XY性腺发育不全

XY性腺发育不全
XY性腺发育不全
同义词	斯威尔症候群
	SRY基因
类型	性腺发育不良[]、disorder of sex development, 46,XY[]、疾病
分类和外部资源
医学专科	医学遗传学
ICD-11	LD2A.1
ICD-10	Q56.4
OMIM	400044、154230、233420、300018、612965、613080、613762、614279、607080、616067
DiseasesDB	31464
Orphanet	242
	[编辑此条目的维基数据]

XY性腺发育不全（英语：XY gonadal dysgenesis），也称为斯威尔症候群（英语：Swyer syndrome），是第23对染色体为XY的人的一种性腺机能减退症。由于患者的Y染色体失去SRY基因，所以他们通常有正常的女性外生殖器，性别认同为女性，并作为女孩抚养长大^[1]。

患者外表为女性，但性腺功能不全。这种性腺通常需要通过手术切除（因为它们有患癌症的巨大风险）。典型的治疗方法是激素替代疗法^[2]。在斯威尔症候群中，有时可以使用辅助生殖技术怀孕^[3]^[4]^[5]。

知名患者

阿里斯利达·迪隆（英语：Arisleyda Dilone），美国导演、女演员^[6]
萨拉·福斯伯格（英语：Sara Forsberg），芬兰歌手、词曲作者、电视节目主持人^[7]

参考文献

^ Reference, Genetics Home. Swyer syndrome. Genetics Home Reference. [6 May 2019]. （原始内容存档于2019-12-16）（英语）.
^ Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP. Review and management of 46,XY disorders of sex development.. J Pediatr Urol. 29 December 2012, 9 (3): 368–379. PMID 23276787. doi:10.1016/j.jpurol.2012.12.002.
^ Taneja, Jyoti; Ogutu, David; Ah-Moye, Michael. Rare successful pregnancy in a patient with Swyer Syndrome. Case Reports in Women's Health. 18 October 2016, 12: 1–2. ISSN 2214-9112. PMC 5885995 . PMID 29629300. doi:10.1016/j.crwh.2016.10.001.
^ Urban, Aleksandra; Knap-Wielgus, Weronika; Grymowicz, Monika; Smolarczyk, Roman. Two successful pregnancies after in vitro fertilisation with oocyte donation in a patient with Swyer syndrome – a case report. Przegla̜d Menopauzalny = Menopause Review. September 2021, 20 (3): 158–161. ISSN 1643-8876. PMC 8525253 . PMID 34703418. doi:10.5114/pm.2021.109361.
^ Gupta, Anupam; Bajaj, Ritika; Jindal, Umesh N. A Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both. Journal of Human Reproductive Sciences. 2019, 12 (3): 267–269. ISSN 0974-1208. PMC 6764226 . PMID 31576088. doi:10.4103/jhrs.JHRS_14_19 .
^ Mami Y Yo y Mi Gallito, by Director Arisleyda Dilone – Intersex Campaign for Equality. www.intersexequality.com. [2021-03-27].
^ Kantola, Iida. Sara Forsberg kertoo olevansa intersukupuolinen. Ilta-Sanomat. 27 October 2023 （Finnish）.

伸延阅读

Stoicanescu D, Belengeanu V, et al. Complete gonadal dysgenesis with XY chromosomal constitution. Acta Endocrinologica. 2006, 2 (4): 465–70. doi:10.4183/aeb.2006.465.

[GHR2019-1] Reference, Genetics Home. Swyer syndrome. Genetics Home Reference. [6 May 2019]. （原始内容存档于2019-12-16）（英语）.

[2] Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP. Review and management of 46,XY disorders of sex development.. J Pediatr Urol. 29 December 2012, 9 (3): 368–379. PMID 23276787. doi:10.1016/j.jpurol.2012.12.002.

[3] Taneja, Jyoti; Ogutu, David; Ah-Moye, Michael. Rare successful pregnancy in a patient with Swyer Syndrome. Case Reports in Women's Health. 18 October 2016, 12: 1–2. ISSN 2214-9112. PMC 5885995 . PMID 29629300. doi:10.1016/j.crwh.2016.10.001.

[4] Urban, Aleksandra; Knap-Wielgus, Weronika; Grymowicz, Monika; Smolarczyk, Roman. Two successful pregnancies after in vitro fertilisation with oocyte donation in a patient with Swyer syndrome – a case report. Przegla̜d Menopauzalny = Menopause Review. September 2021, 20 (3): 158–161. ISSN 1643-8876. PMC 8525253 . PMID 34703418. doi:10.5114/pm.2021.109361.

[5] Gupta, Anupam; Bajaj, Ritika; Jindal, Umesh N. A Rare Case of Swyer Syndrome in Two Sisters with Successful Pregnancy Outcome in Both. Journal of Human Reproductive Sciences. 2019, 12 (3): 267–269. ISSN 0974-1208. PMC 6764226 . PMID 31576088. doi:10.4103/jhrs.JHRS_14_19 .

[6] Mami Y Yo y Mi Gallito, by Director Arisleyda Dilone – Intersex Campaign for Equality. www.intersexequality.com. [2021-03-27].

[7] Kantola, Iida. Sara Forsberg kertoo olevansa intersukupuolinen. Ilta-Sanomat. 27 October 2023 （Finnish）.

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