Ovarian cyst

卵巢囊肿
  • 文章类型: Letter
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  • 文章类型: Journal Article
    背景:关于将经阴道自然腔道内镜手术(vNOTES)作为卵巢囊肿的治疗选择,缺乏前瞻性临床研究证据。这项研究的目的是评估使用vNOTES治疗卵巢囊肿的可行性和安全性。
    方法:我们的研究包括18至70岁的女性,她们打算接受良性病变的手术治疗。采用分层阻断随机化将参与者分组。主要目的是评估指定组是否遵守推荐的卵巢囊肿切除术或附件切除术的手术技术,对替代手术方法没有任何偏差。
    结果:共有196名患者被纳入研究,每组的所有手术都按照指定的程序进行。其中,卵巢囊肿切除层为vNOTES组58例,传统腹腔镜(CL)组58例。附件层包括vNOTES组40例和CL组40例。利用敏感性分析,对于vNOTES组和CL组之间的比例差异,双侧95%置信下限确定为5.5%.这些下限低于10%的预定非劣效性界限。
    结论:研究结果表明,在附件切除术或卵巢囊肿切除术方面,vNOTES不亚于CL。vNOTES可以被认为是一种更微创的手术方法,因为它减少了术后疼痛,更快的恢复,没有可见的切口。总的来说,VNOTES被证明是安全的,可行,和侵入性较小的治疗选择。
    背景:本研究在中国临床试验注册中心进行了回顾性注册,注册号为ChiCTR2100052223(22-10-2021)。
    BACKGROUND: There is a scarcity of prospective clinical research evidence regarding the utilization of transvaginal natural orifice translumenal endoscopic surgery (vNOTES) as a treatment option for ovarian cysts. The objective of this study was to assess the feasibility and safety of employing vNOTES for the management of ovarian cysts.
    METHODS: Our study included women between the ages of 18 and 70 who intended to undergo surgical intervention for benign lesions. Stratified blocked randomization was employed to allocate participants into groups. The main objective was to assess whether the assigned group adhered to the recommended surgical technique for ovarian cystectomy or adnexectomy, without any deviation to alternative surgical methods.
    RESULTS: A total of 196 patients were included in the study, with all surgeries in each group being conducted according to the assigned procedures. Among them, the ovarian cystectomy layer included 58 cases in the vNOTES group and 58 cases in the conventional laparoscopy (CL) groups. The adnexectomy layer included 40 cases in the vNOTES group and 40 cases in the CL group. Utilizing a sensitivity analysis, the two-sided 95% lower confidence limit was determined to be 5.5% for the disparity in proportions between the vNOTES groups and CL groups. These lower limits fell below the predetermined non-inferiority margin of 10%.
    CONCLUSIONS: The study findings demonstrate that vNOTES was not inferior to CL in terms of adnexectomy or ovarian cystectomy. vNOTES can be considered a more minimally invasive surgical approach, as it results in reduced postoperative pain, faster recovery, and absence of visible incisions. Overall, vNOTES proves to be a safe, feasible, and less invasive treatment option.
    BACKGROUND: This study retrospectively registered with the China Clinical Trial Registry with the registration number ChiCTR2100052223(22-10-2021).
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  • 文章类型: Journal Article
    本研究的目的是探讨子宫内膜异位症患者行规范化腹腔镜手术后卵巢储备功能下降的危险因素,并进行评估,为有生育要求的患者提供相应的临床指导。
    前瞻性分析2018年1月至2023年9月北京协和医院收治的233例子宫内膜瘤患者和57例非子宫内膜瘤卵巢囊肿患者的抗苗勒管激素(AMH)水平和其他临床资料。比较研究组的治疗前AMH水平,以评估子宫内膜瘤对卵巢储备的影响,并分析治疗后AMH的减少,以确定导致这种变化的潜在危险因素.
    治疗前AMH水平在子宫内膜瘤和非子宫内膜瘤卵巢囊肿患者之间没有显著差异。在子宫内膜瘤组中,年龄较大,较高的体重指数(BMI),并且发现月经周期较短与治疗前AMH水平降低有关(p<0.05)。出现双侧囊肿的参与者,高级手术分期,与没有这些条件的患者相比,或完全封闭的道格拉斯袋在治疗前显示出显著较低的AMH水平(p<0.05)。此外,他们的AMH水平在接受腹腔镜膀胱切除术后一年内进一步下降(p<0.05).然而,成功怀孕和未成功怀孕的患者术后AMH水平无差异(p>0.05)。
    腹腔镜子宫内膜瘤切除术会对卵巢储备产生不利影响,特别是在双侧囊肿切除期间,当患者被诊断为患有较高的子宫内膜异位症时,进一步影响卵巢功能。应当指出,AMH水平的下降不一定表明生育率绝对下降。因此,进行全面的患者评估并提供全面的患者教育至关重要,以便为保留生育能力提供适当的指导。
    UNASSIGNED: The objective of our study was to investigate the risk factors for a decrease in ovarian reserve in patients with endometriomas after standardized laparoscopic procedures and evaluation to provide corresponding clinical guidance for patients with fertility requirements.
    UNASSIGNED: Anti-Müllerian hormone (AMH) levels and other clinical data from 233 patients with endometriomas and 57 patients with non-endometrioma ovarian cysts admitted to the Peking Union Medical College Hospital between January 2018 and September 2023 were prospectively analysed. The pretreatment AMH levels of the study groups were compared to assess the impact of endometrioma on ovarian reserve, and the decrease in AMH after treatment was analysed to determine potential risk factors contributing to this change.
    UNASSIGNED: Pretreatment AMH levels did not significantly differ between patients with endometriomas and those with non-endometrioma ovarian cysts. Within the endometrioma group, older age, higher body mass index (BMI), and shorter menstrual cycles were found to be associated with decreased AMH levels prior to treatment (p<0.05). Participants presenting with bilateral cysts, advanced surgical staging, or a completely enclosed Douglas pouch demonstrated significantly lower levels of AMH prior to treatment compared to those without these conditions (p<0.05). Furthermore, their AMH levels further declined within one year after undergoing laparoscopic cystectomy (p<0.05). However, there was no difference in AMH levels after surgery between patients who successfully became pregnant and those who did not (p>0.05).
    UNASSIGNED: Laparoscopic removal of endometriomas can adversely affect ovarian reserve, especially during bilateral cysts removal and when patients are diagnosed as having a higher stage of endometriosis, further impacting ovarian function. It should be noted that a decrease in AMH levels may not necessarily indicate an absolute decline in fertility. Therefore, it is crucial to conduct thorough patient evaluations and provide comprehensive patient education to offer appropriate guidance for fertility preservation.
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  • 文章类型: Journal Article
    早期发现和诊断对于提高子宫内膜癌(EC)患者的治疗效果和生活质量很重要。本研究旨在分析围绝经期妇女异常子宫出血(AUB)不同子宫内膜病理类型的临床资料,为EC的预防和早期诊断提供依据。
    这项前瞻性观察研究共纳入462例围绝经期AUB患者。对怀疑子宫内膜病变的患者进行子宫内膜活检。根据病理检查结果,将患者分为子宫内膜息肉组(EP组)(n=71),子宫内膜增生无异型组(EH)(n=59),不典型子宫内膜增生(AEH)(n=36),和EC组(n=27)。比较4组子宫内膜病史危险因素及超声影像学特点。
    27名女性被诊断患有EC(5.84%)。51-55岁女性组AEH和EC患病率明显高于40-45岁女性和46-50岁女性组(P<0.05)。年龄,身体质量指数,随着子宫内膜病理类型的发展,糖尿病病史逐渐增多。此外,子宫内膜血流的相关指数逐渐升高,子宫内膜回声不均的比例,子宫内膜-子宫肌层连接不清(EMJ),卵巢囊肿也逐渐增多。然而,子宫内膜厚度(ET)和子宫内膜体积(EV)在子宫内膜病理组间比较差异无统计学意义(P>0.05)。ET,EV,子宫内膜血管化指数,子宫内膜血流指数,卵巢囊肿组血管化血流指数明显增高(P<0.05),子宫内膜回声不均匀和EMJ不清的比例明显高于非卵巢囊肿组(P<0.05)。
    围绝经期女性AUB的最常见原因是良性子宫内膜病变。然而,年龄在51-55岁有子宫内膜高危因素和卵巢囊肿的女性应警惕AEH和EC。需要进行子宫内膜活检以确定子宫内膜是否恶性。
    UNASSIGNED: Early detection and diagnosis are important for improving the therapeutic effect and quality of life in patients with endometrial cancer (EC). This study aimed to analyze the clinical data of different endometrial pathological types in perimenopausal women with abnormal uterine bleeding (AUB) in order to provide evidence for the prevention and early diagnosis of EC.
    UNASSIGNED: A total of 462 perimenopausal women with AUB were enrolled in this prospective observational study. Endometrial biopsy was performed in patients with suspected endometrial lesions. According to the pathological examination results, the patients were divided into endometrial polyp group (EP) (n = 71), endometrial hyperplasia without atypia group (EH) (n = 59), atypical endometrial hyperplasia (AEH) (n = 36), and EC group (n = 27). The history risk factors and ultrasonic imaging characteristics of endometrium among the four groups were compared.
    UNASSIGNED: Twenty-seven women were diagnosed with EC (5.84%). The prevalence rate of AEH and EC in the group of 51- to 55-year-old women was significantly higher than that in the groups of 40- to 45-year-old women and of 46- to 50-year-old women (P < 0.05). The age, body mass index, and history of diabetes gradually increased with the development of endometrial pathological types. In addition, the correlation index of endometrial blood flow increased gradually, and the proportion of uneven endometrial echo, unclear endometrial-myometrial junction (EMJ), and ovarian cyst also increased gradually. However, no statistically significant difference was found when comparing endometrial thickness (ET) and endometrial volume (EV) among endometrial pathological groups (P > 0.05). The ET, EV, endometrial vascularization index, endometrial flow index, and vascularization flow index in the ovarian cyst group were significantly higher (P < 0.05), and the proportion of uneven endometrium echo and unclear EMJ were significantly higher compared with that in the non-ovarian cyst group (P < 0.05).
    UNASSIGNED: The most common cause of perimenopausal women with AUB was benign endometrial lesions. However, women aged 51-55 years old with endometrial high risk factors and ovarian cyst should be alert to AEH and EC. Endometrial biopsy needs to be performed to determine endometrial malignancy in necessity.
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  • 文章类型: Meta-Analysis
    本研究旨在探讨手术室护理干预对卵巢囊肿手术患者切口感染的影响。一个计算机系统被用来搜索PubMed,WebofScience,EMBASE,科克伦图书馆,万方,中国生物医学文献数据库,和中国国家知识基础设施数据库,从数据库开始到2023年10月,关于手术室护理干预在卵巢囊肿手术中应用的随机对照试验(RCT)。符合要求的文献由两名研究人员独立筛选,并提取数据并评估文献质量。采用RevMan5.4软件进行数据分析。最终纳入15个RCT,涉及1187名患者。分析显示,与常规护理相比,实施手术室护理干预在降低伤口感染发生率方面具有显著优势(1.17%vs.5.44%,比值比[OR]:0.30,95%置信区间[CI]:0.15-0.58,p=0.0004)和术后并发症(6.34%vs.25.17%,OR:0.20,95CI:0.13-0.29,p<0.00001),以及能够缩短手术时间(标准化平均差[SMD]:-3.93,95CI:-5.67至-2.20,p<0.00001),卵巢囊肿手术患者的住院时间(SMD:-2.54,95CI:-3.19至-1.89,p<0.00001)和胃肠道恢复时间(SMD:-1.61,95CI:-2.24至-0.98,p<0.00001)。本研究通过Meta分析证实,手术室护理干预可显著降低切口感染和并发症的发生率,缩短手术时间,胃肠恢复时间,卵巢囊肿手术后住院时间。
    We conducted this study aimed to explore the effect of operating room nursing intervention on wound infection in patients undergoing ovarian cysts surgery. A computer system was used to search PubMed, Web of Science, EMBASE, Cochrane Library, Wanfang, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure databases, from database inception to October 2023, for randomised controlled trials (RCTs) on the application of operating room nursing intervention to ovarian cyst surgery. Literature that met the requirements was independently screened by two researchers, and data were extracted and assessed for literature quality. RevMan 5.4 software was applied for data analysis. Fifteen RCTs involving 1187 patients were finally included. The analyses revealed that, compared with routine nursing, the implementation of operating room nursing intervention had a significant advantage in reducing the incidence of wound infections (1.17% vs. 5.44%, odds ratio [OR]: 0.30, 95% confidence interval [CI]: 0.15-0.58, p = 0.0004) and postoperative complications (6.34% vs. 25.17%, OR: 0.20, 95%CI: 0.13-0.29, p < 0.00001), as well as being able to shorten the operative time (standardised mean difference [SMD]: -3.93, 95%CI: -5.67 to -2.20, p < 0.00001), hospital length of stay (SMD: -2.54, 95%CI: -3.19 to -1.89, p < 0.00001) and gastrointestinal recovery time (SMD: -1.61, 95%CI: -2.24 to -0.98, p < 0.00001) in patients undergoing ovarian cysts surgery. This study confirmed by meta-analysis that the operating room nursing intervention can significantly reduce the incidence of wound infection and complications, shorten the operative time, gastrointestinal recovery time, and hospital length of stay after ovarian cyst surgery.
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  • 文章类型: Journal Article
    越来越多的观察性研究表明,激素生殖因素与卵巢囊肿有关,一种常见的妇科疾病。通过调查生殖因素的因果关系,包括第一胎年龄(AFB),进行了两个样本的孟德尔随机化(MR)。自然绝经年龄(ANM),和初潮年龄(AAM),和卵巢囊肿(OC)的风险。
    摘要统计是从大型全基因组关联研究(GWAS)收集的,我们使用了两个样本的MR研究来阐明AFB暴露之间的因果关系(N=542,901),ANM(N=69,360),和AAM(N=29,346)和OC的结果(N病例=20,750,N对照=107,564)。我们分别选择了51、35和6个单核苷酸多态性(SNP)作为工具变量(IVs),用于测定AFB的影响。ANM,和OC上的AAM,分别。然后,因果关系通过多种方法进行了检验,包括逆方差加权法,MR-Egger回归,和加权中位数法。此外,MR-PRESSO方法也用于验证水平多效性。随后,我们调整MR设计的混杂因素。
    MR分析结果表明,AFB与OC呈负相关(IVWBeta:-0.09,OR:0.91,95%CI:0.86-0.96,p=0.00185),AAM越大,OC风险越低(IVWβ:-0.10,OR:0.91,95%CI:0.82-0.99,p=0.0376)。然而,ANM与OC呈正相关(IVWβ:0.05,OR:1.05,95%CI:1.03-1.08,p=8.38×10-6)。调整BMI后,酒精摄入频率,曾经抽烟,我们还获得了AFB和OC之间的负相关关系(p<0.005)。同时,我们调整了体重,酒精摄入频率,和高度,然后发现年龄较大的AMN与OC风险增加之间存在因果关系(p<0.005)。
    生殖因素对OC发育的因果影响,受AFB影响,ANM,和AAM,被发现令人信服。在调整了混杂因素之后,我们还成功地发现了年轻AFB的实质性因果效应,年轻的AAM,和年龄较大的ANM患OC的风险增加。
    Increasing observational studies have indicated that hormonal reproductive factors were associated with ovarian cyst, a common gynecological disease. A two-sample Mendelian randomization (MR) was carried out by investigating the causality of reproductive factors including age at first birth (AFB), age at natural menopause (ANM), and age at menarche (AAM), and the risk of ovarian cyst (OC).
    Summary statistics were collected from a large genome-wide association study (GWAS), and we used a two-sample MR study to clarify the causal association between the exposure of AFB (N = 542,901), ANM (N = 69,360), and AAM (N = 29,346) and the outcome of the OC (N case = 20,750, N control = 107,564). We separately selected 51, 35, and 6 single-nucleotide polymorphisms (SNPs) as instrumental variables (IVs) for assaying the influence of AFB, ANM, and AAM on OC, respectively. Then, the causal relationship was tested through multiple approaches including an inverse-variance weighted method, an MR-Egger regression, and a weighted median method. In addition, the MR-PRESSO method was also used to verify the horizontal pleiotropy. Subsequently, we adjust the confounders for MR design.
    The MR analysis results showed that AFB was negatively associated with the OC (IVW Beta: -0.09, OR: 0.91, 95% CI: 0.86-0.96, p = 0.00185), and the greater AAM decreased the risk of OC (IVW Beta: -0.10, OR: 0.91, 95% CI: 0.82-0.99, p = 0.0376). However, ANM has a positive correlation with the OC (IVW Beta: 0.05, OR: 1.05, 95% CI: 1.03-1.08, p = 8.38 × 10-6). After adjusting BMI, alcohol intake frequency, and ever smoked, we also obtained a negative relationship between AFB and OC (p < 0.005). Meanwhile, we adjusted weight, alcohol intake frequency, and height, and then found a causal relationship between older AMN and an increased risk of OC (p < 0.005).
    A causal effect of reproductive factors on the development of OC, affected by AFB, ANM, and AAM, was found convincingly. After adjusting the confounders, we also successfully found the substantial causal effect of younger AFB, younger AAM, and older ANM on an increased risk of OC.
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  • 文章类型: Journal Article
    使用双样本孟德尔随机方法(MR)探索卵巢囊肿与抑郁症之间的因果关系。
    基于来自全基因组关联研究的数据,选择卵巢囊肿和抑郁症的遗传变异作为工具变量,以及孟德尔随机化分析使用逆方差加权(IVW)作为主要分析方法和MR-Egger回归分析,MR-PRESSO和其他敏感性分析方法作为补充。
    IVW分析显示卵巢囊肿与抑郁症之间存在直接因果关系(OR=1.040;95%CI:1.003,1.078;p=0.031)。同时,遗传预测的抑郁症对卵巢囊肿有因果关系(OR=1.327.;95%CI:1.197,1.470;p<0.001)。敏感性分析如MR-Egger回归分析和MR-PRESSO表明IVW结果是稳健和可靠的。
    这项研究表明,由于卵巢囊肿和女性抑郁症是互为因果的,女性卵巢囊肿和抑郁症的共病,除诊断和治疗抑郁症或卵巢囊肿外,应积极关注并给予适当的预防和治疗。
    UNASSIGNED: Explore the causal relationship between the ovarian cyst and depression using a two-sample Mendelian randomization approach (MR).
    UNASSIGNED: Based on data pooled from genome-wide association studies, genetic variants of the ovarian cyst and depression were selected as instrumental variables, as well as the Mendelian randomization analysis was conducted using inverse variance weighted (IVW) as the main analysis method and MR-Egger regression analysis, MR-PRESSO and other sensitivity analysis methods as supplements.
    UNASSIGNED: The IVW analysis showed a direct causal association between ovarian cysts and depression (OR=1.040; 95% CI: 1.003, 1.078; p=0.031). Meantime, there was a causal effect of genetically predicted depression on ovarian cysts (OR=1.327.; 95% CI: 1.197, 1.470; p<0.001). Sensitivity analyses such as MR-Egger regression analysis and MR-PRESSO indicated that the IVW results were robust and reliable.
    UNASSIGNED: This study suggested since ovarian cysts and female depression are mutually causal, the comorbidity of ovarian cysts and depression in women should be actively attended to and given appropriate prevention and treatment besides the diagnosis and treatment of depression or ovarian cysts.
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  • 文章类型: Letter
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  • 文章类型: Case Reports
    子宫内膜异位症(EM)是不孕的常见原因,卵巢子宫内膜异位囊肿可能会影响卵巢储备,排卵,和子宫内膜容受性。大多数EM病例是良性的;然而,EM也可能容易发生恶性转化,与渗透生长有关,和复发或远处转移。在这项研究中,我们报道了在控制性卵巢刺激(COS)之前通过卵巢子宫内膜异位囊肿穿刺发现的非典型囊肿的处理.
    由于EM和双侧输卵管阻塞,患者需要进行体外受精治疗。在开始促性腺激素(Gn)治疗之前,右侧卵巢EM囊肿穿刺,所得液体细胞学病理显示形态不典型。随后,与患者讨论了该病例并进行了伦理审查。Gn是根据患者的意愿启动的,最终获得6个第3天的胚胎并冷冻保存。之后,卵巢子宫内膜瘤的腹腔镜膀胱切除术未发现恶变。该患者在复苏和移植胚胎后实现了临床妊娠。
    总之,EM相关性不孕症患者在接受辅助生殖治疗时存在卵巢癌形成的风险;在开始此类治疗之前,应评估并尽量减少这种风险。
    UNASSIGNED: Endometriosis (EM) is a common cause of infertility, and an ovarian endometriotic cyst may affect the ovarian reserve, ovulation, and endometrial receptivity. The majority of EM cases are benign; however, EM may also be prone to malignant transformation, associated with infiltrative growth, and recurrent or distant metastasis. In this study, we report the management of an atypical cyst discovered through ovarian endometriotic cyst puncture prior to controlled ovarian stimulation (COS).
    UNASSIGNED: The patient required in vitro fertilization treatment due to EM and bilateral fallopian tube obstruction. Prior to initiating gonadotropin (Gn) treatment, the right ovarian EM cyst was punctured; cytological pathology of the obtained fluid revealed an atypical morphology. Subsequently, the case was discussed with the patient and ethically reviewed. Gn was initiated according to the patient\'s wishes, and six day-3 embryos were finally obtained and cryopreserved. Afterwards, laparoscopic cystectomy of the ovarian endometrioma revealed no malignant transformation. The patient achieved clinical pregnancy after resuscitation and transplantation of the embryo.
    UNASSIGNED: In summary, patients with EM-associated infertility are at risk of ovarian cancer formation when undergoing assisted reproduction treatment; therefore, this risk should be evaluated and minimized before initiating such treatment.
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  • 文章类型: Journal Article
    细胞色素P450氧化还原酶缺乏症(PORD)是一种罕见的先天性肾上腺增生,可表现为骨骼畸形,模棱两可的生殖器,和由细胞色素P450氧化还原酶(POR)突变引起的月经紊乱,影响到所有微粒体细胞色素P450和一些与胆固醇有关的非P450酶的电子转移,甾醇,和药物代谢。随着分子生物学和医学遗传学的发展,报告了越来越多的PORD病例,随着对表型-基因型相关性和最佳治疗的潜在机制的研究,PORD的临床范围得到了扩展。然而,由于对病情的不了解,诊断挑战和管理困境仍然存在,与其他疾病重叠的表现,也没有明确的治疗指南.延迟诊断和管理可能导致不当的性别分配,由于手术切除破裂的卵巢大囊肿而导致生殖能力丧失,和危及生命的疾病,如气道阻塞和肾上腺危象。临床结果和预后,受特定POR突变的影响,存在额外的遗传或环境因素,和管理,包括发育畸形或肾上腺危象导致的早逝,卵巢大囊肿自发性破裂后双侧卵巢切除术,生殖器歧义,青春期发育异常,和几乎正常的表型,通过辅助生殖成功妊娠结局。因此,及时诊断,包括采用侵入性和非侵入性技术的产前诊断,以及适当的管理对于改善患者预后至关重要.然而,即使在确诊的情况下,需要全面评估以避免严重并发症,如染色体检查,以帮助性别分配和评估肾上腺功能,以检测部分肾上腺功能不全。近年来,人们注意到,适当的激素替代疗法可以导致卵巢大囊肿的减少或消退,健康的婴儿可以通过体外受精和冷冻胚胎移植分娩,在充分控制多种激素失衡后。POR突变对药物代谢的影响可能是复杂的。独特的挑战发生在女性PORD患者,如卵巢大囊肿容易自发破裂,男性化生殖器出生后无进展,更常受青春期发育影响,和生育能力受损。因此,本文仅对46例XXPORD患者进行综述,总结其潜在的分子发病机制,经典和非经典PORD的鉴别诊断,和定制治疗以保持健康,避免严重并发症,促进生育。
    Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of congenital adrenal hyperplasia that can manifest with skeletal malformations, ambiguous genitalia, and menstrual disorders caused by cytochrome P450 oxidoreductase (POR) mutations affecting electron transfer to all microsomal cytochrome P450 and some non-P450 enzymes involved in cholesterol, sterol, and drug metabolism. With the advancement of molecular biology and medical genetics, increasing numbers of PORD cases were reported, and the clinical spectrum of PORD was extended with studies on underlying mechanisms of phenotype-genotype correlations and optimum treatment. However, diagnostic challenges and management dilemma still exists because of unawareness of the condition, the overlapping manifestations with other disorders, and no clear guidelines for treatment. Delayed diagnosis and management may result in improper sex assignment, loss of reproductive capacity because of surgical removal of ruptured ovarian macro-cysts, and life-threatening conditions such as airway obstruction and adrenal crisis. The clinical outcomes and prognosis, which are influenced by specific POR mutations, the presence of additional genetic or environmental factors, and management, include early death due to developmental malformations or adrenal crisis, bilateral oophorectomies after spontaneous rupture of ovarian macro-cysts, genital ambiguity, abnormal pubertal development, and nearly normal phenotype with successful pregnancy outcomes by assisted reproduction. Thus, timely diagnosis including prenatal diagnosis with invasive and non-invasive techniques and appropriate management is essential to improve patients\' outcomes. However, even in cases with conclusive diagnosis, comprehensive assessment is needed to avoid severe complications, such as chromosomal test to help sex assignment and evaluation of adrenal function to detect partial adrenal insufficiency. In recent years, it has been noted that proper hormone replacement therapy can lead to decrease or resolve of ovarian macro-cysts, and healthy babies can be delivered by in vitro fertilization and frozen embryo transfer following adequate control of multiple hormonal imbalances. Treatment may be complicated with adverse effects on drug metabolism caused by POR mutations. Unique challenges occur in female PORD patients such as ovarian macro-cysts prone to spontaneous rupture, masculinized genitalia without progression after birth, more frequently affected pubertal development, and impaired fertility. Thus, this review focuses only on 46, XX PORD patients to summarize the potential molecular pathogenesis, differential diagnosis of classic and non-classic PORD, and tailoring therapy to maintain health, avoid severe complications, and promote fertility.
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