參考文獻(xiàn)
[1]M.Abofoul-Azabetal.,‘Identification of Premeiotic,Meiotic,and Cells in Testicular Biopsies Without Sperm from Sertoli Cell-Only Syndrome Patients’, Int J Mol Sci, vol. 20, no. 3, p. E470, Jan. 2019, doi: 10.3390/ijms20030470.
[2]K.Ramphul and S. G. Mejias,‘Sertoli-Cell-Only Syndrome’, in StatPearls, Treasure Island (FL): StatPearls Publishing, 2021.Accessed: Sep.15,2021.[Online].Available:
http://www.ncbi.nlm.nih.gov/books/NBK534293/
[3]V.Vloeberghs,G. Verheyen,P. Haentjens,A. Goossens,N. P. Polyzos,and H. Tournaye,‘How successful is TESE-ICSI in couples with non-obstructive azoospermia?’,Hum Reprod, vol. 30, no. 8, pp. 1790–1796, Aug. 2015, doi: 10.1093/humrep/dev139.
[4]H. Li, C. Wu, X. Gu, and C. Xiong,‘A novel application of cell-free seminal mRNA: non-invasive identification of the presence of germ cells or complete obstruction in men with azoospermia’, Hum Reprod, vol. 27, no. 4, pp. 991–997, Apr. 2012, doi: 10.1093/humrep/der481.
[5]Q. Yu, X. Gu, X. Shang, H. Li, and C. Xiong, ‘Discrimination and characterization of Sertoli cell-only syndrome in non-obstructive azoospermia using cell-free seminal DDX4’, Reprod Biomed Online, vol. 33, no. 2, pp. 189–196, Aug. 2016, doi: 10.1016/j.rbmo.2016.05.001.
[6]P. J. Turek and M. H. Johnson, ‘A seminal molecular marker for sperm presence in non-obstructive azoospermia?’, Reprod Biomed Online, vol. 33, no. 2, pp. 119–120, Aug. 2016, doi: 10.1016/j.rbmo.2016.06.004.
[7]W. P. A. Boellaard, H. Stoop, A. J. M. Gillis, J. Wolter. Oosterhuis, and L. H. J. Looijenga,‘VASA mRNA (DDX4) detection is more specific than immunohistochemistry using poly- or monoclonal antibodies for germ cells in the male urogenital tract’, Medicine (Baltimore), vol. 96, no. 30, p. e7489, Jul. 2017, doi: 10.1097/MD.0000000000007489.
[8]Y. M. Lin, P. L. Kuo, Y. H. Lin, Y. N. Teng, and J. S. Nan Lin, ‘Messenger RNA transcripts of the meiotic regulator BOULE in the testis of azoospermic men and their application in predicting the success of sperm retrieval’, Hum Reprod, vol. 20, no. 3, pp. 782–788, Mar. 2005, doi: 10.1093/humrep/deh647.
[9]Y. Dai, X. Kong, C. Yao, X. Gu, C. Xiong, and H. Li, ‘Screening cell-free seminal mRNAs for non-invasive identification of early maturation arrest and prediction of testicular sperm retrieval in men with non-obstructive azoospermia’, Clinical Chemistry, 2021.
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什么是唯支持細(xì)胞綜合征？
唯支持細(xì)胞綜合征（sertoli cell only syndrome, SCOS）以睪丸生精小管內(nèi)生殖細(xì)胞缺乏為特征，影響26.3-57.8%的無(wú)精子癥男性[1]，是非梗阻性無(wú)精子癥中最嚴(yán)重的一種。唯支持細(xì)胞綜合征（以下簡(jiǎn)稱：唯支）大部分病因不明，可能病因包括遺傳因素，和繼發(fā)因素如放療與化療、病毒感染和有害物質(zhì)暴露等[2]。
睪丸病理診斷唯支的不足
目前臨床上診斷唯支的金標(biāo)準(zhǔn)是診斷性睪丸活檢。診斷性睪丸活檢通過(guò)一種簡(jiǎn)單的手術(shù)方法取出一小塊活體睪丸組織，進(jìn)行病理切片組織學(xué)觀察，來(lái)了解睪丸生精的狀況，故其僅能*表取材區(qū)域的精子發(fā)生狀態(tài)，但精子發(fā)生是一個(gè)動(dòng)態(tài)的過(guò)程，而且在睪丸的各區(qū)域存在異質(zhì)性，所以，局部的結(jié)果并不能*表整個(gè)睪丸的生精狀態(tài)。采取睪丸活檢診斷為唯支的患者中，有大于20%的患者能通過(guò)顯微取精的方法找到精子，是有可能獲得血緣后*的[1]。
所以睪丸活檢雖是目前臨床診斷唯支的金標(biāo)準(zhǔn)，但這個(gè)方法并不是最準(zhǔn)確最理想的方法。
唯支患者睪丸找到精子生育后*的可能性有多大？
即使是生精功能嚴(yán)重低下的唯支持細(xì)胞綜合征的患者，睪丸中仍可能殘存部分有生精功能的組織，只是由于這些組織過(guò)于稀少，因此傳統(tǒng)的睪丸穿刺、活檢等方法難以把它們找到。可以考慮通過(guò)睪丸顯微取精（micro-TESE）的方法，即借助手術(shù)顯微鏡放大15-20倍以后，在睪丸中去尋找殘留的局灶生精區(qū)域，選出“最好”的精子注射到女方的*細(xì)胞中來(lái)獲得由血緣關(guān)系的后*。大約有13%的唯支患者通過(guò)這樣的方法得到了有血緣關(guān)系的孩子。[3]
我院診斷和預(yù)測(cè)唯支有什么獨(dú)特優(yōu)勢(shì)？
我院院長(zhǎng)熊承良教授課題組從21世紀(jì)初便開(kāi)始探索更好的診斷唯支的方法，經(jīng)過(guò)課題組10多年不懈努力，率先建立了與傳統(tǒng)睪丸活檢相比更嚴(yán)格、準(zhǔn)確、靈敏、高效及無(wú)創(chuàng)的診斷方法[4]，發(fā)現(xiàn)了預(yù)測(cè)唯支患者顯微取精成功率的生物指標(biāo)。
精漿游離DDX4 mRNA——無(wú)創(chuàng)、更加準(zhǔn)確、靈敏高效
精漿游離DDX4 mRNA是嚴(yán)格的生精細(xì)胞特異性標(biāo)志物，它可以*表雙側(cè)睪丸所有區(qū)域的RNA信息。雖然DDX4 mRNA在精漿中的量并不大，但是加上對(duì)低拷貝RNA也十分靈敏的PCR技術(shù)，即使是少量的DDX4,也能檢測(cè)出來(lái)。只要精漿游離DDX4 mRNA為陽(yáng)性，那么就*表著患者睪丸中有生精細(xì)胞，有獲得血緣子*的希望。該方法已在臨床進(jìn)行應(yīng)用和總結(jié)[5]，其優(yōu)勢(shì)也得到專家的撰文述評(píng)[6]及其他小組的證實(shí)[7]。
精漿游離BOLL mRNA——預(yù)測(cè)顯微取精成功率的新分子
BOLL是睪丸特異的高度保守的生殖細(xì)胞周期調(diào)控基因，在精子發(fā)生減數(shù)分裂中起著重要作用。之前的研究表明BOLL基因在睪丸中的表達(dá)水平是睪丸中是否有精子存在的指標(biāo)[8]。而我院熊承良教授課題組首次證明了精漿游離BOLL mRNA能反映BOLL基因在生殖細(xì)胞中的表達(dá)水平，建立了將之用于預(yù)測(cè)顯微取精成功率的方法 ，并得到我國(guó)的切點(diǎn)值[9]。
我院對(duì)于唯支的診療方案
總之，通過(guò)睪丸顯微取精術(shù)，大約40%以上的非梗阻性無(wú)精子癥患者及13%的唯支患者均可以找到精子；睪丸體積小、FSH明顯升高甚至部分染色體異常等，都不會(huì)降低找到精子的概率，睪丸小至2毫升(約花生米大小)者找到精子的概率與體積正常的睪丸相同。
所以，即使被判為唯支持細(xì)胞綜合征的男性同胞們也不要沮喪，積極配合檢查，根據(jù)實(shí)際情況進(jìn)行治療，還是有很大希望生育自己的寶寶的！
參考文獻(xiàn)
[1]M.Abofoul-Azabetal.,‘Identification of Premeiotic,Meiotic,and Cells in Testicular Biopsies Without Sperm from Sertoli Cell-Only Syndrome Patients’, Int J Mol Sci, vol. 20, no. 3, p. E470, Jan. 2019, doi: 10.3390/ijms20030470.
[2]K.Ramphul and S. G. Mejias,‘Sertoli-Cell-Only Syndrome’, in StatPearls, Treasure Island (FL): StatPearls Publishing, 2021.Accessed: Sep.15,2021.[Online].Available:
http://www.ncbi.nlm.nih.gov/books/NBK534293/
[3]V.Vloeberghs,G. Verheyen,P. Haentjens,A. Goossens,N. P. Polyzos,and H. Tournaye,‘How successful is TESE-ICSI in couples with non-obstructive azoospermia?’,Hum Reprod, vol. 30, no. 8, pp. 1790–1796, Aug. 2015, doi: 10.1093/humrep/dev139.
[4]H. Li, C. Wu, X. Gu, and C. Xiong,‘A novel application of cell-free seminal mRNA: non-invasive identification of the presence of germ cells or complete obstruction in men with azoospermia’, Hum Reprod, vol. 27, no. 4, pp. 991–997, Apr. 2012, doi: 10.1093/humrep/der481.
[5]Q. Yu, X. Gu, X. Shang, H. Li, and C. Xiong, ‘Discrimination and characterization of Sertoli cell-only syndrome in non-obstructive azoospermia using cell-free seminal DDX4’, Reprod Biomed Online, vol. 33, no. 2, pp. 189–196, Aug. 2016, doi: 10.1016/j.rbmo.2016.05.001.
[6]P. J. Turek and M. H. Johnson, ‘A seminal molecular marker for sperm presence in non-obstructive azoospermia?’, Reprod Biomed Online, vol. 33, no. 2, pp. 119–120, Aug. 2016, doi: 10.1016/j.rbmo.2016.06.004.
[7]W. P. A. Boellaard, H. Stoop, A. J. M. Gillis, J. Wolter. Oosterhuis, and L. H. J. Looijenga,‘VASA mRNA (DDX4) detection is more specific than immunohistochemistry using poly- or monoclonal antibodies for germ cells in the male urogenital tract’, Medicine (Baltimore), vol. 96, no. 30, p. e7489, Jul. 2017, doi: 10.1097/MD.0000000000007489.
[8]Y. M. Lin, P. L. Kuo, Y. H. Lin, Y. N. Teng, and J. S. Nan Lin, ‘Messenger RNA transcripts of the meiotic regulator BOULE in the testis of azoospermic men and their application in predicting the success of sperm retrieval’, Hum Reprod, vol. 20, no. 3, pp. 782–788, Mar. 2005, doi: 10.1093/humrep/deh647.
[9]Y. Dai, X. Kong, C. Yao, X. Gu, C. Xiong, and H. Li, ‘Screening cell-free seminal mRNAs for non-invasive identification of early maturation arrest and prediction of testicular sperm retrieval in men with non-obstructive azoospermia’, Clinical Chemistry, 2021.