s)
Humans , Female , Child , Adolescent , Adult , Young Adult , Cyclophosphamide/adverse effects , Lupus Erythematosus, Systemic/drug therapy , Ovarian Diseases/chemically induced , Cross-Sectional Studies , Cyclophosphamide/therapeutic use , Lupus Erythematosus, Systemic/physiopathology , Ovary/drug effects , Ovary/physiopathology , Retrospective StudiesABSTRACT
PURPOSE: To evaluate the treatment outcome of tubo-ovarian abscesses managed by transvaginal ultrasound-guided aspiration. METHODS: Descriptive analysis of all patients with tubo-ovarian abscesses treated with a minimally invasive procedure, ultrasound-guided drainage, at the Department of Gynecology, Centro Hospitalar Vila Nova de Gaia/Espinho, during a period of 5 years (from June 2009 to June 2014). RESULTS: Twenty-six cases were included in the study. The mean age of the study group was 42.8 years. All patients were submitted to transvaginal ultrasound-guided aspiration and sclerosis with iodated solution, as well as received broad-spectrum intravenous antibiotics. The mean time from admission to drainage was 2.5 days. Cultures for aerobic and anaerobic pathogens were positive in 14 of the 26 cases. A complete response was noted in 23 of the 26 cases. No complications or morbidity were noted as a consequence of the drainage procedures. CONCLUSION: Minimally invasive treatment of tubo-ovarian abscesses by transvaginal ultrasound-guided drainage is an effective and safe approach. .
OBJETIVO: Avaliar os resultados da aspiração transvaginal ecoguiada no tratamento dos abcessos tubo-ováricos. MÉTODOS: Análise descritiva de todas as pacientes com diagnóstico de abcesso tubo-ovárico tratadas com um procedimento minimamente invasivo, drenagem ecoguiada, no Serviço de Ginecologia do Centro Hospitalar Vila Nova de Gaia/Espinho, durante um período de 5 anos (junho de 2009 a junho de 2014). RESULTADOS: Vinte e seis casos foram incluídos neste estudo, com média de idade de 42,8 anos. Todas as pacientes foram submetidas a punção aspirativa transvaginal ecoguiada e esclerose com solução iodada, associada a antibioterapia endovenosa de largo espectro de ação. O tempo médio desde a admissão até o procedimento de drenagem foi de 2,5 dias. Os exames culturais para micro-organismos aeróbicos e anaeróbicos foram positivos em 14/26 casos. Resposta completa com o tratamento instituído ocorreu em 23 dos 26 casos. Não houve registro de complicações ou morbilidade com os procedimentos de drenagem realizados. CONCLUSÃO: O tratamento minimamente invasivo dos abcessos tubo-ováricos, com drenagem transvaginal ecoguiada, constitui uma abordagem terapêutica eficaz e segura. .
Subject(s)
Humans , Female , Adult , Middle Aged , Aged , Young Adult , Abscess/surgery , Drainage/methods , Fallopian Tube Diseases/surgery , Ovarian Diseases/surgery , Ultrasonography, Interventional , Minimally Invasive Surgical ProceduresABSTRACT
La torsión de un tumor ovárico constituye una urgencia ginecológica infrecuente. Es causada por la rotación del órgano afectado sobre su pedículo, lo que restringe su vascularización. Una intervención oportuna evita sus complicaciones. No es frecuente su aparición en tumores de ovario mayores de 15 cm. Se trata de una paciente premenopáusica de 47 años de edad que acude a la sala de emergencia del Centro de Diagnóstico Integral María Eugenia González por presentar dolor en mesogastrio e hipogastrio de elevada intensidad acompañada de vómitos. En el examen físico se constató una marcada distención del abdomen por tumor palpable con límite superior a nivel umbilical. Los estudios de imagen mostraron torsión de tumor quístico de ovario de 32 X 22 cm. Se realizó tratamiento quirúrgico: ooforectomía derecha complementado con apendicectomía profiláctica por invaginación(AU)
Torsion of an ovarian tumor is a rare gynecological emergency. It is caused by rotation of the affected organ on its pedicle, which restricts vascularization. Timely surgery avoids complications. It is rare in over 15mm ovarian tumors. This is a 47 years-old premenopausal patient who went to the emergency service of Maria Eugenia Gonzales comprehensive diagnosis center because she presented with acute pain in the mesogastrium and hypogastrium and vomiting. The physical examination revealed sizeable distention of her abdomen due to palpable tumor with upper limit at umbilical level. Scanning tests showed torsion of 32 x 22cm cystic ovarian tumor. She was operated on by using right oophorectomy supplemented with prophylactic appendicectomy through invagination(AU)
Subject(s)
Humans , Female , Middle Aged , Appendectomy/methods , Ovarian Diseases/surgery , Ovariectomy/methods , Torsion Abnormality/surgeryABSTRACT
OBJETIVO: Analisar os fatores que possam influenciar na recorrência do endometrioma ovariano após tratamento videolaparoscópico. MÉTODOS: Estudo de coorte retrospectivo. Foram avaliadas 129 pacientes submetidas à videolaparoscopia, entre 2003 e 2012, para tratamento de endometrioma ovariano, com seguimento pós-operatório mínimo de 2 anos. Foi realizada ultrassonografia transvaginal para excluir persistência da lesão e identificação de recidiva. Para comparação de variáveis contínuas foi utilizado o teste t de Student, e para o teste de homogeneidade entre as proporções, o teste do χ2 ou exato de Fisher (para frequências menores do que cinco). Para a obtenção de fatores prognósticos ligados à recidiva foi aplicado o modelo de regressão linear multivariado. O nível de significância utilizado para a análise foi de 5%. RESULTADOS: A taxa de recorrência foi de 18.6%. O tamanho do endometrioma, a modalidade cirúrgica empregada e os dados demográficos como idade, índice de massa corpórea, presença de sintomas, tabagismo e prática de exercícios físicos não se associaram ao aumento da recorrência. Foi observado que a interrupção do tratamento clínico pós-operatório apresentou risco significativo para aumento da recorrência (OR 23,7; IC95% 5,26-107,05; p=0,001). CONCLUSÃO: O uso contínuo de contracepção oral parece reduzir dramaticamente a taxa de recidiva de endometrioma ovariano. Neste estudo, a interrupção do tratamento foi o fator associado com maior taxa de recidiva da lesão após o tratamento videolaparoscópico. .
PURPOSE: To analyze the factors that might influence the recurrence of ovarian endometriomas after laparoscopic excision. METHODS: A retrospective cohort study. We evaluated 129 patients who underwent laparoscopic excision of ovarian endometriomas from 2003 to 2012 and who were followed up for at least two years after surgery. Vaginal ultrasound was repeated to exclude persistent lesion and to identify recurrence. The Student's t-test was used to compare continuous variables and the χ2 or Fischer exact test (for values of less than five) was used to test homogeneity between proportions. A logistic regression model for multivariate proportional hazards was used to analyze predictors of long-term outcome. The level of significance was set at 5% in all analyses. RESULTS: The overall rate of ovarian endometrioma recurrence was 18.6%. Endometrioma diameter, surgical procedure techniques and demographic data such as age, presenting symptoms, body mass index, smoking and physical exercise habits were not associated with recurrence, whereas interruption of postoperative medical treatment was significantly correlated with a higher recurrence rate (OR 23.7; 95%CI 5.26-107.05; p=0.001). CONCLUSION: Current oral contraceptive use appears to be associated with a dramatic reduction in the risk of recurrence of ovarian endometriotic cysts. Treatment interruption was associated with a higher recurrence rate of ovarian endometrioma after laparoscopic treatment. .