克氏综合征22例临床分析

1986年1月～2006年6月,我科收治克氏综合征(klinefelters' syndrome)患者22例,现报告如下。资料与方法一、一般资料本组22例,年龄7～31岁,其中18～31岁20例, 1例7岁患儿合并双隐睾,1例8岁患儿合并尿道下裂。维吾尔族10例,哈萨克族5例,回族5例,汉族2例。主要就诊原因为婚后不育12例,阴茎勃     

48,XXYY综合征4例报道

目的:探讨48,XXYY综合征患者的临床特点和助孕结局,提高对此类疾病的认识。方法:回顾性分析2011-2018年确诊的4例48,XXYY综合征患者的一般资料、临床表现、实验室检查、影像学特点、治疗及助孕结局,并进行文献复习。结果:4例48,XXYY综合征患者文化程度偏低,睾丸质地软、体积偏小,FSH与LH水平高,T水平低。2例患者射精功能障碍,呈无精液症表现;另外2例患者射精功能正常,精液常规检查均未见精子,精浆生化检查示果糖定量与中性α葡糖苷酶定量均正常。4例患者均行供精辅助生殖技术治疗,有3例获足月婴儿。结论:48,XXYY综合征患者常合并高促性腺激素性性腺功能减退,呈无精液症或非梗阻性无精子症表现,可通过供精辅助生殖技术治疗获得非生物学子代。     

XO/XY嵌合型性腺发育不全(附9例报告)

混合型性腺发育不全的定义:一侧性腺为发育不全的睾丸,一侧为条索状,染色体核型45,X/46,XY。本组9例嵌合体核型45,X/46,XY有多种表型与性腺病理。社会性别女8例,男1例;9例均有Turner综合征表现,5例合并阴蒂增大,2例有泌尿生殖窦。术中见双侧条索状性腺6例;一侧发育不全睾丸,一侧条索状性腺2例;与一侧为发育不全卵睾,一侧条索状性腺1例。病理检查一侧发育不全睾丸5例,对侧卵巢间质3例,Leydig与门细胞各1例;3例双侧为卵巢间质,其中1例一侧有原始卵泡,2例性腺染色体均为45,X;1例一侧性腺为卵睾,另一侧为卵巢间质。XO/XY嵌合型性腺发育不全从表型、性腺与病理表现均为多样化,唯有染色体核型一致为45,X/46,XY,因而采用XO/XY嵌合体性腺发育不全为此类患者的名称。本组3例已发生性腺母细胞与支持细胞肿瘤。全部行性腺与子宫切除术。     

Mirizzi综合征47例临床特点分析

目的 探索Mirizzi综合征的临床特点及诊治方法,提高诊治效果。方法 回顾性分析我院自2011年7月至2015年12月间经手术证实的47例Mirizzi综合征患者的临床资料。结果 47例Mirizzi综合征按Csendes分型,I型23例,II型11例,III型11例,IV型2例。本组患者均经手术治疗,其中行胆囊切除术20例,行胆囊切除术+胆管成形术3例,行胆囊切除+瘘口修补术21例,行胆肠吻合术2例,行胆囊切除术+肝门胆管成形术1例。术后无死亡病例,均痊愈出院。结论 Mirizzi综合征术前诊断仍较困难,术中需根据患者具体情况选择个性化手术方案,以减少术后并发症的发生。     

克氏综合征的研究进展

克氏综合征 (Ｋｌｉｎｅｆｅｌｔｅｒ’ｓＳｙｎｄｒｏｍｅ) ,即先天性睾丸发育不全 ,又称曲细精管发育不全症 ,由Ｋｌｉｎｅｆｅｌｔｅｒ于 194 2年首先确认这一病变。该病是一常见的性染色体异常疾病 ,根本缺陷为男性多一条Ｘ染色体 ,原因是由于配子发生时 ,在减数分裂过程中     

同卵双生克氏综合征1例

克氏综合征（Klinefelter’s syndrome）又称“小睾丸症”，是男性特有的染色体异常性疾病，常伴有睾丸功能及内分泌紊乱、小阴茎、性功能低下和精子形成障碍和不育。在无精子症患者中其发病率为7％～13％，新生儿中的发病率为0．1％-0．2％。但是同卵双生兄弟同患此病的病例报道较少，现在报道一例。     

双色荧光原位杂交检测46,XY/47,XXY少精子症患者精子性染色体

目的 :观察 1例 4 6 ,XY/ 4 7,XXY少精子症患者精子性染色体分离的情况。　方法 :用双色荧光原位杂交技术对手淫取精液的精子进行X染色体和Y染色体数目检测。　结果 :受检的 10 0个精子中 ,X精子占 4 9% ,Y精子占 4 8% ,无杂交信号的精子占 3%。X精子与Y精子比例与预期值相同约为 1∶1。4 6 ,XY/ 4 7,XXY少精子症患者与正常对照男性所携带XX精子和XY精子频率比较无统计学差异。　结论 :可以用患者本人的精子进行卵细胞胞质内单精子注射以获得妊娠。     

Klinefelter综合征14例报告

报告Klinefelter综合征14例。其特征是男性乳房女性化,两侧小睾丸,呈类阉体型,智力低下,呈无精子男性不育;染色体核型12例为XXY,2例分别为48XXXY和46XY/47XXY;性激素测定,血清滤泡刺激素及黄体生成素均明显高于正常5倍和3倍,睾酮明显低于正常。本文就本综合征诊治的有关问题进行讨论。     

Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome

Klinefelter syndrome is characterized by progressive testicular failure causing androgen deficiency and azoospermia in most patients. The aim of this study was to evaluate semen quality in consecutive patients with an additional X chromosome as compared with healthy males. Forty-seven males with non-mosaic 47,XXY ( n  = 40) or SRY-positive 46,XX male ( n  = 7) karyotypes aged 26.1 (range: 15.0–51.7) years participated. Semen quality was compared with 2136 (control group I) men from the general population aged 18.9 (17.9–28.6) years and with 349 fertile men (control group II) aged 30.9 (22.0–43.8) years. Semen volume adjusted for duration of abstinence was significantly smaller in the patients [2.0 (0.2–5.7) mL] when compared with control group I [3.1 (0.3–12.5) mL, p  < 0.0001] and group II [3.6 (0.6–12.5) mL, p  < 0.0001]. There was no difference in semen volume between 47,XXY and 46,XX males. All patients had azoospermia except two 47,XXY males aged 29 years who had sperm concentrations of 0.5 and 1.6 million/mL, respectively. We found significantly smaller semen volume in the patients when compared with controls, and the presence of motile spermatozoa in two out of 47 patients. The small semen volume supports the notion of 47,XXY patients being androgen insufficient despite serum testosterone levels within the normal range.     

Routine screening for classical azoospermia factor deletions of the Y chromosome in azoospermic patients with Klinefelter syndrome

Aim： To evaluate the occurrence of classical azoospermia factor （AZF） deletions of the Y chromosome as a routine examination in azoospermic subjects with Klinefelter syndrome （KS）. Methods： Blood samples were collected from 95 azoospermic subjects with KS （91 subjects had a 47,XXY karyotype and four subjects had a mosaic 47,XXY/46, XY karyotype） and a control group of 93 fertile men. The values of testosterone, follicle stimulating hormone （FSH） and luteinizing hormone （LH） were measured. To determine the presence of Y chromosome microdeletions, polymerase chain reaction （PCR） of five sequence-tagged site primers （sY84, sY 129, sY 134, sY254, sY255） spanning the AZF region, was performed on isolated genomic DNA. Results： Y chromosome microdeletions were not found in any of the 95 azoosperrnic subjects with KS. In addition, using similar conditions of PCR, no microdeletions were observed in the 93 fertile men evaluated. The level of FSH in KS subjects was higher than that in fertile men （38.2 ± 10.3 mIU/mL vs. 5.4 ±2.9 mIU/mL, P 〈 0.001） and the testosterone level was lower than that in the control group （1.7 ±0.3 ng/mL vs. 4.3 ± 1.3 ng/mL, P 〈 0.001）. Conclusion： Our data and review of the published literature suggest that classical AZF deletions might not play a role in predisposing genetic background for the phenotype of azoospermic KS subjects with a 47,XXY karyotype. In addition, routine screening for the classical AZF deletions might not be required for these subjects. Further studies including partial AZFc deletions （e.g. gr/gr or b2/b3） are necessary to establish other mechanism underlying severe spermatogenesis impairment in KS.     

A case of a rare variant of Klinefelter syndrome, 47,XY,i(X)(q10)

Klinefelter syndrome is a condition in which a male patient has one Y chromosome and one or more extra X chromosomes. It is the most common sex chromosome disorder. Klinefelter syndrome is distinguished by many clinical features, such as infertility, high gonadotropin and low testosterone levels, increased height, and sparse body and facial hair. We report the case of a 32‐year‐old man who visited our hospital complaining of male infertility. Semen analysis showed azoospermia, and chromosomal analysis revealed a 47,XY,i(X)(q10) karyotype, which is a rare variant of Klinefelter syndrome. No spermatozoon was found on microdissection testicular sperm extraction, and the testis biopsy histology showed only Sertoli cells and hyalinised seminiferous tubules. 47,XY, i(X)(q10) has an additional isochromosome made of the long arm of the X chromosome, which shares some features of classical Klinefelter syndrome in many aspects, but patients are usually shorter than average height and have normal intelligence. In addition, to the best of our knowledge, no successful sperm extractions from 47,XY, i(X)(q10) patients were reported in the literature. The reports of patients who have undergone microdissection testicular sperm extraction are very rare. Further reports and studies of this chromosomal abnormality are needed.     

1例嵌合型Klinefelter综合征患者细胞与分子遗传学研究

目的:观察嵌合型Klinefelter综合征的外周血染色体、Y染色体上SRY基因和AZF基因微缺失发生情况。方法:对1例嵌合型Klinefelter综合征患者及父母进行外周血染色体核型分析,确定9个实验用序列标签位点(STS),分别是:sY84、sY86、sY127、sY129、sY134、sY254、sY255、sY242、sY152,同时检测SRY基因,并以X/Y连锁锌指蛋白基因(ZFX/ZFY)为内对照进行多重PCR筛查AZF微缺失。结果:患者核型为46,XY/47,XXY/48,XXYY/49,XXXXY,其中48,XXYY占56%;47,XXY占30%;46,XY占12%;49,XXXXY占2%,患者父母核型正常;患者及父母SRY基因检测与染色体性别一致,患者检出Y染色体AZF微缺失,缺失位点为sY86和sY127,缺失类型为AZFa+AZFb缺失。结论:Klinefelter综合征患者存在Y染色体AZF微缺失,染色体核型分析和Y染色体AZF微缺失是Klinefelter综合征患者重要的遗传检测指标。     

Sperm retrieval from a male with the rare 47, XXYqs variant of Klinefelter syndrome for intracytoplasmic sperm injection: A case report

A 27-year-old man with nonobstructive azoospermia was diagnosed with Klinefelter syndrome (KS) with a satellite Y chromosome (47, XXYqs) by karyotyping. Genetic analysis revealed azoospermia factor c (AZFc) microdeletion of gr/gr deletion in the Y chromosome. Microdissection testicular sperm extraction (micro-TESE) was performed in bilateral testes. Very few seminiferous tubules were bilaterally observed, and a minute number of spermatozoa obtained from the left testis were cryopreserved. Histologic examination of the left testicular tissue revealed severe tubular atrophy with only Sertoli cells accompanied by Leydig cell hyperplasia. Oocyte harvest was conducted in his wife in two different cycles after ovarian stimulation, and intracytoplasmic sperm injection was performed for 24 oocytes (8 and 16 oocytes respectively) using thawed spermatozoa. Fertilisation was confirmed in total of 19 oocytes (79.2%), with 15 cleaved embryos (62.5%). Two cleavage-stage embryos were cryopreserved at day 2, but no blastocysts developed. Frozen–thawed embryo transfer was performed using two cleavage-stage (day 2) embryos; however, the wife did not conceive. In conclusion, spermatozoa were successfully obtained by micro-TESE from a patient with 47, XXYqs. Despite failure of conception, the fertilisation and cleavage rates were comparable or better than those reported in patients with “typical” KS.     

Poland综合征临床特点与治疗

目的 根据Poland综合征的临床特点,探讨其治疗策略.方法 对15例患者进行回顾性研究,将Poland综合征胸部畸形分为4类:轻度,女性;重度,女性;轻度,男性;重度,男性.分别行自身软组织填充或(和)硅凝胶乳房假体置入术.结果 随访6个月至4年,全部患者胸部外形对称,肌瓣全部成活,无假体包膜挛缩、移位,手术效果满意...     

A young male adolescent with feminine appearance: diagnosis of 46, XX syndrome neglected for 4 years with gynaecomastia presentation

Gynaecomastia is common in infancy and adolescent boys, but other inciting causes should be kept in mind and necessitate further evaluation should be conducted to determine any underlying conditions. A 22‐year‐old unmarried male adolescent visited our endocrinology clinic for feminine appearance despite operations for bilateral gynaecomastia 4 years ago. Physical examination showed inverted triangular distribution of pubic hair, sparse beard, small‐sized testes, flaccid short penis and surgical scar of the chest wall. Serum hormones study revealed primary hypergonadotropic hypogonadism, and cytogenetic study disclosed female complement (46, XX). The authors recommend that sexual chromosome abnormality should be considered in patients with hypogonadism to avert androgen deficiency‐related complications early and that long‐term team care should be provided to improve the patient's health‐related quality of life.     

15例47,XYY综合征患者的医学助孕研究及相关文献复习

目的总结47,XYY综合征患者的临床资料、辅助生殖结局及其子代遗传情况。方法回顾性分析从9 725个辅助生殖周期中筛查出的15例47,XYY综合征患者的一般临床特征、精液参数、妊娠结局、子代情况、子代核型及配偶情况。结果 15例患者中有4例无精子症(除1例配偶有甲亢病史外,其余3例配偶妇检无异常),其中2例睾丸穿刺未见精子,其他2例附睾穿刺可见精子,行ICSI处理;1例隐匿性精子症,1例不射精症,1例极重度少弱精子症,1例畸形精子症(配偶输卵管梗阻),1例轻度少弱精子症(配偶输卵管积水),2例轻度弱精子症(1例配偶多囊卵巢综合征,另1例配偶妇检无异常),治疗后行ICSI处理。4例精液正常的患者中1例考虑性取向有问题(配偶妇检无异常)行宫腔内人工授精(IUI)处理,其余3例(2例配偶有输卵管梗阻和卵巢功能不全,1例配偶妇检无异常)行IVF-ET和ICSI处理。15对夫妇共分娩7例活婴,4男3女,除1例失访外,其余核型均正常。结论 47,XYY综合征患者在接受辅助生殖助孕治疗时,其后代出现染色体异常的风险极低,可能是因为精子在受精或者胚胎形成之前会选择性地去除额外的Y染色体。     

肩峰下撞击综合征38例临床症状体征分析

目的 探讨判断肩峰下撞击综合征的严重程度,即肩袖是否撕裂的可靠的检查方法。方法 对 1999年 2月～ 10月间, 38例诊断为肩峰下撞击综合征的患者的临床资料进行总结。结果 对肩峰下撞击综合征的检查中,阳性率较高的有 :疼痛弧 33例 (阳性率 86.8％ ),大结节压痛 36例 (94.7％ ),前撞击征 33例 (86.8％ ),侧撞击征 36例 (94.7％ ), 60°～ 90°外展抗阻试验阳性 37例 (97.4％ ),牵拉试验阳性 35例 (92.1％）,冈上肌试验阳性 32例 (84.2％ ),封闭试验阳性 37例 (97.4％ )。 30°外展抗阻试验及夜间疼痛在肩袖撕裂与未撕裂患者间阳性率差异有显著性意义（ P 0.05)。结论 侧撞击征、 60°～ 90°外展抗阻试验、牵拉试验与封闭试验、大结节压痛、前撞击征、冈上肌试验及疼痛弧等对肩峰下撞击综合征的诊断有很高的阳性率。 30°外展抗阻试验及夜间疼痛在肩袖撕裂与未撕裂患者间阳性率差异有显著性意义 ,而力弱在肩袖撕裂与未撕裂患者间差异无显著性意义。