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Wen-Bin He Juan Du Xiao-Wen Yang Wen Li Wei-Lin Tang Can Dai Yong-Zhe Chen Ya-Xin Zhang Guang-Xiu Lu Ge Lin Fei Gong Yue-Qiu Tan 《Reproductive biomedicine online》2019,38(3):397-406
Research question
What is the genetic aetiology of three resistant ovary syndrome (ROS) pedigrees from 13 Chinese Han families with non-syndromic premature ovarian insufficiency (POI).Design
The proband in each family was subjected to whole-exome sequencing. Bioinformatic and in-vitro functional analyses were performed for the functional characterization of the FSHR mutations.Results
Four novel mutations, two homozygous mutations (c.419delA, c.1510C>T), and a compound heterozygous mutation (c.44G>A and deletion of exons 1 and 2) of FSHR were identified in the three non-syndromic POI-with-ROS families. Bioinformatic analysis predicted that the three novel point mutations in FSHR are deleterious and associated with POI in the three families, which was confirmed by in-vitro functional analysis, in which FSH-induced adenosine 3′,5′-cyclic monophosphate production was abolished for all receptors.Conclusions
The three novel point mutations in FSHR were all functional inactivating mutations, and were the genetic aetiology of the three non-syndromic POI-with-ROS families. The first FSHR frameshift mutation is reported here, and the first missense mutation in the signal peptide-encoding region of FSHR to be associated with POI. Women affected by ROS should consider undergoing mutation screening for FSHR. 相似文献4.
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Obesity and serum luteinizing hormone level have an independent and opposite effect on the serum inhibin B level in patients with polycystic ovary syndrome 总被引:12,自引:0,他引:12
Cortet-Rudelli C Pigny P Decanter C Leroy M Maunoury-Lefebvre C Thomas-Desrousseaux P Dewailly D 《Fertility and sterility》2002,77(2):281-287
OBJECTIVE: To elucidate whether the negative effect of obesity on the serum inhibin B level that we previously reported is specific or not to polycystic ovary syndrome (PCOS) and whether it may explain the wide interindividual variability in serum inhibin B levels found in patients with PCOS. DESIGN: Prospective study.Setting: Reproductive endocrinology unit of an academic medical center. PATIENT(S): One hundred thirty-four consecutive patients with PCOS (mean age, 27.4 +/- 4.7 years; mean body mass index [BMI], 28.3 +/- 7.6 kg/m(2); BMI > 25, 53%) and in 78 control women (mean age, 30.1 +/- 4.1 years; mean BMI, 24.3 +/- 4.9; BMI > 25, 34%). INTERVENTION: Blood sampling was performed in the early follicular phase in patients and in control women. MAIN OUTCOME MEASURE(S): BMI and waist circumference (WC), serum levels of inhibin B, LH, FSH, E(2), androstenedione, T, fasting insulin, and leptin were assessed in all subjects. RESULT(S): No difference was observed in the mean inhibin B level between patients and controls. The BMI and WC correlated negatively with inhibin B in patients with PCOS and in controls, with similar regression slopes, thus indicating that the influence of obesity on inhibin B is not specific to PCOS. In addition, we found a positive relationship between serum LH and inhibin B levels in PCOS. There was no significant interaction between the effects of BMI and LH on the serum inhibin B levels by analysis of variance (ANOVA). The mean serum inhibin B level in patients with PCOS with high serum LH (i.e., >the 90th percentile of LH in controls) was significantly higher than in those patients with normal LH or in controls. The highest mean inhibin B level was noted in nonobese patients with PCOS with high LH levels (121.0 +/- 51.2 pg/mL), while nonobese patients with PCOS with normal LH levels and obese patients with normal LH or high LH levels had similar mean levels (94.5 +/- 40.0, 84.9 +/- 34 and 91.6 +/- 51.7 pg/mL, respectively). CONCLUSION(S): We confirm that obesity has a negative effect on inhibin B serum level, which is not specific to PCOS. Obesity and excess LH, acting oppositely and independently on inhibin B production, may explain the discrepancies between the previous reports studying serum inhibin B level in patients with PCOS. Further work is required to elucidate the mechanisms underlying the antagonistic effects of LH and obesity on inhibin B production in patients with PCOS. 相似文献
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Kazuya Yamashita MD Mareo Yamoto MD Toshihiko Shikone MD Sawako Minami Miyako Imai MD Keiji Nishimori MD Ryosuke Nakano MD 《American journal of obstetrics and gynecology》1997,177(6):1450-1457
OBJECTIVE: Our purpose was to examine the cellular localization of inhibin subunits and messenger ribonucleic acid expressions for the inhibin subunits and the serum levels of inhibin A and inhibin B in human ovarian sex cord stromal tumors. STUDY DESIGN: We examined the immunohistochemical localization of the inhibin subunits and the expression of the corresponding messenger ribonucleic acids by Northern blot analysis in a granulosa cell tumor and a Sertoli-Leydig cell tumor. We also measured serum concentrations of dimeric inhibin A and inhibin B by two-site enzyme-linked immunosorbent assay. RESULTS: Immunostaining specific for the inhibin α, βA, and βB subunits was observed in the granulosa cell tumor. In the Sertoli-Leydig cell tumor we observed immunostaining specific for the α subunit in Leydig tumor cells and that specific for the βA subunit in Sertoli tumor cells and that specific for the βB subunit in both tumor cells. Northern blot analysis revealed the presence of messenger ribonucleic acids for the α, βA, and βB subunits in the granulosa cell tumor and the Sertoli-Leydig cell tumor. The serum levels of dimeric inhibin A and inhibin B in patients were elevated preoperatively and decreased progressively after surgery. CONCLUSION: Our results suggest that inhibin A and inhibin B are produced by the human sex cord stromal tumors and that inhibins might be the useful markers of the tumors.(Am J Obstet Gynecol 1997;177:7) 相似文献
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P Dalemans P Buytaert P Meulyzer 《European journal of obstetrics, gynecology, and reproductive biology》1979,9(5):327-334
A young patient with secondary amenorrhea and primary infertility is described. After a gynecological-endocrinological exploration including laparoscopy, the diagnosis indicates secondary hypergonadotropic, hypo-estrogenic normo-androgenic amenorrhea. The anatomopathological examination of an ovarian biopsy revealed an intact follicular apparatus, thus disproving the suspected diagnosis of climacterium praecox. Since very high gonadotropin doses could not induce an ovulation, it was concluded that the rare combination of secondary amenorrhea and the gonadotropin-resistant ovary syndrome must be present. The pathogenesis of this syndrome is discussed. 相似文献
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Kato M Kikuchi I Shimaniki H Kobori H Aida T Kitade M Kumakiri J Takeuchi H 《The journal of obstetrics and gynaecology research》2007,33(2):174-180
AIM: It is difficult to induce ovulation in patients with polycystic ovary syndrome (PCOS) resistant to clomiphene citrate (CC) because of the narrow safety margin of human menopausal gonadotropin preparations. In the present study, patients diagnosed as having PCOS according to the Japanese diagnostic criteria were divided into two groups (Groups H and N). Testosterone level was used as a cut-off value between Groups H and N to examine the usefulness of laparoscopic ovarian drilling (LOD) to induce ovulation. METHODS: Thirty-two women with PCOS resistant to CC who underwent LOD were evaluated. The patients were divided into a high and a normal androgen group (Groups H and N with 19 and 13 patients, respectively) based on the level of testosterone measured 1 week before surgery using a cut-off value of 50 ng/dL. LOD was performed with microlaparoscopy under intravenous anesthesia. RESULTS: After LOD, spontaneous ovulation occurred in 16 (84.2%) and nine (69.2%) patients in Groups H and N, respectively. Additional treatment with CC was given to 12 (63.2%) and 11 (84.6%) patients, respectively. No significant difference was noted with regard to the spontaneous ovulation rate after LOD. Eighteen pregnancies were established in 17 patients (53.1%). The pregnancy rate after LOD was not significantly different between Groups H and N: 42.1% (8 patients) and 76.9% (10 patients), respectively. CONCLUSION: Patients with PCOS as diagnosed based on the Japanese diagnostic criteria include those with increased and normal androgen levels. LOD is considered an effective ovulation induction method for both types of patients with PCOS. 相似文献
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Justine Hugon-Rodin Négar Kalhorpour Bruno Borghese Corinne Bordonne Pierre-Alexandre Just 《Gynecological endocrinology》2016,32(11):872-874
In this report, we describe the first case ever reported in the literature, of an inhibin-A (INHA) and inhibin-B (INHB) producing fibrothecoma. A post-menopausal woman was referred to our unit because of follicle stimulating hormone (FSH) level below the reference interval for postmenopausal women. By contrast luteinizing hormone, hCG, and estradiol levels were within normal range. This discrepancy suggested the secretion of FSH inhibitory factors. INHB and INHA levels were markedly elevated for age, 475?pg/mL and 100?pg/mL, respectively. Ultrasonography and MRI showed a pelvic mass of indeterminate nature. Abnormal inhibin secretion is generally observed in granulosa cell tumors. In this case this etiology was unlikely because of low estradiol and AMH levels. Surgical exploration revealed a 10?cm mass of the left ovary proven histologically to be an ovarian fibrothecoma (OFT). After tumor removal, INHB and INHA levels decreased rapidly. Only three cases of OFT with an important secretion of INHB have been reported to date. INHA secretion has never been associated with OFT. There is a need to develop coupled hormone and imaging strategies to diagnose the source of INH secretion in case of FSH/LH discrepancy. 相似文献
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Asa Lindholm Liselott Andersson Mats Eliasson Marie Bixo Inger Sundstr?m-Poromaa 《International journal of gynaecology and obstetrics》2008,102(1):39-43
OBJECTIVE: To establish the prevalence of symptoms associated with polycystic ovary syndrome (PCOS) in a population-based sample of women from Northern Sweden, and to relate symptoms of PCOS to features of metabolic syndrome. METHODS: A population-based survey of 147 women under 40 years of age sampled from 267 eligible women from the Northern Sweden component of the World Health Organization's MONICA study. The study involved questionnaires, physical examination, and assays of testosterone and sex hormone-binding globulin. RESULTS: The estimated prevalence of symptoms associated with PCOS was 4.8% in the study population. Features of metabolic syndrome were more common in women with signs of hyperandrogenism than in healthy controls. CONCLUSION: The estimated prevalence of PCOS in Northern Sweden corresponds with other prevalence studies. A simple questionnaire and analysis of the free androgen index are sufficient to detect the subgroup with the highest risk for metabolic syndrome. 相似文献
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Jadoul P Donnez J Dolmans MM Squifflet J Lengele B Martinez-Madrid B 《Fertility and sterility》2007,87(4):971-975
Alterations in resting energy expenditure and metabolic hormones (energy conservation) are evident in increasing magnitude across a continuum of increasing severity of clinical menstrual disturbances, including luteal-phase defects, anovulation, and amenorrhea in exercising women. These data provide further evidence of the tight association between energy balance and reproduction and suggest that subtle declines in energy availability can produce clinically recognized menstrual disturbances. 相似文献
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To evaluate whether 4 gram myoinositol and 400?mcg folic acid(MYO) therapy has any effects on ovarian stromal blood flow by using pulsed and color Doppler at 3?months follow-up period in polycystic ovary syndrome (PCOS). One-hundred eighty patients were designed into six groups; Group 1: PCOS patients that received OCP containing 30?mcg ethinyl estradiol (EE) plus 3?mg drospirenone (DRP); Group 2: PCOS patients that received MYO; Group 3: PCOS patients that received no medication. Group 4: Healthy patients that received OCP; Group 5: Healthy patients that received MYO; Group 6: Healthy patients that received no medication. Resistance index (RI) and pulsatility index (PI) of both ovaries were assessed. There was a significant increase in RI and PI of both ovarian stromal blood flow women with PCOS who received OCP (Group 1, p?<?.001) and MYO (Group 2, p?<?.001). The rate of increment in both RI and PI values were similar for OCP users (Group 1) and MYO users(Group2) in PCOS patients. MYO therapy reduced ovarian vascularization in both PCOS and healthy users after 3?months and this decrease is especially noticeable in women with PCOS compared to healthy women. OCP therapy also reduced ovarian vascularization just like MYO therapy. 相似文献
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Aging women with polycystic ovary syndrome who achieve regular menstrual cycles have a smaller follicle cohort than those who continue to have irregular cycles 总被引:10,自引:0,他引:10
Elting MW Kwee J Korsen TJ Rekers-Mombarg LT Schoemaker J 《Fertility and sterility》2003,79(5):1154-1160
OBJECTIVE: To examine whether follicle loss due to ovarian aging is responsible for the occurrence of regular menstrual cycles in aging women with polycystic ovary syndrome (PCOS), the size of the FSH-sensitive follicle cohort was estimated by the exogenous follicle-stimulating hormone ovarian reserve test (EFORT) and related to the follicle count as measured by ultrasound. DESIGN: Prospective study. SETTING: Reproductive endocrinology unit of an academic medical center. PATIENT(S): Twenty-seven aging women with PCOS (35.8-49.4 years): 20 with regular menstrual cycles and 7 with oligomenorrhea or amenorrhea. INTERVENTION(S): EFORT and transvaginal ultrasound. MAIN OUTCOME MEASURE(S): Baseline (cycle day 2, 3, or 4) FSH, androstenedione (A), T, E(2), and inhibin B levels, the E(2) and inhibin B increment after the EFORT, and the follicle count. RESULT(S): After correction for the body mass index (BMI), the inhibin B increment was higher in the irregular menstrual group, but the E(2) increment did not differ significantly between the two groups. Ultrasound showed a median follicle count of 8.5 (4.0-18.0) in women with regular menstrual cycles (n = 16), compared with 18.0 (8.0-35.0) in irregularly menstruating women (n = 7). The follicle count was significantly correlated to the FSH-induced E(2) increment (r = 0.656) as well as to the inhibin B increment (r = 0.654). The regularly menstruating group was significantly older, had a higher basal FSH concentration, and had lower androgens than the irregularly menstruating group. CONCLUSION(S): The smaller follicle count, the older age, the higher FSH concentration, and the lower FSH-induced inhibin B increment found in women with PCOS and a regular menstrual cycle confirm that a decrease in the size of the follicle cohort due to ovarian aging is largely responsible for the regular menstrual cycles in aging PCOS women. 相似文献
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B超测量卵巢体积和卵泡数目在青春期多囊卵巢综合征诊断中的价值 总被引:1,自引:0,他引:1
目的探讨B超测量卵巢体积和卵泡数目用于诊断青春期多囊卵巢综合征(PCOS)的价值。方法对66例青春期PCOS患者(病例组)和27例对照组少女,进行经直肠双侧卵巢B超检查,并计算卵巢体积和卵泡数目,比较两组测量值的均数,采用受试者工作曲线(ROC)分析比较卵巢各指标的诊断价值并确定诊断界值。结果病例组与对照组的平均卵巢体积(MOV)、较大卵巢体积(MaxOV)和平均卵泡数目(MFN)分别为(9.2±3.2)cm^3、(11.4±4.7)cm^3、(12.0±3.9)个和(4.9±1.7)cm^3、(6.1±2.5)cm^3、(6.6±2.4)个,分别比较,差异有统计学意义(P〈0.01)。MOV、MaxOV和MFN诊断青春期PCOS的ROC曲线下面积(AUC)分别是0.914、0.884和0.838,3者比较,差异均无统计学意义(P〉0.05)。MOV≥6.4cm^3(敏感度84.8%,特异度87.5%)、MaxOV≥8.6cm^3(敏感度75.8%,特异度95.2%)或MFN≥8个(敏感度86.7%,特异度78.3%)分别是B超诊断青春期PCOS的较好界值。结论B超检测卵巢体积和卵泡数目对于青春期PCOS具有较好的诊断价值。以MaxOV≥8.6cm^3、MOV≥6.4cm^3或MFN≥8个作为界定青春期PCOS的B超标准,可获得较好的敏感度和特异度的平衡。 相似文献
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《Gynecological endocrinology》2013,29(2):114-117
Aims.?To find out if there is any link between the therapeutic effect of toremifene on premenstrual mastalgia and luteal phase serum inhibin A and/or B levels.Methods.?Forty-eight patients participating in a randomized cross-over trial on toremifene vs. placebo for premenstrual mastalgia gave three blood samples during the luteal phase of the menstrual cycle: the first at baseline, the second during the third toremifene/placebo cycle, and the third during the third placebo/toremifene cycle, respectively. The blood samples were analyzed for inhibin A and B with respective specific two-site enzyme-linked immunosorbent assays. Toremifene (20?mg/d) and placebo were administered during the luteal phase only.Results.?When all the toremifene-treated cycles were compared with all the placebo cycles and with the baseline, the median inhibin A levels were 42, 38, and 40?pg/ml, respectively (baseline versus toremifene, p?=?0.638; baseline versus placebo, p?=?0.468; and toremifene versus placebo, p?=?0.365). The median inhibin B levels were at baseline 19?ng/l, during placebo 20?ng/l, and during toremifene 17?ng/l (baseline versus toremifene, p?=?0.983; baseline versus placebo, p?=?0.519; and toremifene versus placebo, p?=?0.880).Conclusion.?A luteal administration of toremifene does not seem to result in any changes in mid-luteal concentrations of inhibin A or B in serum. 相似文献
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El-Shalakany A Abou-Talib Y Shalaby HS Sallam M 《The journal of obstetrics and gynaecology research》2004,30(2):155-161
AIM: To assess the value of preoperative determination of serum inhibin levels in the prediction of malignancy in women with ovarian tumors. The prediction of malignancy not only helps patient counseling regarding prognosis and extent of surgery but also allows for proper specialist referral. METHODS: Fifty women with clinically diagnosed ovarian tumors before surgery (patients group) and 32 healthy non-pregnant women in the early follicular phase of their cycle (controls) were studied. Serum inhibin (total) levels and CA125 were determined using immunoenzymometric assay and enzyme immunoassay, respectively. RESULTS: In the patients group, 31 women had malignant ovarian tumors and 19 had benign tumors. Mean (SEM) serum inhibin levels were 0.94 (0.13) U/mL in the control group, 0.91 (0.7) U/mL in women with benign tumors and 1.9 (0.12) U/mL in women with malignant tumors; the differences are statistically significant (P < 0.01). Inhibin levels were significantly higher in women with late-stage malignant ovarian tumors (III and IV) than in early stages (I and II) and showed no significant difference in relation to menopausal status or the presence of ascites. Taking the 95th centile inhibin level in the control group (1.155 U/mL) as a discriminator level, all women with benign tumors were negative while 67.7% of women with malignant tumors were positive. The inhibin level testing predicted malignancy with a sensitivity of 67.7%, 100% specificity, 100% positive predictive value and 65.52% negative predictive value. Combining CA125 levels (>35 U/mL) with serum inhibin levels (> 1.155 U/mL) improves sensitivity of predicting malignancy to 83.87% and negative predictive value to 75% while maintaining a specificity of 100% and a positive predictive value of 100%. Combining serum inhibin with sonography achieves 96.77% sensitivity and 73.68% specificity for detecting malignancy. CONCLUSION: Preoperative serum inhibin levels in women with ovarian tumors are useful in the prediction of malignancy especially when combined with sonography. 相似文献
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腹腔镜电凝打孔治疗多囊卵巢综合征的远期疗效分析 总被引:8,自引:0,他引:8
目的 :观察腹腔镜电凝打孔治疗多囊卵巢综合征 (PCOS)的远期疗效。方法 :于 1997年 7月~ 2 0 0 3年 9月对克罗米酚促排卵治疗无效的PCOS患者 5 0例 ,行腹腔镜电凝打孔术 ,观察手术前后FSH、LH、T、E2 、PRL、LH/FSH的变化。并对比手术前后卵巢体积及形态的变化。术后根据基础体温测定 (BBT)及B超监测排卵并随访受孕情况。结果 :随访时间 3~ 73月 ,其中 6 0月以上 15例。术后LH、T、LH/FSH较术前明显降低 (P <0 .0 1) ,卵巢体积由术前平均 11cm3变为术后平均 8.4cm3,月经情况明显改善 ,该方法治疗PCOS自然恢复排卵率 94 % ,术后 5年累积受孕率 76 % ,无并发症发生。结论 :腹腔镜治疗PCOS简单易行、创伤小、恢复快 ,远期疗效好 ,为难治的PCOS患者提供了新的治疗途径 相似文献