性表现型异常5例报告

性表现型异常５例报告湖南医学遗传学重点实验室伍汉文，夏家辉，李麓芸，戴和平，黄蕾，杨毅，陈胜湘，黄艳红关键词性分化障碍；性腺发育不全，４６ＸＹ；性反转综合征；性染色体异常；诊断；病例报告性表现型异常包括性畸形，性反转综合征和性腺发育不良等情况。本文通...     

46,XY单纯性腺发育不全的治疗(附2例报告)

目的 探讨46,XY单纯性腺发育不全病人的病因、临床表现及治疗方法 .方法 对2例染色体核型为46,XY单纯性腺发育不全病人的临床资料进行分析.结果 2例病人的生长和智力发育均正常,两臂与地平行伸展开两手中指的距离等于身高.原发闭经,青春期有女性第二性征发育,有阴毛、腋毛,乳房发育可.病人均有阴道, 行人工周期月经治疗有效.2例行腹腔探查术,术中均可见到发育不良的子宫、发育欠佳的输卵管、条索状性腺组织以及实性包块.手术切除包块及条索状性腺组织,病理诊断均为无性细胞瘤.结论 对生殖器官发育不良病人应常规行染色体检查;对46,XY单纯性腺发育不全病人应尽早切除性腺,通过性激素替代治疗提高病人生活质量.     

男性假两性畸形与性腺肿瘤的关系：—16例分析

男性假两性畸形与性腺肿瘤的关系──１６例分析中国福利会国际和平妇幼保健院周红荣，胡象莲男性假两性畸形属于性分化异常的少见疾病，其特征为女性体型，具有Ｙ染色体且含有一种男性性腺。这种性腺由于发育不全常有发生恶性肿瘤的可能。本院自１９８２年４月至１９９０...     

SRY基因突变和性腺肿瘤发生的研究

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全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。     

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     

180例性分化异常患者的临床和细胞遗传学分析

筛选性分化异常患者180例行细胞遗传学检查。结果检出：性腺发育不全64例；性染色体异常55例（检出率31％）。其中表型与核型不一致24例，包括睾丸女性化17例，性反转综合征7例；男性性染色体数目异常31例，包括先天性小睾丸征30例，XYY综合征1例；女性假两性畸形28例，尿道下裂22例，包括男性19例，女性3例。文章就各类型性分化异常的临床特征，性腺功能及细胞遗传学进行了讨论。     

45,XO/47,XYY嵌合体的临床与遗传学分析

本文分析了1例(45,XO/47,XYY)及文献中7例(5例 XO/XYY 和2例 XO/XY/XYY)的临床表现型及性腺组织学。8例均为性腺发育不全,女性表型,女性内生殖器伴身体矮小等 Turner躯体体征。在有完整资料的5例中,2例性幼稚,2例性幼稚伴男性化表现,1例女性性征发育伴轻度男性化。8例中6例发生性母细胞瘤。文内讨论了该类嵌合体的临床表现型与性腺组织学及肿瘤分泌不同性激素的关系,并强调了性腺肿瘤与 Y 染色体的关系及性腺发育不全者检查染色体核型的临床重要性,尤其是核型中有 Y 染色体时的性腺处理问题。     

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。     

46 XXp-1例报告

Ｔｕｒｎｅｒ综合征又称性腺发育不全，是女性性畸型中较常见的一种染色体病。其中，最常见的异常核型为４５，Ｘ。本文报道１例Ｘ短臂缺失的病例，文献中关于此异常核型的报道较少，故简述如下。患者岳某，１７岁，因原发性闭经来遗传咨询门诊就诊。患者表现型为女性，但...     

内分泌疾病与遗传

近年来,随着医学基础科学的发展和先进技术的应用,人们对遗传学的认识逐步深入。本文就内分泌疾病与遗传的关系作一简扼综述。性腺病与遗传有关的性腺病可分为染色体畸变和基因突变二类。临床上最常见的一类是性腺分化异常,现重点介绍其中先天性性腺(卵巢)发育不全综合征及先天性睾丸发育不全综合征。一、先天性性腺发育不全综合征(又称Turner氏综合征、性腺发育障碍):本病具有以下特点:1.表现型呈女性,青春期出现原发性闭经,第二性征缺乏,乳房不发育,内外生殖器呈幼女型,性腺往往呈痕迹状纤维索条;2.身材短小;3.有一个或多     

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.     

小儿两性畸形的外科干预

目的探讨两性畸形治疗中外科干预的相关问题。方法回顾1993年1月～2006年6月收治的26例两性畸形患者的病史及随访资料。26例中女性假两性畸形(FPH)4例,真两性畸形(TH)5例,男性假两性畸形者(MPH)16例,性腺发育不良伴苗勒氏管持续综合征1例。护养性别女性18例,男性8例。根据不同类型的两性畸形,26例患儿分别进行外科手术纠正外生殖器畸形。结果4例FPH患儿外生殖器保持女性外观,患儿与家长均满意;TH和MPH患者中术后男性者,均认可自己的性别,已完成外生殖器整形患儿的睾丸或阴茎不同程度小于同龄儿;2例MPH术后女性者患儿乳房发育较差。1例性腺发育不良伴苗勒氏管持续综合征患儿性别改为男性,随访发现左侧性腺为精原细胞瘤,行放疗及手术治疗。随访发现女性患儿的性格男性化,部分男性患儿的性格女性化。结论对于两性畸形患者的性别选择要综合考虑各方面因素,而外科干预必须在护养性别确定后进行,且应根据不同类型的畸形选择适宜的手术方式。     

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.     

Intersex and genital ambiguity

Normal sexual differentiation in males and females is described. Discussion of disorders of abnormal sexual development is confined to those producing genital ambiguity. Genital ambiguity is further subdivided into disorders of gonadal development and disorders of fetal endocrinology. Disorders of gonadal development with abnormal sex chromosome constitution include those with and without sexual ambiguity. Only those producing sexual ambiguity, true hermaphroditism and mixed gonadal dysgenesis are discussed further. Disorders of fetal endocrinology are divided into female and male pseudo hermaphroditism. The main features of each are highlighted. A practical method of management of patients with ambiguous genitalia then follows.     

A novel mutation in the SRY gene of a Chinese 46,XY female patient with unilateral mixed germ cell tumor

Objective To determine the nosogenetic factors of a 46,XY female with primary amenorrhea and unilateral mixed germ cell tumor.Methods Eight genes associated with 46,XY gonadal dysgenesis were detected in the patient and her parents by target region captured-next generation sequencing.Results An insertion of a single nucleotide(adenine) at the coding site 230(c.230_231insA) located in the high mobility group(HMG) domain of SRY was revealed,which led to a truncated protein(p.Lys77 fsX 27). This mutation was at position 2655414 of the Y chromosome, supported with 127 unique mapped reads, however, this mutation was not found in the in-house dataset of 1 092 controls. Additionally, none of the candidate gene was detected in the patient's parents, which indicated that it is a de novo mutation.Conclusion A novel SRY sporadic mutation due to a single nucleotide insertion at position 230(c.230_231insA) was identified as the cause of the disease in this patient.Target region captured-next generation sequencing was found to be an effective method for the molecular genetic testing of 46,XY complete gonadal dysgenesis(46,XY CGD).     

两性畸形的诊治（附52例报告）

目的：探讨小儿两性畸形的诊断和治疗。方法：总结1991年1月1日-2001年3月1日我院52例两性畸形患的临床资料，其中男性假两性畸形20例，女性假两性畸形14例，真两性畸形9例，46XX男性综合征4例，染色体性别异常(未能分类)3例和混合性腺发育不良2例。40例行性腺探查。结果：最终性别32例定为男性，20例定为女性。结论：对外阴模棱两可合并性腺未降的患儿应行性腺探查、活检，有阴道的性别定为男性应行阴道切除。     

先天性性腺发育不全征的细胞遗传学分析（附14例报告）

对５０例不孕，月经稀发，闭经患者进行细胞遗传学检查，发现先天性性腺发育不全症１４例占受检人数的２８％。核型三种类型，其中ｘ单体型７例，ｘ嵌合型３例，ｘ结构异常型４例。所有患者均有性腺发育不全这一共同特征。本文对各类型染色体异常与相关临床体征之间的关系进行探讨，将有助于染色体疾病的临床诊断和遗传效应的深入研究。并对月经失调与治疗问题进行讨论。     

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。     

138例闭经的细胞遗传学分析

本文对138例闭经患者进行了遗传咨询及外周血G显带染色体研究。其中发现核型异常的为51例,占37%。51例中有先天性卵巢发育不全49例,混合性腺发育不全2例。另外,138例中尚有11例为46,XY核型,占7.97%。