卵睾型性发育异常的临床特征分析

目的探讨卵睾型性发育异常临床特点。方法回顾性分析60例2007年1月至2017年12月因卵睾型性发育异常于首都医科大学附属北京儿童医院泌尿外科住院治疗患儿的临床资料,并对卵睾型性发育异常的临床特征进行归纳总结。结果60例中社会性别男42例,社会性别女18例;多以外生殖器异常就诊。46,XX DSD 52例;46,XY DSD 3例;性染色体DSD 5例。48例术前行盆腔及性腺超声检查,其中32例子宫发育欠佳,22例见阴道。60例均行性腺活检,性腺总数120个,其中卵睾74个,睾丸16个,卵巢30个。双侧型19例,单侧型36例,片侧型5例。33例行手术干预,其中按男性抚养者22例,均行阴茎矫直术和尿道重建术;按女性抚养者11例,均完成阴蒂矫形术。结论卵睾型DSD临床表现多样,容易漏诊,需提高警惕。如何进行性别、手术时机的选择目前仍然存在很大争议。     

74例46,XX性发育异常患儿性腺探查结果及分析

目的 分析总结我院46,XX性发育异常患儿性腺探查结果并分析.方法 回顾性分析2006年1月至2015年12月期间就诊我科染色体核型为46,XX的性发育异常患儿98例,其中24例因内分泌科明确诊断CAH无需行性腺探查.另74例46,XX DSD为明确诊断行手术探查性腺,并取病理活检.根据术中探查所见内生殖器分布情况以及术后患儿的病理结果汇报归纳总结74例46,XX患儿性腺探查情况并分析.结果 除CAH外余74例46,XX DSD患儿中社会性别为:男48例,女26例.为明确诊断均行性腺探查术.其中单纯腹腔镜手术49例,腹腔镜联合开放手术12例,开放手术13例.性腺探查病理结果如下:双侧性腺均为卵睾25例(33.78％);一侧性腺为卵巢,一侧为睾丸13例(17.57％);一侧卵睾,一侧睾丸12例(16.22％);一侧卵睾,一侧卵巢18例(24.32％);双侧均为原始性腺2例(2.7％);一侧原始性腺,一侧卵巢2例(2.7％);一侧原始性腺,一侧睾丸2例(2.7％).31例含有卵巢性腺患儿中14例卵巢分布在左侧,占45.16％.25例含有睾丸性腺的患儿中11例睾丸位于右侧,占44％.结论 性腺探查及病理活检是46,XX DSD中除CAH外明确性发育障碍患儿的诊断及治疗方案重要的评估手段,对早期明确诊断、合理的选择性别及手术重建治疗具有重要的意义.     

106例性别发育异常患儿性腺病理学特征及其临床意义的初步探讨

目的总结分析性发育异常(disorders of sex cdevelopmemt,DSD)患儿性腺的病理学特点及其临床意义。方法收集2010年8月至2018年1月间于浙江大学医学院附属儿童医院就诊并获取性腺病理学检查结果的DSD患儿临床资料,同时根据染色体结果分成性染色体DSD组、46,XX DSD组、46,XY DSD组共3组进行对比分析。结果共有106例DSD患儿获得性腺病理检查结果,肿瘤发生率为1. 8%。3组间EMS评分无统计学差异。性染色体DSD组21例,其中卵睾型DSD 10例(47.6%)、原始性腺7例(33.3%)、发育不良卵巢1例(4.8%)、发育不良睾丸3例(14.3%)。46,XX DSD组25例,其中卵睾型DSD 11例(44%)、原始性腺3例(12%)、发育不良卵巢9例(36%)、发育不良睾丸2例(8%)。46,XY DSD组60例,其中卵睾DSD 2例(3.3%)、原始性腺7例(11.7%)、发育不良卵巢5例(8.3%)、发育不良睾丸44例(73.3%)、性腺母细胞瘤2例(3.3%)。不同DSD染色体分型中各种病理类型的构成比存在统计学差异(P0.05)。结论对于诊断结果尚不明确、需要接受性腺病理检查的DSD患儿,EMS得分及性腺病理结果与染色体核型不存在较为明显的对应关系。性腺病理检查仍是DSD诊断及治疗的重要评估手段,这对DSD患儿的个体化处理具有重要意义。此外,性腺发生恶变的机率较小。     

病因不明性发育异常患儿153例临床及身高状况分析

目的 分析病因不明性发育异常（DSD）患儿的类型分布、临床特征及身高情况。方法 选取病因不明DSD患儿，采集临床资料，检查骨龄、染色体，行性腺、盆腔及腹部B超检查，HCG试验，评估DSD的临床类型，评价身高发育状况。结果 153例病因不明DSD患儿纳入分析，其中初诊时社会性别男128例，女25例，平均年龄（4.6±4.2）岁（42 d至16岁10个月），3岁前就诊者87例（56.9%）。有DSD家族史者15例（9.8%）。母亲孕期使用孕酮类保胎药19例（12.4%）。①134例行染色体检查，其中46，XY DSD 121例（90.3%），46，XX DSD 3例（2.2%），性染色体异常DSD 10例（7.5%）。121例46，XY DSD 中，主要为小阴茎合并尿道下裂39例（32.2%），小阴茎合并睾丸异常19例（15.7%），单纯小阴茎18例（14.9%）。②46，XY DSD患儿中身高小于2005年中国2～18岁儿童青少年身高百分位数值表（简称身高数值表）P25者46例（38.0%），与正常儿童比较差异有统计学意义（P=0.039）；身高小于身高数值表P50者76例（62.8%）。10例性染色体异常DSD患儿中，身高小于身高数值表P25者5例。③卵巢/睾丸发育异常（双向性腺）DSD患儿8例，其中46，XY 3例，46，XX 2例，嵌合染色体3例。身高小于身高数值表P25和P50者分别有5例（62.5%）和7例（87.5%）。 ④125例进行了HCG激发试验，其中HCG标准试验反应良好78例，HCG延长试验反应良好14例，HCG试验反应不良33例，3组身高小于身高数值表P50者分别为31例（39.7%）、11例（78.6%）和27例（81.8%），差异有统计学意义（P=0.000）。结论 本组病因不明DSD患儿以46，XY DSD为主。46，XY DSD患儿以各类小阴茎表现最多见。DSD家族史和母孕期服用保胎药可能是DSD的原因之一。DSD患儿身高小于身高数值表P25及P50的比例高于正常儿童。DSD患儿的身高与睾丸发育状况、HCG反应有明显关系，提示DSD患儿的身高受损与睾酮产生能力有关。     

46,XY性别发育异常儿童的病例分析

目的 探讨儿童46,XY性别发育异常诊疗策略.方法 回顾性分析2011年9月至2016年3月我院诊断为46,XY DSD的79例患儿的临床资料,包括一般情况、实验室检查、影像学检查、病理结果及部分基因检测结果,总结其临床特点.79例患儿中社会性别男73例(92.4％),女6例(7.6％),平均年龄3岁.外生殖器完全女性化2例,完全男性生殖器4例,模糊外生殖器73例.79例患儿行染色体检查检查结果均为46,XY,SRY阳性.结果 17例行腹腔镜或开放性腺活检取病理,18例行HCG刺激试验,7例行性别发育基因筛查.其中部分性腺发育不良4例;混合性腺发育不良1例;睾酮合成障碍2例;雄激素不敏感3例;Kallmann综合征1例;5α还原酶缺乏1例;睾丸消失综合征7例;苗勒管永存综合征4例;阴囊及会阴型尿道下裂56例.结论 46,XY DSD病因复杂多样,正确的诊断和治疗对患儿身心健康极为重要,刺激实验、性腺探查活检、基因检测有助于明确诊断.     

165例儿童性发育异常疾病的临床、遗传学与病理学分析北大核心CSCD

目的探讨性发育异常疾病(disorders of sex development,DSD)患儿的临床表型、遗传特点和病理学特征。方法回顾性分析2008年8月—2022年12月河北省儿童医院和唐山市妇幼保健院收治的165例DSD住院患儿的流行病学、临床表型、染色体核型、性腺病理及基因检测等资料。结果165例DSD患儿中,首诊原因以矮小(62/165,37.6%)、阴蒂肥大(33/165,20.0%)、隐睾(28/165,17.0%)、尿道下裂(24/165,14.5%)、皮肤黑和/外阴色素沉着(19/165,11.5%)较常见。127例进行了染色体核型分析,结果显示36例(28.3%)为46,XX DSD,34例(26.8%)为46,XY DSD,57例(44.9%)为性染色体异常。在性染色体异常核型中,以45,X核型(11/57,19%)和45,X伴其他核型嵌合(36/57,63%)多见。16例进行了性腺组织病理学活检,获得25份性腺组织。性腺组织活检显示3份为睾丸,3份为发育不良睾丸,6份为卵巢,11份为卵睾,条索状性腺和性腺缺如各1份。基因检测显示23例(23/36,64%)携带致病性/可能致病性变异,其中12例为CYP21A2基因致病变异导致的21-羟化酶缺乏性先天性肾上腺皮质增生症。结论矮小、阴蒂肥大、隐睾、尿道下裂、皮肤色素沉着为DSD患儿的常见表型;45,X伴其他核型嵌合和CYP21A2基因复合杂合变异是DSD患儿的主要病因;患儿性腺活检以卵睾、卵巢和睾丸/发育不良睾丸常见。     

41例46,XY性别发育异常临床诊治及基因筛查结果分析

目的探讨儿童46,XY性别发育异常的诊疗策略,并总结其诊疗经验。方法回顾性分析41例2011年9月至2018年11月于中国医科大学附属盛京医院确诊为46,XY DSD患儿的临床表现、实验室及影像学检查结果、基因检测结果和病理结果等资料,并总结其临床特征。结果41例中社会性别男28例(68.3%),女13例(31.7%),初诊年龄3个月至15岁。外生殖器完全女性化3例,外生殖器明显男性化17例,外生殖器模糊21例。染色体检查结果均为46,XY,且SRY基因阳性。35例行HCG激发试验,23例行性别发育相关基因筛查,8例行组织学检查。其中性腺发育异常17例,雄激素合成或作用缺陷16例,苗勒氏管永存综合征6例,Kallmann综合征2例。6例接受性腺切除术,10例接受外生殖器整形术,11例接受睾丸固定术,2例接受性别重新认定,10例未进行性别选择,其余29例维持原来社会性别。结论46,XY DSD患儿临床表现个体间差异较大,除性腺发育异常及睾丸消失综合征外,其余患儿最终需要结合基因检测结果以明确诊断。性别选择是46,XY DSD治疗的关键,需要全面评估后进行慎重选择。对于睾丸功能良好的患儿,最好让患儿自己参与性别的选择,尽量避免不可逆的性腺切除及外生殖器手术。     

儿童真两性畸形诊断与治疗:附9例报告

目的 探讨儿童真两性畸形的诊断、合理的性别选择及恰当的治疗方式。方法 回顾性分析1994年至2002年9例儿童真两性畸性的临床资料。结果 社会性别：男6例，女3例；染色体组型：46XX4例，46XY1例，45XO1例，45XO／46XY嵌合型3例。性腺畸形为：双侧型2例，单侧型3例，片侧型4例。按男性抚育者，行卵巢组织及子宫附件切除，睾丸固定，同期或二期尿道下裂修复；按女性抚育者，切除睾丸组织或卵睾，同期行阴蒂会阴成形术。近期2例用腹腔镜行盆腔探查和性腺切除。5例获得6个月～3年的随访。结论 早期诊断、根据外生殖器及性腺优势作出合理的性别选择至关重要，儿童期应完成对与确定性别相抵触性腺的切除和外生殖器矫形，腹腔镜在诊断与治疗上有很好的价值。     

儿童真两性畸形的诊断与外科处理探讨

目的探讨儿童真两性畸形的诊断与外科处理方法。方法回顾性分析2004年至2007年本院收治的9例儿童真两性畸形患儿病例资料。结果社会性别：男4例，女5例。染色体组型：46XX4例，46XY3例，45X01例，46XX／XY1例。性腺畸形：双侧型4例，单侧型2例，片侧型3例。4例选定作男性抚育者，于腹腔镜下切除卵巢组织及子宫附件，行隐睾下降固定，同期或二期行尿道成形术；5例选定作女性抚育者，于腹腔镜下切除睾丸组织或卵睾，同期行阴蒂成形术。所有患儿均无明显术后并发症，效果良好。结论早期诊断、早期治疗及综合判定，做出合理盼陛别选择对于儿童真两性畸形的诊治意义重大；外科处理应选择适宜的手术方式；腹腔镜在诊断与外科处理中可替代剖腹探查。     

46,XY性别发育异常的性腺处理

性分化异常是指先天性染色体、性腺和表型性别的发育异常或不匹配。根据芝加哥会议分型,46,XY DSD是病因最复杂的一类性分化异常。目前46,XY DSD患者的性腺处理仍存在一定争议。本文通过文献复习结合笔者临床经验,从性腺活检及探查、性腺恶变风险、性腺随访策略、性腺切除时机及指征等方面讨论46,XY DSD的性腺处理。     

The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does “disorders of sexual development (DSD)” classification based on new Chicago consensus cover all sex chromosome DSD?

Clinical findings illustrate the wide spectrum of the phenotypic manifestations of 45,X/46,XY mosaicism in the sex chromosome disorders of sex differentiation (DSD). The objective of study is to evaluate the characteristics of 45,X/46,XY patients and questioning of their place within the DSD categorization. The clinical findings of 11 patients with 45,X/46,XY mosaicism are described including the presentation, gonadal morphology, genital anatomy, and the hormone levels among 285 patients with DSD evaluated. Sixty-seven patients were diagnosed with sex chromosome DSD (50 Turner, three Klinefelter, ten 45,X/46,XY gonadal disgenesis, one 45X/46,XY ovotesticular DSD, one 47,XYY ovotesticular DSD, and two 46,XX/46,XY ovotesticular DSD). The type and the percentage of patients with 45,X/46,XY mosaicism were as follows: Four cases of mix gonadal dysgenesis, four cases of partial gonadal dysgenesis, two cases of complete gonadal dysgenesis, one case of ovotesticular DSD. On the other hand, another patient that has 45,X/46,XX mosaicism was diagnosed with MGD with the presence of the streak gonad on the right side and the testis on the other side. Conclusion: We suggest that sex chromosome DSD categorization can include 45,X/46,XY PGD and 45,X/46,XY CGD. Mixed gonadal dysgenesis may be also placed among the disorders of testicular differentiation of 46,XY DSD subdivision.     

Impact of laparoscopy for diagnosis and treatment in patients with disorders of sex development

ObjectiveTo review laparoscopy in patients with disorders of sex development (DSD) in order to clarify its usefulness in diagnosis, devising subsequent therapeutic strategies and managing patients with various conditions.Patients and methodsBetween April 1992 and December 2012, 29 laparoscopic surgeries were performed in 25 DSD patients. Among them, ten were diagnostic laparoscopy including gonadal biopsy, and 19 were therapeutic laparoscopy. Surgical procedures and complications were evaluated.ResultsFor diagnostic laparoscopy, laparoscopic gonadal biopsy was performed in three patients. Inspection, with or without open gonadal biopsy, was performed on four out of seven patients with 46XY DSD or mixed gonadal dysgenesis (MGD). Additional surgery was planned and performed based on diagnostic laparoscopic findings in six out of seven patients. In the three patients with ovotesticular DSD, the gonadal pathology was diagnosed as: testis/ovary in one, testis/ovotestis in one and ovary/ovotestis in one – this was from the laparoscopic inspection and/or gonadal biopsy. However, the final diagnoses were bilateral ovotestis in two patients and ovary/ovotestis in one patient.For therapeutic laparoscopy, surgical procedures were: gonadectomy in 17 patients (bilateral in 13, unilateral in three, partial in two); hysterectomy in two patients; orchiopexy in one; and sigmoid vaginoplasty in one patient (included multiple procedures). There were no severe perioperative complications. In the four patients with a history of diagnostic laparoscopy, no severe intra-abdominal adhesions that would disturb therapeutic laparoscopic surgery were observed.ConclusionWhile diagnostic laparoscopy was helpful in devising a therapeutic surgical strategy in most of the patients with DSD who were suspected as having complex gonadal status or Müllerian duct derivatives, attention must be paid to precisely diagnosing the gonadal status in ovotesticular DSD. On the other hand, therapeutic laparoscopic surgeries were valuable procedures in treating DSD patients, even with a history of previous diagnostic laparoscopy.     

Management of children with disorders of sex development: 20-year experience in southern Thailand

Background

Disorders of sex development (DSD) is a group of sexual differentiation disorders resulting in genital anomalies with defects in gonadal hormone synthesis and/or incomplete genital development. These conditions result in problems concerning the sex assignment of the child. This study aims to describe the clinical features, diagnosis and management of children with DSD in southern Thailand.

Methods

The medical records of 117 pediatric patients diagnosed with DSD during the period of 1991–2011 were retrospectively reviewed.

Results

Disorders of sex development were categorized into 3 groups: sex chromosome abnormalities (53.0%), 46,XX DSD (29.9%) and 46,XY DSD (17.1%). The two most common etiologies of DSD were Turner syndrome (36.8%) and congenital adrenal hyperplasia (29.9%). Ambiguous genitalia/intersex was the main problem in 46,XX DSD (94%) and 46,XY DSD (100%). Sex reassignment was done in 5 children (4.3%) at age of 3–5 years: from male to female in 4 children (1 patient with congenital adrenal hyperplasia, 1 patient with 45,X/46,XY DSD, and 2 patients with 46,XX ovotesticular DSD) and from female to male in 1 patient with 46,XX ovotesticular DSD. Of the total 20 children with 46,XY DSD, 16 (80%) were raised as females.

Conclusion

Management of DSD children has many aspects of concern. Sex assignment/reassignment depends on the phenotype (phallus size) of the external genitalia rather than the sex chromosome.     

先天性肾上腺皮质增生症致46XX性发育异常的外科治疗分析

目的 探讨先天性肾上腺皮质增生症(CAH)致儿童46,XX性发育异常(DSD)外科治疗最佳手术时机、手术方式及外科治疗效果.方法 回顾性分析2008年1月至2015年1月我院收治CAH致儿童46,XXDSD患儿共39例,18例定期门诊随访纳入本次研究,年龄1岁2个月～13岁3个月,平均4岁2个月,中位年龄3岁,随访时间3个月～7年.2例患儿仅表现为阴蒂肥大,行阴蒂整形术.16例同时伴有尿生殖窦共同开口,长度为0.5～4.0 cm,平均1.0 cm.8例阴道成形同时行尿道口前移;8例仅阴道成形术,未行尿道口前移.结果 15例术后会阴整体形态满意,3例因自行停用激素出现阴蒂肥大,18例患儿阴蒂触觉及温热觉正常;8例阴道成形、尿道口前移患儿中6例阴道口大小位置可;2例未遵医嘱行阴道扩张出现阴道狭窄;2例出现尿道口退缩;1例尿道阴道瘘.8例阴道成形患儿阴道口位置正常;2例未阴道扩张出现阴道狭窄.结论 CAH致儿童46,XXDSD最佳手术时机及手术方式仍存在争议.早期阴蒂整形术可以获得良好的会阴外观,且保持阴蒂的感觉功能;建议诊断明确及激素水平控制后尽早手术,最好于学龄前完成;早期阴道成形术后拥有满意疗效,但可能出现阴道狭窄,定期阴道扩张可能有助于减少阴道狭窄的发生;尿道口前移术后可能出现尿道口退缩、尿道阴道瘘等并发症.手术时机及手术方式需根据患儿激素水平、会阴发育情况及手术单位医疗水平综合进行考虑.     

Acquired Cryptorchidism in a Boy with Disorder of Sex Development

Recently, it has been reported that boys with severe hypospadias are at increased risk for acquired cryptorchidism. The reports suggested that prenatal and postnatal androgen disruption might be correlated with this condition. We experienced a case of ovotesticular disorder of sex development (DSD), which was ultimately diagnosed at surgery for acquired cryptorchidism. Ascent of the scrotal contents of the left side was detected in a 7-yr-old boy with the 46, XX karyotype, who had a history of perineal hypospadias repair. Intraoperative findings revealed the left gonad consisted of 2 segments, and this was histologically diagnosed as ovotestis by biopsy specimen. Resection of the ovarian segment was performed simultaneously. Exploration of the contralateral gonad showed the same findings. This is the first report of acquired cryptorchidism observed in a patient with DSD presenting with ambiguous genitalia.     

混合性性腺发育不良的临床特点与误诊分析

目的探讨混合性性腺发育不良(mixed gonadal dysgenesis,MGD)患儿的临床特点、导致误诊的原因及处理方式。方法回顾性分析2013年5月至2018年4月收治的24例MGD患儿的临床资料。24例患儿的年龄在10~39个月,平均21个月;身高71~97 cm,平均83 cm,其中10例患儿身高低于同年龄段平均身高2个标准差;就诊时22例抚养性别为男,2例抚养性别为女。Prader分级Ⅱ级3例,Ⅲ级15例,Ⅳ级6例。分析患儿性激素测定、性发育相关基因检测结果。对8例常规核型分析性染色体为46,XY的患儿采用荧光原位杂交(fluorescence in situ hybridization,FISH)方法复测,光学显微镜观察患儿切除或活检的性腺组织。结果本组患儿AMH值在16.57~189.92 ng/ml,均值为69.42 ng/ml;hCG刺激实验后睾酮值在0.71~8.09 nmol/L,均值为4.93 nmol/L。基因检测发现WT1基因致病突变,合并低蛋白血症和蛋白尿1例,诊断为Denys-Drash综合征。核型分析示,12例核型为45,X/46,XY,10例为46,XY(其中8例完成FISH检查证实性染色体为X嵌合XY),1例为45,X/46,XY/47,XYY,1例为45,X/47,XYY/48,XYYY。24例均存在阴道,22例探查到子宫或半角子宫。送检48份性腺组织,其中24份有发育不良的睾丸,其中1份睾丸性腺中可见未分化性腺组织。19份有纤维条索性腺,1份未分化性腺组织曾被误诊为卵巢。4份可见条索状性腺伴性索状结构。所有性腺组织均未见肿瘤征象。结论MGD患儿以外阴性别模糊多见常伴苗勒管残件。临床中对考虑诊断MGD的患儿不能仅采用染色体核型分析,可疑者应完善外周血FISH性染色体嵌合型检查。MGD患儿性腺病理检查可见未分化性腺类型,病理易将其识别为卵巢组织,从而将混合性性腺发育不良误诊为卵睾型DSD。     

Disorders of gonadal development: a broad clinical, cytogenetic and histopathologic spectrum

The most complicated group of sexual differentiation disorders is that of gonadal development. Disorders of gonadal development form a wide clinical, cytogenetic and histopathological spectrum. There are still some unsolved difficulties of diagnosis, development of malignancy and the sex rearing of these patients. We reviewed 23 cases of gonadal developmental disorders among 169 patients with ambiguous genitalia or delayed puberty. Among 169 patients, 87 patients were 46,XY disorders of sex development (DSD), 59 patients were 46,XX DSD without disorders of gonadal development and the remaining 23 patients had disorders of gonadal development. Nine of these 23 patients were diagnosed as 46,XY gonadal dysgenesis, 7 patients had ovotesticular DSD, 5 patients had 45,X/46,XY mixed gonadal dysgenesis. Fourteen patients with disorders of gonadal development had genital ambiguity, 5 patients had a female genital phenotype with a palpable gonad and/or delayed puberty. Four patients had the male genital phenotype. Disorder of gonadal development is a very important clinical problem with different aspects of diagnosis, treatment, rearing sex and prophylaxis. Each patient should be evaluated individually employing a multidiciplinary approach.     

儿童性心理评估量表在评估46,XY DSD性别特征中的应用

目的 探讨儿童性心理评估量表在评定46,XY性别发育异常(disorders of sex development,DSD)儿童性别特征中的作用.方法 回顾性分析2000年1月至2014年1月间80例46,XY DSD儿童临床资料,对年龄＜5岁者用学龄前儿童活动量表(PSAI),年龄≥5岁者用儿童性角色量表(CSRI)来评定性别特征.对既往治疗分配性别和本次研究评定性别结果进行比较,同时设对照组用相同方法来评定性别特征.结果 DSD年龄＜5岁组患儿32例,既往治疗性别分配为男28例,女4例.本次研究显示性别特征男性化29例,女性化3例.既往分配性别和本次研究评定性别符合率为90.6％(P＞0.05).对照组40例,性别特征均为男性化,符合率为100％,两组间对比差异无统计学意义(P=0.083).DSD年龄≥5岁组患儿48例,既往治疗性别分配为男33例,女15例.本次研究显示性别特征男性化39例,女性化8例,两性化1例.既往性别分配和本次研究评定性别符合率为82.9％,差异有统计学意义(P＜0.01).对照组患儿52例,性别特征均为男性化,符合率为100％.两组间对比差异有统计学意义(P=0.002).结论 应用PSAI和CSRI能分别对5岁前和5岁及以上DSD儿童的性别特征进行初步评定,为其性别分配提供一定的依据.