第二性征正常的SRY阴性46,XX男性综合征一例并文献复习

doi:10.12280/gjszjk.20230292

国际生殖健康/计划生育杂志 ›› 2023, Vol. 42 ›› Issue (6): 454-456.doi: 10.12280/gjszjk.20230292

第二性征正常的SRY阴性46,XX男性综合征一例并文献复习

崔领兵, 田文艳()

300052 天津医科大学总医院妇产科，天津市女性生殖健康与优生重点实验室

收稿日期:2023-07-14 出版日期:2023-11-15 发布日期:2023-11-09
通讯作者: 田文艳 E-mail:tianwenyan1108@163.com
基金资助:
国家自然科学基金(82171629);天津市医学重点学科（专科）建设项目资助(TJYXZDXK-031A)

SRY Negative 46, XX Male Syndrome with Normal Secondary Sexual Characteristics: A Case Report and Literature Review

CUI Ling-bing, TIAN Wen-yan()

Department of Obstetrics and Gynecology, Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin 300052, China

Received:2023-07-14 Published:2023-11-15 Online:2023-11-09
Contact: TIAN Wen-yan E-mail:tianwenyan1108@163.com

摘要/Abstract

摘要：

46, XX男性综合征是一类罕见的性发育障碍性疾病，通常染色体为46, XX且Y染色体性别决定区（sex-determining region Y gene，SRY）阳性，有正常的外生殖器和男性表型，多因成年后不育就诊。而SRY阴性的46, XX男性综合征患者多伴发外生殖器发育畸形，多因年幼时性发育异常就诊。报告1例SRY阴性的46, XX男性综合征患者，该患者外生殖器及第二性征发育均为正常男性型，检查发现患者核型为46, XX、SRY阴性、AZF区域缺失、高促性腺激素性性腺功能减退症且无精子症，其生育建议行供精人工授精。

关键词: 46,XX性发育睾丸疾病, 基因，sry, 染色体缺失, 无精子症, 核型分析, 性别决定机制, 不育，男（雄）性

Abstract:

46, XX male syndrome is a rare disorder of sex development, which usually has a 46, XX chromosome karyotype and positive sex-determining region Y gene (SRY), normal external genitalia and male phenotype. Most of them come to hospital due to adult infertility. The patients with SRY negative 46, XX male syndrome are often accompanied by external genital malformations, and most of them seek the treatment because of abnormal sexual development at young age. A case of SRY negative 46, XX male syndrome was reported in this paper. The development of external genitalia and secondary sexual characteristics in this patient were normal male type. The chromosome karyotype was 46, XX, while SRY was negative and AZF region was deleted. The hypergonadotropin hypogonadism and azoospermia were diagnosed. As for the fertility requirement of this patient, artificial insemination by donor was recommended.

Key words: 46, XX testicular disorders of sex development, Genes, sry, Chromosome deletion, Azoospermia, Karyotyping, Sex determination processes, Infertility, male

崔领兵, 田文艳. 第二性征正常的SRY阴性46,XX男性综合征一例并文献复习[J]. 国际生殖健康/计划生育杂志, 2023, 42(6): 454-456.

CUI Ling-bing, TIAN Wen-yan. SRY Negative 46, XX Male Syndrome with Normal Secondary Sexual Characteristics: A Case Report and Literature Review[J]. Journal of International Reproductive Health/Family Planning, 2023, 42(6): 454-456.

图/表 2

参考文献 20

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序号	序列标记位点	区域	结果
1	sY84	AZFa	不存在
2	sY86	AZFa	不存在
3	sY127	AZFb	不存在
4	sY134	AZFb	不存在
5	sY254	AZFc	不存在
6	sY255	AZFc	不存在
7	-	SRY	不存在

序号	序列标记位点	区域	结果
1	sY84	AZFa	不存在
2	sY86	AZFa	不存在
3	sY127	AZFb	不存在
4	sY134	AZFb	不存在
5	sY254	AZFc	不存在
6	sY255	AZFc	不存在
7	-	SRY	不存在

第二性征正常的SRY阴性46,XX男性综合征一例并文献复习

SRY Negative 46, XX Male Syndrome with Normal Secondary Sexual Characteristics: A Case Report and Literature Review

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