完全型雄激素不敏感综合征2例临床特点及处理

雄激素不敏感综合征(androgen insensitivity syndrome,AIS)又称为睾丸女性化综合征(testicular feminization syndrome,TFS),是一种X连锁遗传病,是男性假两性畸形中较常见的类型,可分为完全型AIS和不完全型AIS,其原因主要是雄激素受体(androgen receptor,AR)基因的突变导致其对雄激素产生抵抗和不应答。本文回顾南京医科大学附属妇产医院2例CAIS患者的临床资料及诊疗过程,以期能进一步提高对该病的认知及诊治水平。     

Social status constrains the stress response in the squirrel monkey.

The influence of dominance on the pituitary-adrenal and gonadal systems was evaluated in male squirrel monkeys. Basal and stress levels of plasma cortisol and testosterone were determined in eight male pairs across a 5-week period. The data indicated that squirrel monkeys have unusually high levels of steroid hormones in comparison to other species. Dominant males had higher levels of cortisol and testosterone and showed a smaller stress response than did subordinate males.     

The inferior supernumerary renal arteries: A classification into three types

Among cases that had multiple renal arteries on one side, an inferior supernumerary renal artery was found in 24/270 cases (ca. 9%) on the right and in 19/270 cases (ca. 7%) on the left, together with the usual renal artery. We have noticed that there are correlations between their levels of origin from the aorta and their positional relation to the ureter and the inferior vena cava (IVC). An inferior supernumerary renal artery (InfRA) of lower origin passes in front of the IVC and behind the ureter. An InfRA of middle origin passes in front of both the IVC and the ureter. An InfRA of upper origin passes behind the IVC and in front of the ureter or renal pelvis. In addition there was a tendency for the lower origin type to have an ureteric branch, while the middle and upper origin types had a gonadal branch. These findings suggest that different derivations lead to the inferior supernumerary renal arteries.     

46,XY女性性发育异常临床分析

目的探讨完全型雄激素不敏感综合征(CAIS)和46,XY单纯性腺发育不全综合征(Swyer综合征)2种最常见46,XY女性性发育异常疾病(DSD)的临床特征、诊疗方式、鉴别诊断要点。方法选择2002—2020年,于中山大学孙逸仙纪念医院就诊的临床病例资料完整的41例46,XY DSD患者,包括20例CAIS(CAIS组)患者和21例Swyer综合征(Swyer组)患者。对该41例患者的临床表现、实验室检查结果、术中情况及组织病理学检查结果进行回顾性分析。本研究遵循的程序符合2013年新修订的《世界医学协会赫尔辛基宣言》要求。结果①41例46,XY DSD患者在出生及成长过程中的社会性别均为女性,就诊年龄为12~38岁。2组患者年龄比较,差异无统计学意义(P>0.05)。CAIS组患者身高、体重均高于或重于Swyer组,并且差异有统计学意义(P<0.05)。②2组患者血清卵泡刺激素(FSH)、睾酮、雌二醇、17α-羟孕酮(17α-OHP)水平比较,差异均有统计学意义(P<0.05);而2组血清促黄体激素(LH)、催乳素、脱氢表雄酮(DHEA)水平比较,则差异均无统计学意义(P>0.05)。CAIS组患者抗苗勒管激素(AMH)水平均>16 ng/mL,Swyer组均<0.03 ng/mL。③39例接受手术治疗患者中,35例行腹腔镜下性腺切除术,4例行开腹肿瘤细胞减灭术。④CAIS组患者性腺肿瘤发生率为35.0%(7/20),Swyer组为36.8%(7/19)。CAIS组患者性腺有自伞端向腹股沟管迁移趋势,其中4例性腺位于腹股沟管内,Swyer组患者性腺均位于盆腔内。⑤41位患者出院后,均继续以女性性别生活,已婚者性生活无障碍。结论CAIS与Swyer综合征患者临床表现相似,CAIS患者存在苗勒管遗迹,Swyer综合征患者存在子宫发育不良等变异,并且均有不同程度的性腺迁移趋势。AMH水平检测可作为区别CAIS与Swyer综合征患者的特异性指标。     

Turner综合征自发性青春发育分析

目的探讨先天性卵巢发育不全综合征（Turnersyndrome,TS）患儿自发的青春发育与染色体核型及性激素水平之间的关系。方法30例Turner综合征患儿进行染色体检查,评估第二性征及性腺发育情况,检测性激素水平。结果染色体核型分4组,第1组45,XO,10例;第2组嵌合型,9例;第3组x染色体结构畸变,10例;第4组伴有Y染色体,1例。30例患儿随访至15周岁,其中10例出现不同程度的自发性青春发育,20例呈无性发育,4组患儿中以嵌合型TS出现自发青春发育几率最大。有青春发育患儿的性激素水平与无性发育患儿的性激素水平有显著差异。结论Turner综合征患儿自发性青春发育与染色体核型及性激素水平有密切相关性。     

绝经后女性内源性性激素及血脂水平与乳腺癌的关系

目的:探讨绝经后女性内源性性激素及血脂水平与乳腺癌的关系以及作为预测指标的可行性。方法:收集2011年7月—2014年6月期间手术治疗的绝经后女性乳腺癌患者274例(乳腺癌组)与同期因其他疾病收治的非乳腺疾病的绝经后患者279例(对照组);比较两组间性激素与血脂水平的差异,分析可能的乳腺癌预测指标。结果:乳腺癌组的雌二醇(E2)与睾酮(T)水平明显高于对照组(均P0.05),其他性激素与血脂指标两组间差异均无统计学意义(均P0.05)。分层分析显示,随E2与T水平升高,乳腺癌发病率增加,其中E2水平对乳腺癌的预测有较好的敏感性和特异性,受试者操作特征(ROC)曲线下面积(AUC)为0.730(95%CI=0.649~0.811),但T水平的预测作用不明显。结论:E2与T水平与绝经后女性乳腺癌有关,其中E2水平可作为预测因子之一,但尚未达到良好或者优秀标准。     

The effects of long-term estradiol-17beta treatment on the growth and physiology of female triploid brook trout (Salvelinus fontinalis)

Triploid female fish show impaired gonadal development, which results in the production of only a few oocytes relative to diploids. The rate of maturation of these few oocytes in much slower relative to those of diploids and is attributed to an insufficient estradiol-17beta (E(2)) stimulus. Female triploid brook trout, aged 2+, were fed E(2) for seven months (i.e., July 1998 to February 1999) in an attempt to increase plasma E(2) comparable to diploid levels and thereby accelerate rates of oocyte growth. Compared to triploids fed a normal diet (i.e., control-triploids), the administration of 30 mg E(2)/kg feed to triploids (i.e., E(2)-treated-triploids) led to the development of secondary sex characteristics, a significant reduction in hematocrit and total blood hemoglobin level, a decrease in plasma testosterone and no weight gain. Plasma vitellogenin was significantly higher in E(2)-treated-triploids than in control-triploids and diploids at every month except October 1999. Although greater than in the control-triploids, plasma E(2) for the E(2)-treated-triploids did not attain the high levels shown by the diploids during the months of peak vitellogenesis (i.e., September and October). Following maturation and spawning of diploids, sacrificed E(2)-treated and control-triploids showed no differences in ovarian development or liver size. The E(2) dose for the treated-triploids was increased to 80 mg E(2)/kg feed for approximately seven more weeks in a further attempt to increase plasma E(2), with no success. It is suggested that the low plasma E(2) of the treated-triploids was the result of a high metabolic clearance rate.     

Long-term gonadal toxicity after therapy for Hodgkin's and non-Hodgkin's lymphoma

Summary With the increasing cure rate of patients treated for Hodgkin's and non-Hodgkin's lymphoma, the evaluation of late effects on gonadal function remains an important issue. The gonadal function of relapse-free long-term survivors with high-grade non-Hodgkin's lymphoma (NHL) and Hodgkin's disease (HD) were studied; 24 of 119 patients with NHL treated between 1980 and 1990 and 66 of 364 patients with HD treated between 1975 and 1990 at Hannover University Medical School, who were younger than 45 years of age and in complete remission at the time of evaluation for at least 24 months after completion of therapy, were included into the analysis. Of 24 patients with NHL, 1/10 women (10%) and only 3/14 men (21%) showed signs of gonadal dysfunction. Three of these four patients had been treated with combined modality therapy followed by maintenance COP chemotherapy, resulting in high cumulative doses of cyclophosphamide (range: 12–43 g). In comparison, 13/26 (50%) women with HD suffered from premature ovarian failure, and 26/40 (65%) men showed signs of gonadal dysfunction with significant FSH elevations. No significant difference in the incidence of gonadal toxicity existed in patients treated with combined modality who received irradiation to either supra- or infradiaphragmatic radiation fields in combination with chemotherapy (70% versus 62%). A comparison of the chemotherapy regimens used in patients with NHL or HD shows that patients from both groups had received comparable median cumulative doses of cyclophosphamide, vincristine, and adriamycin, but only patients with HD had additionally received a median cumulative dose of 13.3 g of procarbazine per patient. A tendency towards a higher incidence of gonadal toxicity with higher cumulative doses of procarbazine received was found in patients with HD. The frequency of gonadal dysfunctions is markedly lower in patients treated for non-Hodgkin's lymphoma than in patients treated for Hodgkin's disease, approximately half of whom will be affected by long-term gonadal toxicity. Although the use of more intensive radiotherapy in patients with HD compared with NHL patients makes the evaluation of the influence of radiotherapy on gonadal toxicity more difficult, the current retrospective analysis raises the concern that, in addition to infradiaphragmatic radiotherapy, the use of procarbazine in regimens for the treatment of HD, like COPP or MOPP, may be a possible explanation for the differences in gonadal toxicity observed between patients with HD and those with NHL. Regimens including procarbazine should be avoided in patients wanting to preserve fertility since alternative chemotherapies with at least equal efficacy are available.     

36例X染色体异常的遗传学分析

目的通过对36例女性性发育异常患者的核型分析,进一步探讨X染色体异常的遗传学效应。方法采用外周血淋巴细胞培养制片、染色体G显带技术进行核型分析。结果36例性发育异常患者中X染色体数目异常26例,结构异常10例。结论女性X染色体异常可导致性腺发育不全,身材矮小,原发闭经,月经紊乱等,两条完整的X染色体对女性性腺及体征的发育是十分重要的。     

睾丸雄激素合成的调节机制及其研究进展

睾丸能产生精子和合成雄激素,前者在生精小管完成,后者由睾丸间质细胞(Leydig cell)完成.雄激素在促进男性性分化、青春期发育、维持第二性征和性成熟、维持男性生育等方面发挥重要作用.间质细胞合成雄激素功能受下丘脑-垂体-睾丸轴调控,经典的分子信号通路是黄体生成激素-黄体生成激素受体-环磷酸腺苷-蛋白激酶A(LH-LHR-cAMP-PKA)途径;实际上,雄激素合成还受睾丸内旁分泌、自分泌甚至细胞内分泌形式的局部调节,如泌乳素、胰岛素、胰岛素样生长因子1(IGF-1)、转化生长因子α(TGF-α)、TGF-β等;除cAMP外,Ca2+也是第二信使,钙调蛋白参与调节雄激素合成.