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Abstract：
46,XX male disorders of sex development are rare. Approximately 80% of cases of testicular tissue differentiation may be due to translocation of SRY to the X chromosome or an autosome. SRY-negative 46,XX males show overexpression of pro-testis genes, such as SOX9 and SOX3, or failure of pro-ovarian genes, such as WNT4 and RSPO1, which induces testis differentiation, however, almost all testicles exhibit dysgenesis. Following inadequate exposure to androgens during the embryo stage, remnants of the Mullerian duct and incomplete closure of the urogenital sinus lead to enlargement of prostatic utricles. This condition is associated with proximal hypospadias and disorders of sex development. Many cases are asymptomatic, but show increased rates of postoperative complications and surgical failure.
A 5-year-old Chinese boy with scrotal hypospadias and bilateral cryptorchidism with prostatic utricles was presented. Gonadal histology showed ovo-testicular tissue on the right side and testicular tissue on the left side; all testicular tissue exhibited dysgenesis. Furthermore, chromosome karyotype analysis revealed 46,XX and, the presence of SRY was ruled out by polymerase chain reaction analysis. Whole-genome analysis showed the boy has a 1.4-Mb duplication in the Xq27.1q27.2 region (arr[hg19]Xq27.1q27.2:139585794-140996652) involving SOX3. No SOX3 duplication was observed in the parents, who had a normal phenotype.
We report the first case of an SRY-negative 46 XX male with prostatic utricle caused by SOX3 duplication. SOX3 duplication may cause sex reversal, and all 46,XX SRY-negative males should be screened for SOX3 mutations. Gonadal biopsy is recommended to evaluate ovarian and testicular tissue development. Testicular dysgenesis and low exposure to male hormones during fetal development can lead to enlarged prostatic utricles. Thus endoscopic examination should be performed preoperatively to detect prostatic utricles in SRY-negative 46,XX males to determine the surgical plan and reduce postoperative complications.
A 5-year-old Chinese boy with scrotal hypospadias and bilateral cryptorchidism with prostatic utricles was presented. Gonadal histology showed ovo-testicular tissue on the right side and testicular tissue on the left side; all testicular tissue exhibited dysgenesis. Furthermore, chromosome karyotype analysis revealed 46,XX and, the presence of SRY was ruled out by polymerase chain reaction analysis. Whole-genome analysis showed the boy has a 1.4-Mb duplication in the Xq27.1q27.2 region (arr[hg19]Xq27.1q27.2:139585794-140996652) involving SOX3. No SOX3 duplication was observed in the parents, who had a normal phenotype.
We report the first case of an SRY-negative 46 XX male with prostatic utricle caused by SOX3 duplication. SOX3 duplication may cause sex reversal, and all 46,XX SRY-negative males should be screened for SOX3 mutations. Gonadal biopsy is recommended to evaluate ovarian and testicular tissue development. Testicular dysgenesis and low exposure to male hormones during fetal development can lead to enlarged prostatic utricles. Thus endoscopic examination should be performed preoperatively to detect prostatic utricles in SRY-negative 46,XX males to determine the surgical plan and reduce postoperative complications.
摘要：
46，XX男性性发育障碍罕见。大约80％的睾丸组织分化病例可能是由于SRY易位到X染色体或常染色体。SRY阴性46，XX男性显示睾丸前基因的过表达，如SOX9和SOX3，或前卵巢基因的失败，如WNT4和RSPO1，诱导睾丸分化，然而,几乎所有的睾丸都表现出发育不全。在胚胎阶段暴露于雄激素不足后，苗勒管的残留物和泌尿生殖窦的不完全闭合导致前列腺增大。这种情况与近端尿道下裂和性发育障碍有关。许多病例是无症状的,但显示术后并发症和手术失败的发生率增加。
介绍了一个5岁的中国男孩，患有阴囊尿道下裂和双侧隐睾伴前列腺输尿管。性腺组织学显示右侧睾丸组织和左侧睾丸组织；所有睾丸组织均表现出发育不全。此外，染色体核型分析显示46，XX和，通过聚合酶链反应分析排除了SRY的存在.全基因组分析显示，该男孩在涉及SOX3的Xq27.1q27.2区域（arr[hg19]Xq27.1q27.2：139585794-140996652）中有1.4Mb重复。在父母中没有观察到SOX3重复，表型正常的人。
我们报告了第一例SRY阴性的46XX男性，由SOX3重复引起的前列腺囊。SOX3重复可能会导致性别逆转，所有46，XXSRY阴性男性都应进行SOX3突变筛查。建议进行性腺活检以评估卵巢和睾丸组织的发育。睾丸发育不全和胎儿发育过程中男性荷尔蒙的低暴露会导致前列腺肥大。因此，术前应进行内窥镜检查，以检测SRY阴性46，XX男性的前列腺细胞，以确定手术计划并减少术后并发症。
介绍了一个5岁的中国男孩，患有阴囊尿道下裂和双侧隐睾伴前列腺输尿管。性腺组织学显示右侧睾丸组织和左侧睾丸组织；所有睾丸组织均表现出发育不全。此外，染色体核型分析显示46，XX和，通过聚合酶链反应分析排除了SRY的存在.全基因组分析显示，该男孩在涉及SOX3的Xq27.1q27.2区域（arr[hg19]Xq27.1q27.2：139585794-140996652）中有1.4Mb重复。在父母中没有观察到SOX3重复，表型正常的人。
我们报告了第一例SRY阴性的46XX男性，由SOX3重复引起的前列腺囊。SOX3重复可能会导致性别逆转，所有46，XXSRY阴性男性都应进行SOX3突变筛查。建议进行性腺活检以评估卵巢和睾丸组织的发育。睾丸发育不全和胎儿发育过程中男性荷尔蒙的低暴露会导致前列腺肥大。因此，术前应进行内窥镜检查，以检测SRY阴性46，XX男性的前列腺细胞，以确定手术计划并减少术后并发症。
