目的 阐明醋酸曲谱瑞林(GnRHa)在体外受精-胚胎移植(IVF-ET)拮抗剂方案黄体支持中的作用.方法 采用1∶1倾向评分匹配,回顾性分析2021年 11 月至2022年12月在广西壮族自治区生殖医学与遗传中心就诊,符合纳入标准的146例患者病历资料.根据黄体支持不同分2组.对照组73例:常规黄体支持;GnRHa组73例:常规黄体支持+GnRHa.比较两组的基线资料及妊娠结局.结果 两组基线资料差异无统计学意义(P＞0.05).GnRHa组优质胚胎的占比明显低于对照组(73.43％vs.83.33％,P=0.041),但与对照组相比,GnRHa组种植率、临床妊娠率、多胎率、早期流产率、继续妊娠率、活产率均升高,而生化妊娠率、早期流产率均降低,虽然差异均无统计学意义(P＞0.05).结论 拮抗剂方案添加GnRHa黄体支持可能有益,但在广泛应用于临床之前,需多中心、大样本的RCT进行论证,以明确不同人群添加GnRHa黄体支持的利弊.

目的:总结1个由原纤维蛋白1(fibrillin 1, FBN1)基因杂合突变导致轻型Geleophysic发育不良2型(Geleophysic dysplasia type 2, GD2)/Acromicric发育不良(Acromicric dysplasia, AD)的严重不匀称矮小中国家系7例患者的临床特征及诊治经验。方法:回顾总结2017年8月至2022年5月在中山大学附属第一医院儿科内分泌专科就诊的1个通过全外显子基因测序确定FBN1基因杂合突变致轻型GD2/AD家系的临床资料，并进行文献复习。结果:该家系三代13人中有7例患者，成年女性和男性各1例，儿童5例；均表现为出生后进行性生长衰竭，严重不匀称矮小，无典型面部特征。除Ⅱ-3外的6例患者(Ⅱ-1、Ⅲ-1~Ⅲ-5)经全外显子测序和Sanger测序验证提示FBN1基因第42号外显子中存在c.5099A>G(p.Tyr1700Cys)杂合错义突变，为致病突变，该突变曾出现于1个中国经典型AD家系。综合基因、临床特征及多系统评估，3例因合并心脏瓣膜异常诊断为轻型GD2，4例为轻型AD。对5例患儿(Ⅲ-1~Ⅲ-5)使用基因重组人生长激素(recombinant human growth hormone, rhGH；1.1~1.4 IU·kg －1·周 －1)治疗，并将促性腺激素释放激素类似物(gonadotropin releasing hormone analogue, GnRHa)应用于青春后期的2例女性患儿(Ⅲ-1、Ⅲ-2)，均取得了一定的促生长疗效。 结论:c．5099A>G(p.Tyr1700Cys)突变不仅可导致文献报道的经典型AD，还可引起本家系的非经典GD2型或AD(轻型GD2型/AD)。rhGH治疗的远期疗效值得进一步研究。

男，14岁2个月，8年多前发现生长缓慢，平均每年3 ~ 4 cm，3年前出现步态不稳。患儿系第2胎，孕40周出生，体重3.35 kg，出生及喂养无特殊。查体：身高144.5 cm(<-3SD)，体重36 kg，弓状眉，高耳位，左眼斜视，面部多痣，口微张，双臂细长，臂展147.5 cm，蜘蛛指，拇指及拇趾宽大，左侧隐睾，双侧睾丸均约3 mL，阴茎长4 cm，未见阴毛、腋毛，胸椎向左弯曲，行走时向右倾斜(图1)。生长激素激发试验：峰值生长激素3.6 ng/mL(< 10 ng/mL)，血类胰岛素样生长因子-1 125 ng/mL(183 ~ 850 ng/mL)，GnRHa激发试验：峰值黄体生成素51.7 IU/L(0.8 ~ 6.0 IU/L)、峰值卵泡刺激素17.6 IU/L(1.2 ~ 7.0 IU/L)，甲状腺功能、骨代谢检测、促肾上腺皮质激素+皮质醇、硫酸去氢表雄酮、性激素结合球蛋白均正常。X线：骨化中心10/10颗，骨龄约13岁(GP图谱法)。脊柱正侧位片：骶椎曲度欠自然。头颅MRI：垂体无异常，脑外侧间隙增宽，双侧侧脑室增宽(图2)。心、肝、肾以及肾上腺B超均未见异常。其母孕期无特殊史，父母及姐姐身高、体重及智力运动均正常，未见畸形。本研究通过了本院医学伦理委员会的审查(批准号2020-IRB-195)，患儿监护人签署了知情同意书。

28岁女性，有子宫内膜异位症及肌瘤剔除史，在辅助生育治疗中，用促性腺激素释放激素激动剂（GnRha）垂体降调冻胚移植准备期间发生腹腔妊娠破裂出血。患者以突发下腹痛入院，无停经及阴道出血，术前β绒毛促性腺激素（β-HCG）确认妊娠，彩超提示宫旁不均回声团，急诊腹腔镜探查，最终确认腹腔妊娠同时清除妊娠物，快速止血，术后恢复可。

目的:比较促性腺激素释放激素激动剂（GnRHa）、绒毛膜促性腺激素（HCG）在枸橼酸氯米芬（CC）联合人绝经期促性腺激素（HMG）促排卵治疗多囊卵巢综合征（PCOS）不孕中的应用效果。方法:选取2018年6月至2019年6月大连市妇幼保健院诊治的80例PCOS不孕患者，按随机数字表法分为GnRHa组和HCG组，每组40例。所有患者均采用CC联合HMG促排卵方案，当优势卵泡平均直径为18~20 mm时，GnRHa组采用GnRHa 0.1 mg诱导卵泡成熟，HCG组采用HCG 10 000 U诱导卵泡成熟。比较两组患者的排卵率、妊娠率、早期流产率、多胎妊娠率、卵巢过度刺激综合征（OHSS）率、未破裂卵泡黄素化综合征（LUFS）率。分析GnRHa、HCG在CC联合HMG促排卵治疗PCOS不孕中的应用效果。结果:两组患者排卵率、妊娠率、早期流产率、多胎妊娠率、LUFS率比较差异均无统计学意义（ P>0.05）。GnRHa组OHSS率低于HCG组[0比15.0%（6/40）]，差异有统计学意义（ P<0.05）。 结论:CC联合HMG促排卵治疗PCOS不孕症时，GnRHa诱导卵泡成熟OHSS发生率较HCG低。

Objective::Although consensus on the optimal endometrial preparation protocol for frozen-thawed embryo transfer (FET) is lacking, this is particularly true for patients with infertility and a history of endometrial polyps (EPs). In this study, we aimed to investigate whether a gonadotropin-releasing hormone agonist combined with hormone replacement therapy (GnRHa-HRT) could improve pregnancy outcomes in single euploid FET for patients with a history of EPs.Methods::In this retrospective cohort study, 395 women who underwent their first single euploid FET cycle were divided into groups according to endometrial preparation protocols as follows: natural cycle (NC) ( n = 220), hormone replacement therapy (HRT) ( n = 122), and GnRHa-HRT groups ( n = 53). Subsequently, the FET cycles in the three groups were subdivided according to maternal age. All patients underwent hysteroscopic polypectomy before FET, and their EPs were confirmed by pathology. Results::No statistically significant differences were observed in live birth rates among the three groups (58.64% vs. 58.20% vs. 56.60%, P = 0.964). Furthermore, the rates of miscarriage, ectopic pregnancy, premature live birth, and pregnancy complications were comparable among the three groups ( P >0.05). After adjusting for potential confounding factors, no significant differences in pregnancy outcomes were reported between the groups (adjusted odds ratios [ OR] and 95% credible intervals [ CI] for live birth rate, HRT vs. NC: 1.119, 0.660–1.896, P = 0.677; GnRHa-HRT vs. NC: 1.165, 0.610–2.226, P = 0.643). Additionally, the pregnancy outcomes of the FET cycle were not influenced by the endometrial preparation protocols in the subgroups when stratified by maternal age ( P >0.05). Conclusion::GnRHa-HRT did not improve the pregnancy outcomes of the single euploid FET in patients with a history of EPs.

Objective::To compare the efficacy of the traditional Chinese medicine SanJieZhenTong (SJZT) capsules versus gonadotropin-releasing hormone analogs (GnRHa) or oral contraceptives (OCs) in the postoperative treatment of moderate-to-severe endometriosis.Methods::In this prospective clinical trial, women with stage III-IV endometriosis according to the revised American Fertility Society scoring system received three doses of GnRHa immediately after laparoscopic conservative surgery, followed by random assignment to receive treatment with SJZT, GnRHa, or OCs for another 6 months. The primary endpoint was 2-year recurrence, and the secondary endpoints were adverse events, changes in physical function, and quality of life (QoL). Recurrence was assessed using Kaplan-Meier curves and log-rank tests. Generalized estimating equations were used to determine the parameters of the secondary endpoints.Results::A total of 66 women were randomly assigned to the SJZT ( n = 21), GnRHa ( n = 21), and OCs ( n = 24) groups. At a median follow-up of 22 months, no difference in recurrence was found ( P = 0.72), with one (4.8%), two (9.5%), and one (4.2%) incidence in the SJZT, GnRHa, and OCs groups, respectively. Expectedly, the incidence of side effects such as hot flush, insomnia, and arthralgia in the SJZT and OCs groups was significantly lower than that in the GnRHa group ( P = 0.00). In addition, the female sexual function index was significantly improved in the SJZT group, with a higher value than that in the GnRHa (odds ratio [ OR] = 5.25, 95% confidence interval [ CI]: 2.09-13.14, P = 0.00) and OCs ( OR = 3.94, 95% CI: 1.58-9.83, P = 0.00) groups. Conclusions::SJZT showed more effective pain relief and QoL improvement in patients with moderate-to-severe endometriosis than GnRHa or OCs did. Fewer adverse events than those observed with other agents indicate that this alternative medicine, SJZT, could be a novel option for the long-term management of endometriosis.

本文报道1例以高雄激素血症为临床表现，术后病理证实为卵巢非特异性类固醇细胞瘤的病例。患者为绝经后女性，临床表现为"胡须生长、头发稀疏、皮疹、阴蒂增大"。生化提示血睾酮、硫酸脱氢表雄酮、雌二醇升高，黄体生成素、卵泡刺激素降低。影像学见左侧肾上腺低密度小结节及左侧附件区实质占位。完善ACTH兴奋试验、hCG兴奋试验、双侧肾上腺及卵巢静脉采血后，考虑过多的雄激素来源于卵巢。注射促性腺激素释放激素类似物(GnRHa)后，睾酮水平下降至正常范围。后行腹腔镜双附件切除术，病理提示左附件非特异性类固醇细胞瘤。本例报道旨在提高对具有高雄激素临床表现的卵巢非特异性类固醇细胞瘤的认识。

目的:探讨乳腺癌患者行根治术后联合促性腺激素释放激素类似物（gonadotrophin releasing hormone analogue，GnRHa）的治疗效果及其对血清代谢物的影响。方法:对2019年5月至2021年5月期间收集济宁医学院附属医院130例乳腺癌患者的临床资料进行分析，所有患者均接受根治术治疗，依据随机数字表法将患者随机分为对照组和观察组，每组各65例。对照组患者在根治术后接受传统的化疗方案，即多柔比星、环磷酰胺和5-氟尿嘧啶的联合应用。观察组患者在根治术后接受新的化疗方案，即醋酸曲普瑞林和环磷酰胺的联合应用。分析两组患者的临床疗效及血清代谢物水平的差异。结果:观察组患者临床治疗有效率为93.8%，对照组疗效有效率为61.5%，观察组显著高于对照组，差异有统计学意义（ χ 2=19.57， P=0.000）。观察组患者中性粒细胞减少症和心脏毒性发生率分别为23.1%和7.7%，对照组患者中性粒细胞减少症和心脏毒性发生率分别为41.5%和21.5%，观察组显著低于对照组，差异有统计学意义（ χ 2=5.07、4.99， P=0.024、0.026）。观察组患者3年生存率为87.7%，对照组患者3年生存率为73.8%，观察组高于对照组，差异有统计学意义（ χ 2=4.01， P=0.045）。经过治疗后，甘氨胆酸、甘油脱氧胆酸、胞二磷胆碱、水样尿酸、溶血磷脂酸、皮质醇、花生酸、L-谷氨酸8种代谢物在两组患者血清中差异存在统计学意义（ P<0.05）。 结论:乳腺癌患者在根治术后联合GnRHa化疗治疗效果更好，患者不良反应发生率低，生存率高，这可能与血清代谢物水平存在关联。

目的:探讨中枢性性早熟(CPP)患儿促性腺激素释放激素类似物(GnRHa)治疗后月经初潮时间及其影响因素。方法:选择2017年1月至2020年6月在温州市妇女儿童医院就诊的71例CPP女性患儿的临床资料进行回顾性分析，观察患儿GnRHa停药至月经初潮时间，采用Pearson相关分析临床资料与治疗结束后月经初潮时间的相关性，采用多元线性回归分析影响CPP患儿治疗结束后月经初潮时间的因素。结果:CPP患儿初潮年龄(12.61±1.05)岁，患儿在GnRHa治疗结束(12.03±6.45)个月后出现月经初潮。Pearson相关显示，CPP患儿治疗结束至初潮间隔时间与起始Tanner分期、起始年龄、治疗时间、起始体重、起始BMI、起始BMI Z评分、起始骨龄、Δ骨龄均存在负相关(均 P<0.05)，与起始身高、Δ身高、Δ体重、ΔBMI、ΔBMI Z评分、起始PAH不存在相关性(均 P>0.05)。多元线性回归结果显示，CPP患儿治疗起始骨龄、治疗起始Tanner分期和Δ骨龄是CPP患儿GnRHa治疗结束至月经初潮间隔时间的影响因素(均 P<0.05)。 结论:CPP患儿GnRHa结束后月经初潮年龄为(12.61±1.05)岁，治疗结束至月经初潮间隔时间相关因素包括治疗起始乳房发育Tanner分期、治疗起始骨龄和Δ骨龄。