46,XY单纯性性腺发育不全的临床分析

 目的 探讨染色体核型为46,XY单纯性性腺发育不全患者(合并或不合并卵巢肿瘤)的诊断和治疗。方法 分析1991年7月至2011年8月我院收治的6例染色体核型为46,XY单纯性性腺发育不全病例。所有病例均行剖腹探查术或腹腔镜手术。结果 所有患者的临床表现为原发闭经或继发闭经;乳房不发育或发育欠佳;阴毛、腋毛无或稀少;内外生殖器幼稚,有输卵管、卵巢、子宫及阴道。实验室检查FSH,LH均明显高于正常水平;染色体检查为46,XY。手术切除双侧性腺,病理提示6名患者中有4例发生卵巢肿瘤,肿瘤发生率高达66.7%。结论 及时确诊46,XY单纯性性腺发育不全十分重要,确诊后需立即切除双侧性腺以避免肿瘤的发生。     

40例原发闭经患者染色体分析

对40例原发闭经患者作染色体分析,结果染色体正常者26例(65%)、异常者14例(35%)。异常者中6例属于先天性性腺发育不全,核型为45,X及其嵌合体;3例为45,X/46,XY型性腺发育异常(其中2例的Y染色体有变异):3例为睾丸女性化,核型为46,XY,2例为XY型单纯性腺发育不全,核型为46,XY。     

46,XY性腺发育不全合并精原细胞瘤1例

<正>46,XY单纯性腺发育不全为临床较少见的一种性腺发育异常,1995年由Swyer提出[1],故又被称为Swyer综合征。该类患者染色体核型为46,XY,但生殖器分化发育为女性方向发展。46,XY单纯性腺发育不全发生率约为1/100 000,故临床常对其认识不足,进而出现误诊误治。我院于2013年9月收治1例该病患者,现报告如下。1病例资料患者,女性,19岁,学生,未婚,有性生活史。患者系"19岁     

具Y染色体“女性”患者性腺切除的时机

目的 探讨具Y染色体“女性”患者性腺切除时机的选择。方法 分析50例具有Y染色体“女性”患者的临床资料。结果 按染色体、性腺及性激素分为三组：①XY单纯性腺发育不全14例；②XO/XY性腺发育不全8例；③雄激素不敏感综合征28例。结论 具Y染色体“女性”患者易发生性腺肿瘤，当诊断明确后，为预防性腺恶变，宜行性腺切除，手术时机及方式应根据病种、社会及心理性别、男性化表型程度等决定。     

大Y染色体的细胞遗传学研究及其临床效应分析

目的: 探讨大Y染色体与不良妊娠、性腺发育不全和性反转综合征等临床效应的相关性。方法: 采用外周血淋巴细胞培养、常规染色体标本制备和G显带技术,对患者进行核型分析。结果: 在检出的9例大Y染色体患者中,5例其妻有不良妊娠史(包括自然流产、胚胎停止发育、死胎等),3例性腺发育不全,1例46,XY男性性反转综合征。结论: 大Y染色体与不良妊娠、性腺发育不全和性反转综合征等临床效应有一定的相关性。     

核型为45,X/46,XY的Turner综合征六例分析

目的 总结6例女性表型,染色体核型为45,X/46,XY的Turner综合征患儿的临床特征,探讨合理的治疗方案.方法 选取2008年7月至2014年7月在中山大学孙逸仙纪念医院儿科就诊的6例45,X/46,XY的Turner综合征患儿,社会性别均为女性.分析患儿的临床表现,检测性激素水平并行性腺B超、性腺病理活检.结果 6例患儿均有身材矮小.5例患儿表现为幼稚外阴,乳房不发育,阴毛无或稀少.5例卵泡刺激素(FSH)、黄体生成素(LH)高于正常水平,FSH为(36.05~110.78)IU/L,LH为(11~48.01)IU/L.6例B超示未见子宫或始基子宫、双侧卵巢显示不清.6例均行腹腔镜下双侧性腺切除术,2例病理示发现性腺母细胞瘤.术后4例行激素替代治疗,3例行重组人生长激素治疗.结论 45,X/46,XY的Turner综合征患儿常伴有身材矮小,应用重组人生长激素(rhGH)可改善身高.切除发育不良的性腺组织,可降低发生生殖细胞肿瘤的风险.     

家族性46，XY单纯性腺发育不全1例

1 病例摘要 46,XY单纯性腺发育不全(46,XY pure gonadal dysgenesis,46,XY PGD)是一种少见的性分化异常病,家族性46,XY PGD更为罕见.我们遇到一家庭三姐妹同患46,XY PGD病例. 先证者,社会性别女,22岁,以原发闭经伴身高不断增长就诊.患者就诊前一直未有月经来潮,而且近2年身高仍以每年2～3 cm的速度增长.曾在当地行人工月经周期治疗6个月,未有月经来潮,但阴道有少许粉红色分泌物出现.查体:女性外貌,血压120/70 mmHg,身高170 cm,体重55 kg,智力正常.皮肤无黑痣,头发浓密,发际不低.五官正常,甲状腺不大,乳房发育差,心肺正常,肝脾不大.双肘轻度外翻,无指趾畸形.外阴呈女性幼稚型,阴蒂肥大,无腋毛、阴毛,右侧腹股沟处可触及约5 cm×2.5 cm大小的包块.实验室检查:血常规、肝肾功能及血生化指标均正常.内分泌激素测定:FT3、FT4、TSH和GH均正常.FSH 79.7 IU/L,LH 68.2 IU/L,E2 47 pg/mL,T 43.9 ng/mL.染色体检查:核型为46,XY.妇科B超检查:盆腔内探及始基子宫及左侧条索状附件回声,右侧腹股沟区探及4.5 cm×2.2 cm杂乱回声团.患者家庭中另外两姐妹均有相似表现,其中姐姐26岁,已结婚3年,性生活困难,仍未育.妹妹16岁,至今未有月经来潮.二人经染色体检查核型也为46,XY.父母非近亲结婚,双方家族均无类似患者.诊断明确后建议三姐妹手术治疗,因经济原因遭拒绝.     

单纯性XY性腺发育不全

本文报道5例单纯性性晚发育不全(Swyer综合征)。基因型为46,XY,表现型为女性伴性腺发育不全。3例为家族性,2例为散发性。临床特征为女性表现型,原发闭经,无青春期变化。所有患者均有幼稚子宫、正常输卵管、条索状性腺和女性外生殖器。2例有性母细胞瘤。讨论了发病机理、性腺肿瘤和处理等问题。     

腹腔镜治疗XO/XY性腺发育异常1例及文献复习

XO/XY混合性腺发育不全是性发育异常中染色体异常的一种,其性染色体核型为45,X/46,XY,临床较少见.我院遇见1例,结合文献报告如下.     

XY单纯性性腺发育不全并性腺母细胞瘤及无性细胞瘤一例

患者 ,19岁 ,社会性别 ,女性。因阴蒂肥大、乳房发育欠佳入院 ,无月经来潮 ,体格健壮 ,语音粗钝 ,性格如男孩 ,口周有少许胡须。查体 :身高 171ｃｍ ,体重 5 2ｋｇ ,皮下脂肪少 ,双乳房发育不良 ,乳晕稍淡 ,两侧腹股沟及大阴唇未扪及包块。阴毛倒三角形 ,阴蒂肥大长 3.0ｃｍ左右 ,处女膜完整 ,肛检未扪及宫颈宫体 ,可扪及条索状组织 ,右附件区可及 3.0ｃｍ× 3.0ｃｍ大小肿块。染色体检查为 46 ,ＸＹ ,睾酮升高 ,雌激素下降。Ｂ超示子宫幼稚 ,右附件混合性包块。诊断为ＸＹ单纯性性腺发育不全。在连续硬膜外麻醉下剖腹探查 ,见子宫幼稚 ,右…     

The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis

Objective To clarify the role of sexual related Y (SRY) gene detection in the diagnosis of gonadal dysgenesis.Methods Sixteen cases of gonadal dysgenesis were included in this study: 5 with androgen insensitivity syndrome, 1 with 17-α-hydroxylase deficiency, 4 with true herm aphrodite, 2 with 45,X/46,XY gonadal dysgenesis, 1 with 45,X gonadal dysgenesis, 1 with XY pure gonadal dysgenesis, 1 with testicular regression, and 1 XY fema le who gave birth to a normal baby. SRY gene was detected by using polymerase c hain reaction (PCR) in blood and gonad samples and by direct sequencing of the S RY motif. Results Among the 16 cases, 15 were blood SRY positive, among which 13 (86.7%) showed t he presence of testicular tissue, and 2 showed ovaries without testicular tissue . One SRY negative case showed the presence of testicular tissue. In 3 cases, SRY detection in gonadal tissue correlated with pathological findings but not wi th blood karyotype. The correlation between peripheral blood SRY and the pathol ogy of the gonads was 81.25% and the correlation between the presence of periph eral blood Y chromosome and pathology of the gonads was 68.75%. Sequencing of the SRY motif in an XY female who gave birth to a normal baby showed no mutatio n.Conclusions SRY detection is more sensitive and specific than blood karyotype in the predic tion of the presence of testicular tissue. Peripheral blood karyotype does not necessarily reflect gonadal type. There may be testicular related factors other than the SRY gene.     

VIRUS lSOLATION AND IDENTIFICATION IN CERVICAL CANCE,R PATIENTS

162 patients with menstrual dysfunction and genital anomalies underwent laparoscopy for assess- ment of gonadal function. Eight different morpho- logic types of gonads were observed; normal sized ovary with normal appearance, streak gonad, small ovary, atrophic ovary, sclerocystic ovary, ovotestis, mixed gonads, and gonadal tumor. Biopsies were obtained in 64, chromosomal analysis in 71, LH and FSH determinations in 151, and PRL in 32. Charac teristic appearances and pathologic pictures were described. Correlation of clinical diagnosis with the type of gonads, biopsy results, karyotype and LH and FSH determinations was made. LH and FSH values were high in cases of streak gonads and atrophic ovaries. Laparoscopy plays a supplementary but important role in the assessment of gonadal function.     

PATHOLOGICAL CHARACTERISTICS OF GONADS IN NINE PATIENTS WITH TRUE HERMAPHRODITISM

The gonadal histopathology, and its correlation with the clinical features has been investigated in 9 true hermaphroditism patients, aged 5-21 yr. Seven of 9 patients had been raised as females, of which the chromosomal karyotype was 46XX in 5 cases, 46XX/46XY and 46XX/47XXY in 2 cases. Two of 9 patients were raised as males, the chromosomal karyotypes being 46XX and 46XX/46XY. All 9 patients had testieular tissue excised, and biopsies of the conserved ovaxian tissue were performed. Ovotestis was the most common form of the abnormal gonads; two of 9 patients had bilateral ovotestes, seven had unilsteral ovotestes (5 in right side, 2 in left side). In seven patients with a unilateral ovotestis, 6 had a contralateral ovary and one had a contralateral testis. Microscopically, the ovarian tissue of 11 ovotestes, including 6 biopsies from contealateral ovaris, were normal, with many primordal follicles and a few growing follicles.In two of the patients, aged over 15 years, evidence of ovulation was observed. In comparison, the testicular tissue of the ovotestis and the one left inguinal testis was histologically abnormal, with immature seminiferous tubbers, most of which filled with Sertoli cells only, Three of 9 patients married after surgical treatment. Two of these subsequently conceived and delivered of normal infants by cesarean section.     

Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis

Although the occurrence of pure gonadal dysgenesis PGD is usually sporadic and nonfamilial, here we present 3 sisters with 46, XX PGD, who are born from a first cousin marriage. Review of their family pedigree is compatible with autosomal recessive inheritance. Surprisingly, 2 of these sisters developed ovarian tumors. Both showed the pathological result of dysgerminoma with syncytiotrophoblastic giant cells. These 2 cases are examples of tumorigenesis in PGD without an identifiable Y chromosome. Therefore, malignant degeneration of the streak gonads should be considered in the patients with 46, XX PGD.     

Twin dilivery of a 46,XY gonadal dysgenetic woman following vitrified oocytes donation

A 46,XY gonadal dysgenetic woman gave birth to two healthy girls following vitrified oocytes donation. The loss of SRY gene was considered as the cause of this patient. Although similar cases have been reported about pregnancies of 46,XY pure gonadal dysgenetic women, successful delivery from vitrified oocytes has been hardly reported yet. Oocytes vitrification technique provides a beneficial way by saving superfluous oocytes from the pregnancy patients to these women who need.

     

Twin delivery of a 46,XY gonadal dysgenetic woman following vitrified oocytes donation

A 46,XY gonadal dysgenetic woman gave birth to two healthy girls following vitrified oocytes donation. The loss of SRY gene was considered as the cause of this patient. Although similar cases have been reported about pregnancies of 46,XY pure gonadal dysgenetic women, successful delivery from vitrified oocytes has been hardly reported yet. Oocytes vitrification technique provides a beneficial way by saving superfluous oocytes from the pregnancy patients to these women who need.     

Mixed gonadal dysgenesis. Report of 11 cases

Eleven cases of Mixed Gonadal Dysgenesis are reported. The disease is characterized by gonadal asymmetry, as well as retained Mullerian duct structures. These individuals exhibit varying degrees of masculinization of the external genitalia, the spectrum of phenotypic expression extending from the normal male to the normal female. 45,/46, XY is the typical karyotype. The etiology, the role of H-Y antigen, pathogenesis and management are discussed. The risk of neoplastic transformation in gonads is a significant threat and must be considered at all the stages of management.     

SRY基因突变和性腺肿瘤发生的研究Ⅰ．家族性46，XY女性SRY基因检测

近年证明ＳＲＹ男性性基因是性别决定关键。ＳＲＹ突变能引起男性性异常。４６，ＸＹ性腺发育不全（或ＸＹ女性）系ＳＲＹ基因突变所致，并有高发性腺肿瘤特点。ＳＲＹ突变有多种类型；本研究检测一家庭集聚性ＸＹ女性高发肿瘤成员有个ＳＲＹ基因缺失。结合细胞遗传学和病理学检查结果，对ＸＹ女性性腺癌变机理提出了推测。