克兰费尔特综合征患者的不育症：精子和睾丸组织冷冻保存的最佳时机
Infertility in Patients With Klinefelter Syndrome: Optimal Timing for Sperm and Testicular Tissue Cryopreservation.
作者信息
Hawksworth Dorota J, Szafran April A, Jordan Philip W, Dobs Adrian S, Herati Amin S
机构信息
Department of Urology, Johns Hopkins Medical Institutions Baltimore, MD.
Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University Baltimore, MD.
出版信息
Rev Urol. 2018;20(2):56-62. doi: 10.3909/riu0790.
Abstract
Male factor infertility is a complex issue presenting many diagnostic and management challenges. It is responsible for about 50% of all causes of infertility and thus carries significant medical, financial, and psychological implications for the couples struggling with conception. Klinefelter syndrome is the most common chromosomal male anomaly associated with male infertility. This review focuses specifically on non-obstructive azoospermia secondary to Klinefelter syndrome and discusses controversies surrounding fertility management in patients with this genetic disorder.
摘要
男性因素导致的不育是一个复杂的问题，带来了许多诊断和治疗方面的挑战。它约占所有不育原因的50%，因此对那些为受孕而苦苦挣扎的夫妇有着重大的医学、经济和心理影响。克兰费尔特综合征是与男性不育相关的最常见的染色体男性异常。本综述特别关注继发于克兰费尔特综合征的非梗阻性无精子症，并讨论围绕这种遗传性疾病患者生育管理的争议。
相似文献
1
Infertility in Patients With Klinefelter Syndrome: Optimal Timing for Sperm and Testicular Tissue Cryopreservation.克兰费尔特综合征患者的不育症：精子和睾丸组织冷冻保存的最佳时机
Rev Urol. 2018;20(2):56-62. doi: 10.3909/riu0790.
2
The feasibility of fertility preservation in adolescents with Klinefelter syndrome.青春期克莱恩费尔特综合征患者生育力保存的可行性。
Hum Reprod. 2013 Jun;28(6):1468-79. doi: 10.1093/humrep/det084. Epub 2013 Mar 28.
3
Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome.克兰费尔特综合征与生育能力：不应为克兰费尔特综合征患儿提供精子保存服务。
Hum Reprod. 2016 Sep;31(9):1952-9. doi: 10.1093/humrep/dew179. Epub 2016 Jul 13.
4
[48,XXYY men with azoospermia: how to manage infertility?].[患有无精子症的48,XXYY男性：如何治疗不育症？]
Gynecol Obstet Fertil. 2014 Jul-Aug;42(7-8):528-32. doi: 10.1016/j.gyobfe.2014.05.009. Epub 2014 Jun 13.
5
[Infertility treatment in men with Klinefelter syndrome].[克兰费尔特综合征男性的不育治疗]
Tidsskr Nor Laegeforen. 2008 May 29;128(11):1281-3.
6
[Microdissection testicular sperm extraction for non-obstructive azoospermia].[显微外科睾丸精子提取治疗非梗阻性无精子症]
Zhonghua Nan Ke Xue. 2012 Jun;18(6):551-5.
7
Cryobiology in human assisted reproductive technology. Would Hippocrates approve?人类辅助生殖技术中的低温生物学。希波克拉底会赞同吗？
Early Pregnancy (Cherry Hill). 2001 Jul;5(3):211-3.
8
Outcome of intracytoplasmic sperm injection cycles with fresh testicular spermatozoa obtained on the day of or the day before oocyte collection and with cryopreserved testicular sperm in patients with azoospermia.卵母细胞采集当天或前一天获取的新鲜睾丸精子和冷冻睾丸精子行卵胞浆内单精子注射周期的结局在非梗阻性无精子症患者中的比较。
Fertil Steril. 2013 Oct;100(4):975-80. doi: 10.1016/j.fertnstert.2013.06.031. Epub 2013 Jul 25.
9
Sperm retrieval rate and pregnancy rate in infertile couples undergoing in-vitro fertilisation and testicular sperm extraction for non-obstructive azoospermia in Hong Kong.香港非梗阻性无精子症不育夫妇接受体外受精和睾丸精子提取时的取精率和妊娠率
Hong Kong Med J. 2016 Dec;22(6):556-62. doi: 10.12809/hkmj154710. Epub 2016 Sep 30.
10
Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?2009 年，非嵌合型克氏综合征男性是否应被贴上“不育”标签？
Hum Reprod. 2010 Mar;25(3):588-97. doi: 10.1093/humrep/dep431. Epub 2010 Jan 19.
引用本文的文献
1
A systematic review of core outcomes reported in boys and men with Klinefelter syndrome.对克兰费尔特综合征男性患者所报告的核心结局的系统评价。
Endocrine. 2025 Aug 16. doi: 10.1007/s12020-025-04376-8.
2
Perspectives From Adolescents and Young Adults With Klinefelter Syndrome on Testosterone Supplementation and Fertility.克兰费尔特综合征青少年及青年对睾酮补充治疗和生育能力的看法
J Endocr Soc. 2025 Jul 23;9(9):bvaf112. doi: 10.1210/jendso/bvaf112. eCollection 2025 Sep.
3
Male Infertility and Reduced Life Expectancy: Epidemiology, Mechanisms, and Clinical Implications.男性不育与预期寿命缩短：流行病学、机制及临床意义
J Clin Med. 2025 Jun 3;14(11):3930. doi: 10.3390/jcm14113930.
4
Effects of Testicular Platelet-Rich Plasma (PRP) Injection on Sperm Parameters in Men with Severe Oligoasthenoteratozoospermia (OAT): A Clinical Evaluation.睾丸富血小板血浆（PRP）注射对严重少弱畸精子症（OAT）男性精子参数的影响：一项临床评估
Int J Fertil Steril. 2024 Jul 13;18(Suppl 1):71-76. doi: 10.22074/ijfs.2024.2011066.1535.
5
Risk Assessment and Optimization for Pregnancy in Patients with Rheumatic Diseases.风湿性疾病患者妊娠的风险评估与优化
Diagnostics (Basel). 2024 Jul 2;14(13):1414. doi: 10.3390/diagnostics14131414.
6
Feasibility of high-frequency ultrasound for seminiferous tubule assessment and correlation of B-mode imaging with pathological findings in the testis in azoospermia.高频超声评估曲细精管的可行性及其与无精子症睾丸组织学的相关性研究。
J Med Ultrason (2001). 2024 Jul;51(3):465-475. doi: 10.1007/s10396-024-01462-8. Epub 2024 May 7.
7
Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.对新生儿队列中的染色体异常进行评估：单中心对 14242 例患者的研究。
J Clin Lab Anal. 2024 Jan;38(1-2):e24997. doi: 10.1002/jcla.24997. Epub 2023 Dec 19.
8
XX Male: Early Detection With Prenatal Testing.XX男性：通过产前检测进行早期诊断。
Cureus. 2023 Nov 17;15(11):e48946. doi: 10.7759/cureus.48946. eCollection 2023 Nov.
9
The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes.克莱恩费尔特综合征与睾丸精子获取结局。
Genes (Basel). 2023 Mar 4;14(3):647. doi: 10.3390/genes14030647.
10
The Evidence for Fertility Preservation in Pediatric Klinefelter Syndrome.小儿克兰费尔特综合征生育力保存的证据
Front Reprod Health. 2021 Aug 3;3:629179. doi: 10.3389/frph.2021.629179. eCollection 2021.
本文引用的文献
1
Fertile offspring from sterile sex chromosome trisomic mice.不育性染色体三体小鼠的可育后代。
Science. 2017 Sep 1;357(6354):932-935. doi: 10.1126/science.aam9046. Epub 2017 Aug 17.
2
Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis.克氏综合征患者精子获取和卵胞浆内单精子注射治疗结局：系统评价和荟萃分析。
Hum Reprod Update. 2017 May 1;23(3):265-275. doi: 10.1093/humupd/dmx008.
3
Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis.克氏综合征患者生精功能低下的睾丸转录组调节。
Sci Rep. 2017 Mar 31;7:45729. doi: 10.1038/srep45729.
4
Impact of fresh versus cryopreserved testicular sperm upon intracytoplasmic sperm injection pregnancy outcomes in men with azoospermia due to spermatogenic dysfunction: a meta-analysis.生精功能障碍导致无精子症患者行卵胞浆内单精子注射妊娠结局：新鲜 versus 冻存睾丸精子的影响：一项荟萃分析。
Fertil Steril. 2014 Feb;101(2):344-9. doi: 10.1016/j.fertnstert.2013.10.012. Epub 2013 Dec 9.
5
Medical management of non-obstructive azoospermia.非梗阻性无精子症的医学治疗。
Clinics (Sao Paulo). 2013;68 Suppl 1(Suppl 1):75-9. doi: 10.6061/clinics/2013(sup01)08.
6
47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management.47,XXY 克氏综合征：临床特征及特定年龄段的医学管理建议。
Am J Med Genet C Semin Med Genet. 2013 Feb 15;163C(1):55-63. doi: 10.1002/ajmg.c.31349. Epub 2013 Jan 23.
7
Altered hematopoiesis in trisomy 21 as revealed through in vitro differentiation of isogenic human pluripotent cells.唐氏综合征患者通过同源人多能干细胞体外分化揭示的造血异常。
Proc Natl Acad Sci U S A. 2012 Oct 23;109(43):17567-72. doi: 10.1073/pnas.1215468109. Epub 2012 Oct 8.
8
HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity.HORMAD2 通过募集 ATR 活性对于减数分裂前期的联会监测是必不可少的。
Genes Cells. 2012 Nov;17(11):897-912. doi: 10.1111/gtc.12005. Epub 2012 Oct 8.
9
The genetic origin of Klinefelter syndrome and its effect on spermatogenesis.克氏综合征的遗传起源及其对精子发生的影响。
Fertil Steril. 2012 Aug;98(2):253-60. doi: 10.1016/j.fertnstert.2012.06.019. Epub 2012 Jun 29.
10
Klinefelter syndrome: an argument for early aggressive hormonal and fertility management.克莱恩费尔特综合征：早期积极的激素和生育管理的理由。
Fertil Steril. 2012 Aug;98(2):274-83. doi: 10.1016/j.fertnstert.2012.06.001. Epub 2012 Jun 23.
Zotero 插件