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.     

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.     

卵睾型性发育异常单中心临床诊治分析

目的 总结卵睾型性发育异常的临床特点及诊治经验.方法 回顾性分析1993年1月至2015年12月就诊于医院并通过病理确诊卵睾型性发育异常的32例患儿临床资料和随访资料.社会性别:男30例,女2例.12.5％呈女性外貌,生殖器类别模糊,阴蒂1～3 cm,小阴唇发育差,有乳房发育;87.5％呈男性外貌,阴茎发育极差,重度下弯,尿道开口异常(位于阴囊处或会阴部),阴囊不同程度女性化,外形近阴唇貌,其中46.9％(15/32)伴有隐睾.染色体核型分析:46,XX卵睾型DSD 11例;46,XY卵睾型DSD 1例;性染色体异常DSD中的卵睾型性发育异常20例(嵌合性46,XY/46,XX6例;混合型14例).结果 11例行泌尿生殖系彩超和排泄性尿道阴道造影,二者结合检出率为100％(11/11).5例行SYR基因筛查,1例45,X卵睾型DSD及1例45,X/46,XY卵睾型DSD为SYR阳性,1例45,X/46,XY SYR基因为阴性,余2例46,XX卵睾型DSD中,50％SYR基因为阴性.64个性腺中16个卵睾,25个睾丸,23个卵巢.性腺畸形:双侧型5例,单侧型6例,片侧型21例.30例按男性抚养者均完成阴茎矫直术和尿道重建术.对29例患儿进行8个月～9年的随访,其中3例术后反复发生尿瘘,多次行尿瘘修补术,阴茎及睾丸发育极差,生活质量差;4例术后尿道开口位于冠状沟部或阴茎体部,排尿可;3例进入青春期后有乳房发育;2例阴茎、睾丸发育稍差;余阴茎形态可,长2.5～4.0 cm,睾丸测值较同龄人稍小.2例按女性抚养者均完成阴蒂矫形术,均获得满意的外观,1例处于青春期发育阶段,另1例予雌激素替代治疗后获得青春期发育,外阴形态可,有乳房发育.结论 早期诊断,确诊后是否立刻性别选择行手术治疗仍有争议,我们认为应将患儿的心理性别、社会性别作为参考的首要标准结合激素水平评估、优势性腺评估最后选择性腺切除或重建手术并辅以激素治疗.对于维持患儿正常的性生理、性心理及社会生活具有重要的意义.     

46, XY 性发育障碍儿童 NR5A1 基因突变 1 例报告及文献复习

目的探讨NR5A1基因突变导致的46,XY性发育障碍(DSD)的临床表现和分子诊断。方法回顾分析1例社会性别为女性的46,XY DSD患儿的临床资料,并复习相关文献。结果社会性别为女性的11.5岁患儿,因偶然发现阴蒂肥大半个月就诊;初步系列实验室检查诊断考虑支持46,XY DSD,高促性腺激素性发育不良。全基因组外显子组DNA测序提示NR5A1基因,c.937 CT,p.Arg313Cys杂合突变;母亲为杂合突变携带者,父亲无异常。结论临床表现为46,XY DSD,性腺发育不良、外生殖器女性化合并肾上腺功能不足;提示存在SF1基因突变的可能性,全基因组外显子基因测序可帮助明确诊断。     

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.     

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.     

Gender role across development in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

This study evaluated the degree of femininity and masculinity at different developmental stages in a group of adult women, some of whom were exposed to elevated prenatal adrenal androgens as a result of congenital adrenal hyperplasia (CAH) due to 21 hydroxylase (21-OH) deficiency. Women who had presented to the Johns Hopkins Hospital Pediatric Endocrine Clinic for treatment of CAH due to 21-OH deficiency were included. The control group consisted of sisters of CAH participants and women referred for evaluation of polycystic ovary syndrome. Study participants were given a questionnaire asking them to indicate their degree of masculinity and femininity during childhood, adolescence, and adulthood. In addition, participants were asked questions related to their play behavior during childhood, including playmate preferences, toy preferences, and admiration of male or female characters during fantasy play. Across participant groups, self-reported femininity decreased in a dose response manner, according to prenatal androgen exposure. For all groups, femininity increased through developmental stages. Women with salt-losing CAH remained less feminine than controls into adulthood. Conversely, self-reported masculinity increased in a dose-response manner, according to prenatal androgen exposure, across participant groups. Women with CAH showed a decrease in masculinity across developmental stages, such that by adulthood, there were no significant differences in masculinity between controls and the women with CAH. Women with salt-losing CAH were more likely to recall preferences for boy playmates, male-typical toys, and admiration for male characters during childhood than other study participants. Our data support the effect of both prenatal androgen exposure and socialization on gender role behavior in adult women with CAH due to 21-OH deficiency.     

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。     

性发育异常新生儿的临床评价和管理

性发育异常/性分化异常（DSD）是患儿染色体核型与性腺表型和（或）性腺的解剖结构不一致,表现为新生儿性别难辨。DSD主要根据染色体核型分为3类：46,XY DSD、46,XX DSD、性染色体DSD。临床上需要结合病史、体格检查、实验室和影像学检查来进行新生儿DSD的诊断、综合评估以及明确潜在的病因。性别认定必须在所有诊断评估完成后才能做出。医学社会多因素包括基因型性别（核型）、激素性性别（睾酮、双氢睾酮、肾上腺类固醇系列激素水平）、表现型性别（内外生殖器的外观）、生殖性别（生育的潜能）和父母的感觉乃至社会接受程度和宗教习俗等都会影响DSD患儿的性别认定。一个多学科合作的团队是必需的,患儿家人必须参与到有关性别认定的所有过程中。新生儿医师对于DSD 的主要任务在于评估患儿状况及其管理。     

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.     

Laparoscopy versus ultrasonography for the evaluation of Mullerian structures in children with complex disorders of sex development

Purpose

The diagnosis of children with disorders of sex development (DSD) requires a karyotype, different biochemical and radiological investigations in the context of a multidisciplinary team. The aim of this study was to compare the diagnostic accuracy of laparoscopy (L) versus ultrasonography (US) in the assessment of children with complex DSD.

Methods

We retrospectively examined the theatre database searching for children with DSD who underwent laparoscopic surgery from 1999 to 2011. The medical and radiological records were reviewed.

Results

Eighteen patients were identified. Age at diagnosis ranged from birth to 14?years (mean 2.5?years). There were seven patients with 46XY dysgenetic testicular DSD (4 mosaic Turner, 3 mixed gonadal dysgenesis), seven patients with 46XY non-dysgenetic testicular DSD (4 persistent Mullerian duct syndrome, 2 complete androgen insensitivity syndrome, one unknown), two patients with ovotesticular DSD, one patient with 46XX DSD (congenital adrenal hyperplasia) and one patient with 46XY DSD complete sex reversal. Fifteen underwent ultrasonography prior to laparoscopy. Both modalities identified Mullerian structures in seven (47?%) patients, in one (7?%) patient US and L confirmed the absence of Mullerian structures, while in six (40?%) patients there was discordance, with US failing to visualize pelvic Mullerian structures. In the last patient with 46XY non-dysgenetic testicular DSD, the rectum was thought to be a dilated uterus on ultrasonography.

Conclusions

Pelvic ultrasonography failed to identify Mullerian structures in 40?% of patients with complex DSD. On the contrary, laparoscopy allowed excellent visualization of pelvic structures and gonads in children with complex DSD.     

A model of delivering multi-disciplinary care to people with 46 XY DSD

In 2006, a consensus statement was jointly produced by the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society of Paediatric Endocrinology (ESPE) concerning the management of disorders of sex development (DSD) [1]. A recommendation provided by this consensus was that evaluation and long-term care for people affected by DSD should be performed at medical centers with multi-disciplinary teams experienced in such conditions. Here we provide our team's interpretation of the 2006 consensus statement recommendations and its translation into a clinical protocol for individuals affected by 46 XY DSD with either female, or ambiguous, genitalia at birth. Options for medical and surgical management, transitioning of care, and the use of mental health services and peer support groups are discussed. Finally, we provide preliminary data to support the application of our model for delivering multi-disciplinary care and support to patients and their families.     

SRY基因检测在儿童性发育疾病诊断中的应用

目的：应用SRY基因直接测序检测技术和外周血染色体核型分析技术对外生殖器模糊的幼儿及青春期儿童进行检查以明确诊断。方法：采用常规G显带方法分析20例外生殖器模糊的患儿染色体核型,用PCR技术扩增其SRY基因,进行基因测序,分析是否存在SRY基因及SRY基因是否存在突变情况。结果：20例患儿中SRY基因阳性的有17例,阴性3例。直接测序结果显示所有SRY基因阳性患者该基因均未发生突变。染色体核型分析中检出4例特殊核型为：46, XY, del (Y) (q12)/45, X、46, XY, add (Y) (p11)、46, XY, r (9)及46, XY, 9 qh+。结论：SRY基因检测有助于明确儿童性发育疾病的分型,具有快速检测的优越性,与常规G显带相结合分析有助于儿童性发育疾病的初步诊断。     

Pediatric disorders of sex development

The management of disorders of sexual differentiation (DSD) involves a multidisciplinary approach. The main aim of analysis was to study the phenotype-karyotype correlation in North Indian children with DSD. The records of pediatric DSD were retrieved and characteristics noted. Of total of 58 children, 43 (74.1%) and 10 (17.2%) were raised as males and females respectively. The mean age at presentation was 31.3±9 months. The karyotype was 46XY in 45 (77.6%) and 46XX in 12 (20.7%). CAH was commonest cause of DSD (36.2%), followed by gonadal dysgenesis. Of the 15 patients of 46 XY CAH, there were 5 with 17-α hydroxylase deficiency, 2 with 3-β HSD deficiency and one case of lipoid adrenal hyperplasia. There was an excess of genetic males, possibly due to prevalent socio-cultural factors and gender bias favoring males. There is a need to improve the diagnostic facilities and incorporate a team approach in management of DSD.     

Disorders of sex development: Challenges in a low-resource country

AimWe aimed to identify the challenges in the management of sexual development abnormalities in a low-resource country.MethodsThe study was retrospective from January 2000 to December 2017 based on patient records from two pediatric surgery departments. Epidemiological, clinical, paraclinical, treatment, and outcome data were studied.ResultsWe collected data on 13 patients (average age = 7.95 years). The sex of rearing was as follows: three females (23%), 10 males (77%). Atypical genitalia other than hypospadias represented the reason for consultation in 92% of the cases. We could not find complete hormonal analyses; testosterone levels were studied in 69.23% of cases. We found the following disorders of sexual development (DSD): four patients with 46,XX karyotype (30.77%), eight patients with 46,XY karyotype (61.53%), and one patient with 46,XX/XY karyotype. Four patients had medical treatment only, four had surgical treatment only, and one patient had medical and surgical treatment. The medical treatment comprised topical administration of androgen. The surgical treatment consisted of feminizing genitoplasty for one patient and masculinizing genital surgeries for two patients. Six of the 13 patients were lost to follow-up.ConclusionThe socioeconomic difficulties of the population and the lack of access to basic diagnostic and paraclinical methods, coupled with the negative cultural representations of the pathology, constitute the challenges in the management of DSD in our practice.     

Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development

The aim of this study was to assess the clinical and endocrinological features, and to analyze AR and SRD5A2 genes in patients with 46,XY disorders of sex development (DSD). This study included 20 patients from 19 families showing clinical features of 46,XY DSD. Molecular analysis was performed of the AR and SRD5A2 genes, as well as endocrinological evaluations, such as 17a-hydroxyprogesterone, plasma renin activity, aldosterone, adrenocorticotropic hormone and hCG stimulation test. Out of 20 patients with 46,XY DSD, only one (5%) displayed androgen insensitivity syndrome (AIS), and four (20%) were 5alpha-reductase deficient by mutation analysis. The patient with AIS revealed significant elevation of serum testosterone following hCG stimulation. The patient with 5alpha-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level. The patient with p.Q6X/p.R246Q mutations showed a moderately elevated testosterone/dihydrotestosterone ratio following hCG stimulation. Endocrinological tests are not reliable for the etiological diagnosis of AIS and 5alpha-reductase deficiency due to variable reference ranges of hormonal profiles according to the age and the severity of the enzyme defect. DNA analysis may be employed as a tool for the early and precise diagnosis of patients with 46,XY DSD, and genetic counseling can be used for families at risk.     

Factors contributing to sex assignment and reassignment decisions in Turkish children with 46,XY disorders of sex development

BACKGROUND: Sex assignment decisions for children with disorders of sex development (DSD) should be based on integrative assessments of relevant biological and psychosocial characteristics. AIM: To investigate the factors that contributed to sex assignment decisions for children with 46,XY DSD. PATIENTS: Sixty-one children recruited from a clinical sample were evaluated. METHODS: Findings of endocrinological and psychiatric evaluations were entered into a logistic regression analysis. RESULTS: Gender identity was the strongest correlate of assigned sex. External genital under-virilization, sex announced at birth and toy/ activity preferences were predominant predictors. Twelve children, six of whom were prepubertal, were reassigned to male sex. CONCLUSIONS: Psychological factors seem to be as influential on sex reassignment decisions as are endocrinological and social factors, especially if the disorder is diagnosed at an older age. Prepubertal gender conversion is possible, which implies the importance of follow-up during childhood.     

The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype

Deletions and mutations in the 5-alpha-reductase type 2 (SRD5A2) gene have been identified in 46,XY disorders of sexual differentiation (DSD). The clinical spectrum is heterogeneous, varying from a normal female external genital appearance to clitoromegaly and isolated micropenis or microphallus associated with hypospadias of various degrees. We describe a 46,XY DSD patient with a homozygous c.307C>T (p.R103X) mutation in the SRD5A2 gene. The case presented with a normal female external genital phenotype.     

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。     

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.