XY性腺发育不全
外观
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
[编辑]参考文献
[编辑]- ^ 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
[编辑]- 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.