卵巢早衰与卵巢不敏感综合征

1　POF与ROS的定义卵巢早衰 (prematureovarianfailure,POF)占妇女总人群的1%～ 3 8%,是妇科内分泌领域的常见病。 196 7年Moraes -Ruehsen与Jones首次提出POF的定义 ,目前将 40岁之前闭经 ,伴有FSH升高和E2 下降定义为POF ,但是否包括原发闭经及染色体、基因异常等性腺发育不良仍有争议。由于对POF的病因、病程的逐步了解 ,有学者提出POF不是不可逆的 ,残存的卵巢功能可能再活动 ,POF是暂时的或一过性的。196 9年Jones首先报道 3例高促性腺激素、原发闭经、卵巢内有卵泡存在的患者 ,命名为卵巢不敏感综合征 (resistant/in sen…     

月经紊乱患者的细胞遗传学分析

目的 分析原发闭经、继发闭经及月经稀发患者的染色体核型,探讨性染色体异常对性腺发育的影响。方法 将176例患者分为两组,其中82例原发闭经组,94例继发闭经及月经稀发组。每例行外周血培养,制片及G显带,并行染色体核型分析。结果 176例患者发现性染色体异常38例,异常检出率为29.6％(38/176),其中原发闭经组33例,异常检出率为40.2％(33/82);继发闭经及月经稀发组检出性染色体异常5例,异常检出率为5.3％(5/94);两组异常检出率差异有显著性(P<0.05)。性染色体异常大体上分为三大类:含Y染色体(15例),X染色体数目异常(18例),X染色体结构异常(5例),嵌合体均以45,X系为主,共10例。结论 两条完整的染色体是女性性腺发育及正常卵巢功能所必须,性染色体异常是原发闭经的主要原因之一,常规细胞遗传学检查是必要的;继发闭经及月经稀发也不应忽视此项检查。     

2003例不孕症患者宫腔镜检查结果分析

目的:探讨宫腔镜检查在不孕症诊治中的应用价值。方法:回顾性分析实施宫腔镜检查的不孕症患者的病例资料。结果:12 003例患者中,原发不孕762例(38.0%),继发不孕1 241例(62.0%)。2宫腔镜检查显示有宫腔内病变者757例(37.8%),其中原发不孕274例,继发不孕483例,原发不孕和继发不孕组宫腔病变的发生率无统计学差异(P0.05)。3宫腔内病变分别为:子宫内膜息肉(EP)、子宫内膜增殖症、宫腔粘连(IUA)、子宫内膜结核、子宫畸形、子宫内膜炎、黏膜下肌瘤、子宫内膜癌和宫腔异物9类,原发不孕症中EP、内膜结核、子宫内膜增殖症的发病率均高于继发不孕症组(P0.05)。继发不孕症中宫腔粘连的发生率明显高于原发不孕症组(P0.01)。42 003例患者中有体外受精-胚胎移植(IVF-ET)失败病史的182例,其中宫腔内有病变93例(51.1%),显著高于无IVF-ET失败病史者的宫腔内病变率(37.8%)(P0.01)。结论:不孕症患者的宫腔内病变发生率接近40%,EP是原发不孕症患者最常见的宫腔内病变类型;IUA是继发不孕症患者最常见的宫腔内病变类型。对不孕症患者尤其是有过IVF-ET失败病史的患者,进行宫腔镜检查是非常必要的。     

卵巢功能早衰40例治疗分析

目的:探讨卵巢功能早衰的治疗效果.方法:分析40例卵巢功能早衰患者,其中闭经5年以下者接受的序贯雌、孕激素人工周期治疗;闭经5年以上者接受间断雌、孕激素人工周期治疗,并对月经恢复者行诱导排卵.结果:闭经5年以下的30例患者中,有10例恢复月经(占33.33%),8例排卵,其中3例妊娠;闭经5年以上的10例,治疗后症状明显改善.结论:早期诊断,及时治疗,可使部分卵巢功能早衰患者恢复月经和排卵,甚至妊娠.     

1525例不孕症患者病因分析

目的探讨不孕症的主要病因分布及影响因素.方法对1525例不孕症患者临床资料进行分析.结果女性因素不孕占59.67%,男方因素24.59%,男女双方因素12.13%.女性不孕的病因中输卵管因素占53.85%,其中继发不孕输卵管因素占72.02%,明显高于原发不孕组(33.02%),两者比较差异有显著性(P＜0.05);PCOS的发病率为25.27%,其中原发不孕(38.82%)明显高于继发不孕(13.37%),两者比较差异有显著性.结论不孕症中以女性因素为主,而女性不孕的首要原因是不同程度的输卵管阻塞,其可由生殖道炎症引起,但流产、分娩及盆腔手术创伤也是导致输卵管阻塞的重要原因;PCOS居女性不孕病因的第二位,不容忽视.     

455例闭经患者细胞遗传学分析

目的探讨外周血细胞染色体检查在闭经患者诊断中的临床意义。方法回顾性分析1990年1月至2013年1月山西医科大学第一临床医院进行外周血淋巴细胞染色体检查的455例闭经患者的临床资料,并分为原发性闭经组与继发性闭经组,比较两组患者染色体检查结果及临床特点。结果在455例患者中,染色体异常104例(22.86%),其中原发性闭经患者染色体异常率为24.59%(89/362);继发性闭经患者为16.13%(15/93)。原发性闭经组中先天性无子宫和(或)无阴道患者156例,其中染色体正常124例,异常32例。原发性闭经合并内分泌异常者占20.17%(73/362),继发性闭经合并内分泌异常占68.82%(64/93)。104例染色体异常患者中,含Y染色体者占30.77%(32/104),X染色体数目异常占46.15%(48/104),X染色体结构异常占19.23%(20/104),常染色体异常占3.85%(4/104)。结论染色体异常是导致闭经的主要原因,不仅重视原发闭经患者的染色体检查,继发闭经患者也不容忽视。     

腹腔镜诊治不孕症患者盆腔病变156例疗效分析

目的探讨应用腹腔镜手术诊治不孕症的临床价值.方法 1997年4月至2004年3月中山市人民医院对156例女性不孕症患者行腹腔镜诊断和治疗,观察术后妊娠率.结果 156例中发现盆腔病变145例,占92.9%.慢性盆腔炎是不孕症的第1位病因,继发不孕较原发不孕发生率高(P＜0.01);其次为子宫内膜异位症、多囊卵巢综合征,原发不孕发生率高于继发不孕(P＜0.01).腹腔镜手术术后妊娠率为47.1%,2例发生异位妊娠.结论腹腔镜手术对女性不孕症盆腔病变的诊治具有重要的价值.     

环境化学物质VCD致卵巢功能早衰动物模型的构建

卵巢功能早衰(premature ovarian failure,POF) 是以闭经、性激素缺乏和高促性腺激素为特征的一组综合征,其发病率约1%～3.8%,近年它在女性因素不孕患者中所占比例有逐年上升的趋势.卵巢是女性重要的生殖和内分泌器官,环境中的化学物质能通过破坏卵泡中的卵母细胞影响卵巢功能~([1-3]),因此,环境化学物质对生殖健康的影响越来越受到关注.     

880例不孕妇女宫-腹腔镜联合手术的病因分析

目的:探讨应用宫-腹腔镜联合手术的诊断技术对女性因素不孕病因的诊断价值。方法:对880例不孕症患者经宫-腹腔镜联合手术,诊断其盆腔疾病、宫腔疾病和不孕的可能原因。结果:在880例不孕症患者中,676例患有盆腔粘连,占76.8%;双侧输卵管阻塞者503例,占57.1%;子宫因素者112例,占12.7%;宫腔病变者107例,占12.2%;卵巢因素者103例,占11.7%;生殖器畸形者69例,占7.9%。其中原发不孕者中痛经、多囊卵巢的患者多于继发不孕,而继发不孕者中有盆腔炎症和盆腹腔手术史的比例较多。结论:女性不孕的首要暴露因素(危险因素)是盆腔及生殖道感染性疾病,输卵管阻塞是导致不孕的重要因素之一。应用宫-腹腔镜联合手术对女性不孕症的病因诊断有重要价值并能对盆腔粘连、输卵管疾病在诊断的同时进行治疗。     

子宫发育异常在不孕不育患者中发生率的单中心研究

目的:探讨子宫发育异常在不孕不育患者中发生率的差异。方法:选取2006年1月—2015年1月在首都医科大学附属北京妇产医院妇科微创中心门诊因"不孕症"及"自然流产史"行宫腔镜联合超声检查的2 359例患者为研究对象,观察比较在原发不孕症(920例)、继发不孕症(722例)及自然流产患者(717例)中子宫发育异常的发生率。结果:494例诊断为子宫发育异常,其中中隔子宫408例(82.59%),单角子宫34例(6.88%),双子宫5例(1.01%),双角子宫9例(1.82%),弓形子宫30例(6.07%),T形子宫8例(1.62%)。自然流产组子宫发育异常发生率[40.31%(289/717)]高于其他2组,差异有统计学意义(均P0.05);原发不孕症组发生率[14.46%(133/920)]高于继发不孕症组[9.97%(72/722)],差异有统计学意义(P0.05)。自然流产组中隔子宫发生率[36.26%(260/717)]高于其他2组,差异有统计学意义(均P0.05);而原发不孕症及继发不孕症2组间差异无统计学意义。自然流产组双角子宫发生率(0.98%)高于继发不孕症组,差异有统计学意义(P0.05),T型子宫在原发不孕症组发生率最高(0.87%)。单角子宫、弓形子宫及双子宫发生率在3组间差异无统计学意义。结论:与不孕症患者相比,子宫发育异常在自然流产患者中发生率高,特别是中隔子宫和双角子宫患者。     

Non-chromosomal, non-iatrogenic premature ovarian failure in an adolescent population: a case series

STUDY OBJECTIVE: To review a cohort of patients with non-chromosomal, non-iatrogenic premature ovarian failure (POF) presenting to the Gynaecology Clinic of the Royal Children's Hospital, Melbourne. DESIGN: Case series SETTING: The Department of Gynaecology, Royal Children's Hospital, Melbourne, Victoria, Australia. PARTICIPANTS: Adolescent patients with non-chromosomal, non-iatrogenic premature ovarian failure RESULTS: Seventeen patients with non-chromosomal, non-iatrogenic POF were identified between 1990 and 2006. The average age at the time of diagnosis was 16.1 years. 58.8% (10/17) presented with primary amenorrhea, 23.5% (4/17) with secondary amenorrhea and 17.6% (3/17) with oligomenorrhea. 41.1% (7/17) were positive for anti-nucleic acid antibodies and one patient had antithyroid antibodies. Two sets of sisters were identified. CONCLUSION: Non-chromosomal, non-iatrogenic POF in an adolescent population is poorly characterized and its incidence unknown. It most commonly presents as primary amenorrhea, but may also present as a disturbance in a previously established menstrual cycle. Like adult onset POF, there appears to be an association with autoimmune conditions although, in our population, overt autoimmune conditions were rare. The occurrence of POF in two sets of sisters raises the possibility of a genetic basis of the condition being more significant in the younger age group, and provides an interesting cohort for further studies in the area.     

Ovarian biopsy in the evaluation of amenorrhea.

Endoscopic ovarian biopsies were performed on 78 amenorrheic patients in an attempt to determine the etiology of their amenorrhea and predict its prognosis, correlating the histologic examination with physical findings, endocrine patterns and cytogenetic studies. Ovarian follicles were present while gonadotropins were high in 14 cases (6 primary, 8 secondary) and there were no follicles in 4 cases (3 primary, 1 secondary) whose gonadotropins were low. Secondary sex characteristics were well developed without prior estrogen stimulation in 5 cases of primary amenorrhea who had no follicles and whose gonadotropins were either low, 3, or high, 2. The mere presence of ovarian follicles was not enough to make them responsive to gonadotropin stimulation whether endogenous or exogenous; a phenomenon that had to do with the quality and quantity of germinal follicles available. The histologic examination of ovarian tissue for the evaluation of amenorrhea has been made feasible and relatively safe through recent advances in endoscopic techniques.     

X-chromosome abnormalities in women with premature ovarian failure.

OBJECTIVE: To evaluate the significance of X-chromosome abnormalities identified in a series of women with premature ovarian failure (POF). STUDY DESIGN: Karyotypes were reviewed for all women referred to our cytogenetic laboratory over a five-year interval with the diagnosis of POF. Thirty women aged less than 40 with unexplained secondary amenorrhea and elevated follicle-stimulating hormone were included. RESULTS: Of the 30 patients, 26 had a normal karyotype and 4 showed the following X-chromosome abnormalities: 46,Xi(Xq), 45,X/46,XX mosaic, 46,X,der(X)t(X;Y)(q28;q12) mat and 46,X,t(X;5)(q22;q11.2) mat. In the two families with familial translocations, carrier females within each family showed considerable variability in age at onset of menopause. CONCLUSION: Both familial and nonfamilial X-chromosome abnormalities can be identified in women with POF. Cytogenetic studies should not be limited to those patients with very-early-onset POF.     

47,XXX in an adolescent with premature ovarian failure and autoimmune disease

BACKGROUND: Premature ovarian failure (POF) may be idiopathic or may be associated with genetic or autoimmune disorders. The 47,XXX karyotype has been associated with POF and other genitourinary anomalies. CASE: A 17-year-old woman with a history of immune thrombocytopenic purpura was referred to the adolescent medicine clinic for evaluation of oligomenorrhea with secondary amenorrhea. Evaluation revealed hypergonadotrophic premature ovarian failure, a positive antinuclear antibody, and the 47,XXX karyotype. She has since developed a positive anti-cardiolipin antibody but does not meet diagnostic criteria for systemic lupus erythematosis. CONCLUSION: The presence of known autoimmune disease in a woman with POF should not dissuade the clinician from evaluating for a potential genetic cause.     

Assessment of the role of laparoscopic ovarian biopsy.

Seventy-four patients with either endocrine and/or infertility problems were subjected to laparoscopic ovarian biopsy. The patients were divided into 4 categories: those with primary amenorrhea, secondary amenorrhea, ovarian androgenic hyperfunction, and infertility. The results were critically examined to evaluate the procedure in the investigation and treatment of each of these disorders. It was concluded that laparoscopic ovarian biopsy is most helpful in primary amenorrhea but justified in secondary amenorrhea only if a histologic diagnosis of premature ovarian failure is though to be essential. Patients with ovarian androgenic hyperplasia should not be candidates for the procedure as the laparoscopic appearance of the ovaries offered equally valuable information and the hazards of biopsy in this particular group of patients outweighed its diagnostic and therapeutic usefulness. The ovarian biopsy offered very little benefit for the infertility patients.     

General mechanisms of premature ovarian failure and clinical check-up

Premature ovarian failure (POF) is defined as the cessation of ovarian function under the age of 40 years. It is characterized by primary or secondary amenorrhea for at least four months, sex steroid deficiency and elevated serum gonadotropin concentrations. The diagnosis is confirmed by the detection of menopausal FSH levels on at least two occasions a few weeks apart in a woman before the age of 40. It occurs in 1/10,000 in women below the age of 20, 1/1,000 below 30 and 1% in women before the age of 40. Tthe classic etiologies are Turner syndrome, pelvic surgery, radiotherapy or chemotherapy. Although new genetic etiologies have been found in the past 10 years, the cause of POF is unknown in more than 75% of cases. Hormone replacement therapy should be administered in order to avoid vascular diseases and osteoporosis. For infertility, the most successful treatment remains assisted conception with donated oocytes.     

Twin gestation two years after the diagnosis of premature ovarian failure in a woman on hormone replacement therapy. A case report

BACKGROUND: Premature ovarian failure (POF) is a condition causing amenorrhea, hypoestrogenism and elevated gonadotropins before the age of 40 years and affects around 10% of patients seeking evaluation for secondary amenorrhea. Although it is a rare event, pregnancy has occurred in this group of patients. CASE: A successful twin pregnancy occurred in a 30-year-old woman two years after the diagnosis of POF. Cyclic hormone replacement therapy was initiated after the diagnosis. Twenty-one months later, ultrasound revealed an 8-week twin pregnancy. Two healthy infants, a boy and a girl, were delivered at 36 gestational weeks. CONCLUSION: There are no clinical or laboratory features that unequivocally establish the diagnosis of POF. Neither high levels of gonadotropins nor an ovarian biopsy with rare follicles excludes the possibility of pregnancy. Even though pregnancy in patients with POF is very unlikely, patients should be informed of this possibility, and a contraceptive method should be considered if pregnancy is not desired.     

Diagnostic role of inhibin B in resistant ovary syndrome associated with secondary amenorrhea

To report two rare cases of gonadotropin-resistant ovary syndrome associated with secondary amenorrhea and normal levels of inhibin B.Case report.Two university teaching hospitals.Two women presenting with secondary amenorrhea and infertility. The control group for the inhibin B levels consisted of 30 cycling women of reproductive age.Medical history, physical examination, laboratory data, histologic findings, and IVF results.Diagnosis and treatment of resistant ovary syndrome.Case 1 was a 25-year-old woman with secondary amenorrhea and primary infertility. She had high serum levels of FSH and LH, low E(2) levels, and normal inhibin B levels (62 pg/mL). Karyotype was 46,XX, and ovarian biopsy showed primordial follicles with oocytes. Administration of GnRH analogue with hMG for 15 days did not affect E(2) levels. She had a successful pregnancy with IVF using donor oocytes. Case 2 was a 24-year-old woman with secondary amenorrhea. She had elevated serum levels of FSH and LH, low E(2) levels, and normal inhibin B levels (57 pg/mL). Karyotype was 46,XX and ovarian biopsy showed primordial follicles. Administration of GnRH analogue with hMG for 12 days did not affect E(2) levels. Both women were given estrogen-progestin replacement therapy.Inhibin B has a diagnostic role in women with gonadotropin-resistant ovary syndrome associated with secondary amenorrhea. A review of the literature confirms the uniqueness of the diagnostic role of inhibin B in these cases.     

Cytogenetic studies in primary amenorrhea

Cytogenetic studies in 48 cases of primary amenorrhea are reported. The following abnormalities were analyzed: 3 cases of Turner's syndrome, 3 cases of Turner's mosaicism, 3 cases of feminizing testes, 2 cases of incomplete testicular feminization syndrome of Morris and Mahesh, 7 cases of Mullerian agenesis with absent vagina and functioning ovaries, 13 cases of gonadal dysgenesis with streak gonads, 1 case of pure gonadal dysgenesis, 2 cases of imperforate hymen with hematocolpos and hematometra, 1 case of tubovarian mass and 1 case of juvenile polycystic ovarian syndrome. It is suggested that management of an patient with primary amenorrhea whose sex karyotype includes an XY cell line should include gonadal excision because of increased risk of neoplasia.