46,XY单纯性腺发育不全一例

患者12岁,社会性别女性,为足月顺产,其母孕期否认服用性激素类药物,出生时外生殖器为幼女型,按女性抚养。8个月前发现阴蒂增大,呈男性化表现,为进一步明确诊断收入院。查体:身高149cm,体重48kg,智力发育正常。上唇毛稍多,声音稍低,无腋毛,乳房TannerI级,双侧腹股沟未扪及肿块。阴毛少,外阴幼女型,阴蒂长约2.5cm,会阴体稍高,可见尿道口。阴道探入6cm,肛查盆腔中央可触及约2cm的始基子宫,无明显包块和性腺。实验室检查:血黄体生成素(LH)水平14.4IU/L(正常参考值:女性2.9～50IU/L,男性1.5～9.3IU/L);卵泡刺激素(FSH)44.6IU/L(女性3.0～…     

2例46,XX性发育睾丸疾病报道并文献复习

目的:探讨46,XX性发育睾丸疾病患者的表型、病因病机及其分子生物学特点。方法:对2例46,XX性发育睾丸疾病患者进行病史采集,盆腔B超扫描,染色体核型分析,PCR扩增法检测SRY、YRRM1、DYS240、DAZ基因。结果:两例患者均表现为小睾丸,无精子,第二性征较差。盆腔B超探查未发现女性内生殖器官。两患者染色体核型均为46,XX,且SRY(+),其中1例YRRM1(+)。结论:对性发育异常患者进行染色体核型分析和SRY基因检测,有利于了解该类患者的遗传学病因,为明确诊断和治疗提供科学依据。     

46,XX性发育异常基因诊断专家共识

<正>染色体核型为46, XX的性发育异常(disorders/differences of sex development, DSD)归类为46, XX DSD,主要分为雄激素过多、性腺发育异常和单纯生殖管道发育异常3大类。大多在出生后因外生殖器外观异常就诊,也有部分因青春期后的男性化或青春发育延迟就诊,约占所有DSD患者的35%^[1-2]。     

7例45,X/46,XY嵌合型性腺发育不全患者临床报告

<正>45,X/46,XY为性腺发育不全的一种疾病,其发生机制可能与Y染色体微缺失、Y染色体性别决定基因(SRY)或其他性别决定基因发生突变或调节异常有关,临床表现为从女性生殖器模糊到男性无精子症等一系列临床表型[1]。外周血染色体核型嵌合体细胞比例与临床表现之间无相关性,嵌合型45,X/46,XY在文献中很少报道患者具有生育能力[2-3],本文报道7例45,X/46,XY嵌合型性腺发育     

46,XY单纯性腺发育不全合并性腺肿瘤5例分析

目的探讨46,XY单纯性腺发育不全(PGD)合并性腺肿瘤的临床特点、诊断和治疗。方法北京协和医院妇产科2009年1月至2013年8月收治且行手术治疗的PGD病例16例,其中合并性腺肿瘤病例5例,对其临床病例资料进行回顾性分析。结果 PGD的性腺肿瘤发生率为31.2%(5/16),肿瘤类型为性腺母细胞瘤(1例)、精原细胞瘤合并性腺母细胞瘤(2例)、无性细胞瘤(1例)及绒毛膜上皮癌(1例),平均发现肿瘤年龄(16.0±2.9)岁(13~20岁),临床表现包括原发性闭经(4例),无阴腋毛、乳房不发育(2例),不同程度阴腋毛或乳房发育(3例),其中3例以性腺肿瘤为首要表现。4例血清卵泡刺激素(FSH)水平升高明显(范围44.7~161.9U/L),而肿瘤标记物包括甲胎蛋白(AFP)、糖链抗原125(CA125)、β-HCG水平正常。所有病例均手术切除双侧性腺:2例为初次手术后诊断为PGD,行再次手术切除条索性腺;1例术前诊断,肿瘤分期手术同时行双侧性腺切除;另2例行性腺切除时发现性腺肿瘤。结论 46,XY单纯性腺发育不全的性腺发生肿瘤风险高,一经诊断应尽早预防性手术切除双侧性腺;青少年女性生殖细胞肿瘤患者存在第二性征不发育或发育欠佳、原发闭经或FSH水平异常升高时,应及时进行染色体核型分析明确是否为PGD,以减少不必要的再次手术风险。     

部分型46,XY单纯性腺发育不全合并CFTR基因突变——病例报告与分析

目的对1例部分型46,XY单纯性腺发育不全合并CFTR基因错义突变(220CT、2563GA)患者进行报道。方法分析1例因阴蒂肥大就诊、并行性腺切除和阴蒂整形术治疗的12岁女孩临床资料,包括临床表现、性激素、染色体、超声和基因检查(AR、SRY和CFTR)资料。结果患者FSH 70.00U/L,HCG刺激实验阳性。超声检查未探及性腺及子宫,染色体核型为46,XY。AR和SRY基因检测未发现基因突变,但囊性纤维化跨膜传导调节因子(CFTR)基因检测发现220CT和2563GA两个突变位点,该基因突变可导致起囊性纤维化。腹腔镜下对患者行右侧性腺切除术(未探及左侧性腺),术后给予雌激素替代治疗,20个月后超声检查提示双子宫、双阴道畸形并开始出现撤退性出血。结论部分型46,XY单纯性腺发育不良合并2个CFTR基因位点突变目前尚未见报道,两者是否存在相关性需进一步研究。     

46,XY性发育疾病的分类和病因学研究进展

性发育疾病(disorders of sex development,DSD)是由X、Y染色体或常染色体遗传信息异常所致.2006年Lawson Wilkins儿科内分泌协会(Lawson Wilkins Pediatric Endocrine Society,LWPES)和欧洲儿科内分泌协会(European Society for Paediatric Endocrinology,ESPE)联合召开会议,对DSD做了长期的回顾性调查,建议将DSD分为性染色异常的DSD、46,XX DSD和46,XY DSD,并用46,XY DSD取代男性假两性畸形的名称.     

215例性发育异常疾病的分类比较研究

目的了解性发育异常疾病谱的变化,检验葛氏性发育异常疾病分类法的实用性和有效性。方法统计北京协和医院1996至2006年间性发育异常215例,根据葛氏性发育异常疾病分类法进行分类,并与1994年性发育异常疾病谱和性腺肿瘤发生率进行比较分析。结果215例性发育异常均能按葛氏性发育异常疾病分类法归人性染色体、性腺与性激素异常三大类;11年期间发生率较高的是性激素异常类性发育异常疾病。结论葛氏性发育异常疾病分类法是一种实用、简单、开放的分类法,并将随着对性发育异常疾病的认识而不断充实、发展。近年来性发育异常疾病的疾病谱和性腺肿瘤发生率也发生了一定的改变。     

罕见47,XX,del(Y)(q11.2)/46,XX嵌合型克氏征1例报告并文献复习

目的 探讨罕见47,XX,del(Y)(q11.2)/46,XX嵌合型克氏征的诊断和治疗经验.方法 我们报告1例27岁男性患者,因"婚后未避孕2年未育"就诊.3次离心后精液分析提示无精子症,我们进一步对患者的性激素、阴囊腹、盆腔超声、染色体核型及Y染色体微缺失进行了检查.结果(1)性激素、阴囊腹、盆腔超声、染色体核型及...     

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。     

Clinical and Genetic Analysis of an Infertile Male with 46,XX/46,XY Chimerism

The sex chromosome‐discordant chimerism 46,XX/46,XY is rarely found in humans with a phenotypically normal appearance, and this lack of phenotypic changes and the rarity of chimerism make it difficult to identify its exact incidence. Here, we report a case of this sex chromosome‐discordant chimerism diagnosed by cytogenic and molecular analyses of peripheral blood in a phenotypically normal male who was referred to our facility for infertility. Based on the karyotype, fluorescence in situ hybridisation (FISH) and short tandem repeat (STR) analyses, the type of this chimerism was determined to be tetragametic presenting four alleles at two loci on chromosomes 16 and 21.     

Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long‐term outcomes

Ovotesticular disorder of sexual differentiation (OTDSD) is a rare cause of disorder of sexual differentiation predominantly having 46,XX karyotype, female phenotype and ambiguous genitalia. We report a 15‐year‐old having male body habitus, axillary and pubic hair, well‐developed penis and right‐descended testis with history of penoscrotal hypospadias correction, presenting with three episodes of cyclical haematuria, who biochemically had normal serum testosterone (338 ng dl^?1) which increased following hCG stimulation (614 ng dl^?1), elevated estradiol (17.35 pg ml^?1) along with elevated luteinising hormone (11.3 mIU l^?1) and follicle‐stimulating hormone (31 mIU l^?1). Ultrasonography followed by micturating cystourethrogram and cystoscopy confirmed the presence of prostate, uterus, cervix and vagina draining into the urogenital sinus continuing till the penile urethra and left intra‐abdominal gonad. Patient underwent hysterectomy and left gonadectomy. Histopathologic study of resected gonad confirmed presence of ovotestis. Low estradiol (1.2 pg ml^?1) following gonadectomy confirmed the ovotestis origin of estradiol. Chromosomal analysis revealed complex karyotype predominant being 47,XYY (50%) followed by 46,XY (26%) and 45,X (24%). This is perhaps the first report of 47,XYY/46,XY/45,X causing OTDSD in a phenotypic male.     

推荐一种性发育异常的分类

鉴于生殖医学基础理论的发展，性发育异常原按真、假两性畸形分类已不足反映各种类型的性发育异常。作者根据性别发育过程，选择控制性别关键的性染色体、性腺、与性激素三大类，作为分类基础，在临床十余年间所遇４１７例１２类性发育异常均能归入这三大类中。本分类尚未包括某些少见病例。随分子生物学的发展将增加更多新的分类法     

Clinical and genetic analysis in males with 46,XX disorders of sex development: A reproductive centre experience of 144 cases

To explore the clinical features and assisted reproductive technology (ART) outcomes of 46,XX disorders of sex development (DSD) males, 144 males with 46,XX DSD were recruited in this retrospective study. The baseline information, clinical characteristics and ART outcomes of the participants were collected and analysed. The mean age was 29.06 ± 4.50 years. The mean volumes (95% CI) of left and right testicles were 2.16 (1.82–2.49) ml and 2.16 (1.83–2.49) ml, respectively. Cryptorchidism and/or hypospadias appeared in 19 patients (13.19%). Elevated levels of follicle‐stimulating hormone (FSH) were found in 136 patients (95.10%) and increased luteinising hormone (LH) values were detected in 125 patients (92.59%). Eighty subjects (62.99%) had low testosterone values. Among 86 patients with status of sex‐determining region Y (SRY)—gene and azoospermia factor (AZF) region available, fifteen (17.44%) patients were SRY‐negative and AZF region was absent in every patient without exception. Additionally, fertility achieved in 87 patients through ART using donor spermatozoa. In conclusion, hypergonadotropic hypogonadism appeared as the main presentation of 46,XX DSD males regardless of the SRY status. The available fertility option proved to achieve live birth was limited to ART using donor spermatozoa.     

Clinical aspects of 49 infertile males with 45,X/46,XY mosaicism karyotype: A case series

Disorders of sex development (DSD) are congenital abnormalities as an atypical development process in either gonadal or chromosomal structure. It is the cause of the abnormality in phenotype and characteristics. Chromosomal analysis plays an important role in the DSD determination. 45,X/46,XY mosaicism is a rare karyotype, and its prevalence is about 1.5 in 10,000 newborns. It affects the growth, hormonal balance, gonad development and histology. All data such as height, male general appearance, testis size and volume, external genitalia, spermogram and hormonal levels, testis pathology, Y chromosome microdeletion and karyotype, and assisted reproductive technology (ART) outcome were recorded based on patients profile and history. We investigated 64 infertile males with 45,X/46,XY mosaicism. Fifteen cases who had structural abnormalities in Y chromosome were excluded. From 49 available spermogram, 21 cases reported as azoospermic men, while 28 of them classified as nonazoospermic patients in which four of them displayed normal spermogram. According to hormonal evaluation, there were no significant differences between azoospermic and nonazoospermic groups. In azoospermia, only three couples underwent an ART cycle in which all of them failed. From 14 nonazoospermic cases who entered into the ART cycle, three cases experienced a successful pregnancy that one of the prosperous outcomes was twins. In 45,X/46,XY cases, both 45,X and 46,XY cell lines are seen. Various distributions of both cell lines can reflect a wide range of phenotypes that may be the most comprehensive evaluation in infertile males with 45,X/46,XY karyotype. It assumes that karyotyping as a main diagnostic test can enable us to find these rare cases.     

Synchronous Bilateral Breast Carcinoma in a 50-Year-Old Man with 45,X/46,XY Mosaic Karyotype: Report of a Case

We report a case of synchronous bilateral breast cancer in a patient with ambiguous external genitalia attributed to a 45,X/46,XY mosaicism. To our knowledge, this represents the first such case ever to be reported. Mammography, ultrasonography, computed tomography, and magnetic resonance imaging all showed bilateral suspicious breast masses with microcalcifications. There were no radiological findings of muscle invasion or axillary lymphadenopathy. The patient was successfully treated by bilateral radical modified mastectomy followed by external irradiation and adjuvant endocrine therapy. Histological examination revealed a bilateral ductal carcinoma in situ, with a cribriform and papillary pattern and microfoci of infiltrating ductal carcinoma. The hormonal profile revealed high levels of follicle-stimulating hormone and luteinizing hormone, and low levels of testosterone. Testicular sonography revealed small hypoechoic testicles with bilateral microlithiasis. This case shows that 45,X/46,XY men may have an increased risk of breast cancer and must be followed up carefully.