小丫 发表于 2006-8-30 10:03:33

男性不育症研究的现状、前沿与争论

<p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt"><b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">作者: 上海协和医院 王益鑫<span lang="EN-US"><p /></span></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 90pt; mso-line-height-alt: 0pt; mso-char-indent-count: 10&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt; mso-layout-grid-align: none"><b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">一、前言<span lang="EN-US"><p /></span></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt; mso-layout-grid-align: none"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt; mso-layout-grid-align: none"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">随着社会工业的不断发展,不育夫妇的总发病率明显升高,约占育龄夫妇的<span lang="EN-US">10-15%。其中男女方原因各占40%,双方原因约占20%。男性原因引起不育的比例明显升高,其中相当一部分以往被认为是无法治疗的,如无精子症等。近十年来因分子生物学的进展及显微操作技术的应用使男性不育症在诊断与治疗方面有了很大的进展,特别是单精子卵胞浆内注射(ICSI)技术的发明,因其成功率高又不受精子参数的影响,为男性不育症的诊断和治疗开创了新的领域。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt; mso-layout-grid-align: none"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt"><b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">二、发病率和病因<span lang="EN-US"><p /></span></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; TEXT-ALIGN: left; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt; mso-pagination: widow-orphan" align="left"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; TEXT-ALIGN: left; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt; mso-pagination: widow-orphan" align="left"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">2003年欧洲生殖协会统计:育龄夫妇</span><span style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt">一年内不能怀孕者</span><span lang="EN-US" style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt; mso-bidi-font-family: Arial">25%,</span><span style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt">其中</span><span lang="EN-US" style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt; mso-bidi-font-family: Arial">15%</span><span style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt">寻求治疗,男性不育占</span><span lang="EN-US" style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt; mso-bidi-font-family: Arial">50%。</span><span style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt">病因不明者占</span><span lang="EN-US" style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt; mso-bidi-font-family: Arial">60-75%,</span><span style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt">精索静脉曲张占</span><span lang="EN-US" style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt; mso-bidi-font-family: Arial">12&#46;3%,</span><span style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt">泌尿生殖道感染</span><span lang="EN-US" style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt; mso-bidi-font-family: Arial">6&#46;6%,其他为染色体异常、先天性发育异常等。</span><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">根据疾病和因素干扰或影响生殖环节的不同,分为睾丸前、睾丸和睾丸后三个环节,见表<span lang="EN-US">1。<a name="_Ref506785285"><p /></a></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt"><span style="mso-bookmark: _Ref506785285"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 35&#46;95pt; mso-line-height-alt: 0pt; mso-char-indent-count: 3&#46;98; mso-char-indent-size: 9&#46;0pt"><span style="mso-bookmark: _Ref506785285"><b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">表 <span lang="EN-US"><span style="mso-field-code: 'SEQ 表 * ARABIC'">1</span></span></span></b></span><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> </span></b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"><span style="mso-spacerun: yes"></span><b>男子不育按生殖环节的病因分类<p /></b></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><table style="BORDER-RIGHT: medium none; BORDER-TOP: medium none; BORDER-LEFT: medium none; BORDER-BOTTOM: medium none; BORDER-COLLAPSE: collapse; mso-table-layout-alt: fixed; mso-border-top-alt: solid windowtext &#46;75pt; mso-border-bottom-alt: solid windowtext &#46;5pt; mso-padding-alt: 0cm 5&#46;4pt 0cm 5&#46;4pt" cellspacing="0" cellpadding="0" border="1"><tbody><tr><td style="BORDER-RIGHT: #ebe9ed; PADDING-RIGHT: 5&#46;4pt; BORDER-TOP: windowtext 0&#46;75pt solid; PADDING-LEFT: 5&#46;4pt; PADDING-BOTTOM: 0cm; BORDER-LEFT: #ebe9ed; WIDTH: 108pt; PADDING-TOP: 0cm; BORDER-BOTTOM: windowtext 0&#46;5pt solid; BACKGROUND-COLOR: transparent" valign="top" width="144"><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">睾丸前病因<span lang="EN-US"><p /></span></span></b></p></td><td style="BORDER-RIGHT: #ebe9ed; PADDING-RIGHT: 5&#46;4pt; BORDER-TOP: windowtext 0&#46;75pt solid; PADDING-LEFT: 5&#46;4pt; PADDING-BOTTOM: 0cm; BORDER-LEFT: #ebe9ed; WIDTH: 135pt; PADDING-TOP: 0cm; BORDER-BOTTOM: windowtext 0&#46;5pt solid; BACKGROUND-COLOR: transparent" valign="top" width="180"><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">睾丸性病因<span lang="EN-US"><p /></span></span></b></p></td><td style="BORDER-RIGHT: #ebe9ed; PADDING-RIGHT: 5&#46;4pt; BORDER-TOP: windowtext 0&#46;75pt solid; PADDING-LEFT: 5&#46;4pt; PADDING-BOTTOM: 0cm; BORDER-LEFT: #ebe9ed; WIDTH: 117pt; PADDING-TOP: 0cm; BORDER-BOTTOM: windowtext 0&#46;5pt solid; BACKGROUND-COLOR: transparent" valign="top" width="156"><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">睾丸后病因<span lang="EN-US"><p /></span></span></b></p></td></tr><tr><td style="BORDER-RIGHT: #ebe9ed; PADDING-RIGHT: 5&#46;4pt; BORDER-TOP: #ebe9ed; PADDING-LEFT: 5&#46;4pt; PADDING-BOTTOM: 0cm; BORDER-LEFT: #ebe9ed; WIDTH: 108pt; PADDING-TOP: 0cm; BORDER-BOTTOM: windowtext 0&#46;5pt solid; BACKGROUND-COLOR: transparent" valign="top" width="144"><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">1)下丘脑病变:Kallmann氏综合症、选择性LH缺陷症、选择性FSH缺陷症、先天性低促性腺激素综合症<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">2)垂体病变:垂体功能不全、高催乳素血症<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">3)外源性或内源性激素水平异常:雌激素/雄激素过多、糖皮质激素过多、甲状腺机能亢进或减退<p /></span></p></td><td style="BORDER-RIGHT: #ebe9ed; PADDING-RIGHT: 5&#46;4pt; BORDER-TOP: #ebe9ed; PADDING-LEFT: 5&#46;4pt; PADDING-BOTTOM: 0cm; BORDER-LEFT: #ebe9ed; WIDTH: 135pt; PADDING-TOP: 0cm; BORDER-BOTTOM: windowtext 0&#46;5pt solid; BACKGROUND-COLOR: transparent" valign="top" width="180"><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">1)先天性异常:Klinefelter氏综合症、Y染色体缺陷、纤毛不动综合症、隐睾<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">2)感染性(睾丸炎)<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">3)理化因素及环境因素、发热、化疗、放疗、药物、饮食<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">4)全身性疾病<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">5)损伤、手术<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">6)血管因素、精索静脉曲张、睾丸扭转<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">7)免疫性<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">8)特发性不育<p /></span></p></td><td style="BORDER-RIGHT: #ebe9ed; PADDING-RIGHT: 5&#46;4pt; BORDER-TOP: #ebe9ed; PADDING-LEFT: 5&#46;4pt; PADDING-BOTTOM: 0cm; BORDER-LEFT: #ebe9ed; WIDTH: 117pt; PADDING-TOP: 0cm; BORDER-BOTTOM: windowtext 0&#46;5pt solid; BACKGROUND-COLOR: transparent" valign="top" width="156"><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">1)勃起功能和射精功能障碍<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">2)精子运输障碍①输精管、附睾、精囊发育异常②尿道上裂、尿道下裂③后天性输精管道损伤、炎症<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">3)附性腺疾病:前列腺炎<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">4)精子活动力或功能障碍<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">5)免疫性<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">6)附睾疾病<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; VERTICAL-ALIGN: middle; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">7)特发性<p /></span></p></td></tr></tbody></table><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt"><span lang="EN-US" style="DISPLAY: none; FONT-SIZE: 9pt; COLOR: #333333; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt; mso-bidi-font-family: 'Arial Unicode MS'; mso-hide: all"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">三、辅助生育技术时代男性不育的合理评估</span></b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"><p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 21&#46;75pt; mso-line-height-alt: 0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">3.1男性不育评估的目的</span></b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">:区分引起不育的不同原因给予不同的治疗措施,使患者花费较少的时间和金钱获得较为准确的诊断和合理的治疗。我们可将男性不育大致分为下列几种类型:<span lang="EN-US">1)可纠正的疾病。2)不能纠正的疾病,但能通过辅助生育技术治疗获得生育可能。3)不能纠正的疾病,只能通过领养或AID获得孩子。4)引起不育而且影响身体健康需要其他治疗的疾病。5)使用辅助生育技术将异常基因传递给子代的疾病。在这几类疾病中,第二种情况较为多见,治疗时应区别对待。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 21&#46;75pt; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">不育最初评估的时间应在夫妇间无保护性性生活<span lang="EN-US">1年以上,有些高危因素如男方双侧隐睾、女方年龄大于35岁等可在更短的时间内评估。原发和继发不育男性均应作下列评估:1) 询问详细的生育史(性生活的频度和时间、不育时间和即往生育史、孩子的疾病史和发育史、全身系统疾病史和既往手术史、传染性性疾病史和毒性环境暴露史等)。2) 2次较为准确的精液分析(间隔1个月以上)。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">不育进一步评估的时间在初次评估显示异常的生育史、异常的精子参数或者女方检查无明显异常情况后进行。不育进一步评估的内容包括下列项目:<span lang="EN-US">1)较为全面病史主生殖诊疗史和生殖系统体检。2)至少2次以上合适的精液分析。3)根据需要选用其它试验。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">3.2病史</span></b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">:彻底全面的手术史、过敏史、家族生育史及感染史(包括生殖道和呼吸道感染等)。<span lang="EN-US"><p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 21&#46;75pt; mso-line-height-alt: 0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">3.3体检</span></b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">:检查有无先天性尿道发育异常,测量睾丸体积,注意是否有输精管和附睾的缺失或结节存在,有无精索静脉曲张存在。第二性征如毛发分布、乳房发育等情况。<span lang="EN-US"><p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 21&#46;75pt; mso-line-height-alt: 0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">3.4精液分析</span></b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">:精液分析是男性不育评估的基石,正确的取样也是关键的步骤,标本一般在禁欲<span lang="EN-US">3-5天内手淫法将精液全部收集在特定的玻璃容器内,保温保存,1小时内送检。<b>实验人员对精液标本的处理和分析至关重要。</b>精液参数不是衡量男性不育的唯一指标,精液参数正常者可能不怀孕,同样参数异常者也有可能自然怀孕。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">3.5男性不育的特殊检测</span></b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">:内分泌性激素检测、性交后尿液检测、经直肠<span lang="EN-US">B超、阴囊B超、染色体检测、特殊的精子功能检测试验、基因检测等。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">四、治疗<span lang="EN-US"><p /></span></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">4.1基线怀孕率:<p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">正常夫妇每个月怀孕率<span lang="EN-US">25%,6个月怀孕率75%,1年怀孕率90%,不育10--15%。不治疗的不育夫妇怀孕率25--35%,其中2年内23%,2年后10%,对高龄夫妇不要求一年后评估。所有治疗方法成功率的评估均应考虑基线怀孕率。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">4.2促性腺激素在男性不育治疗中的作用<p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">99年欧洲生殖协会收集数个生殖中心的资料,认为HCG/HMG、高纯HMG及重组FSH治疗性腺激素正常的少弱精病人,不能提高精子参数,亦不能明显提高怀孕率。因此,目前仍没有用FSH或HMG治疗男性特发性不育的实践基础。目前也没有对照性研究显示中药和其它非激素类药物对男性不育症具有特殊疗效。<p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">4.3外科处理<p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">外科预防后天性不育:鞘膜积液、隐睾、青少年精索静脉曲张的手术治疗。<span lang="EN-US"><p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">外科在成年男性不育的帮助治疗作用:精索静脉曲张、隐睾、阴茎畸形、包茎、鞘膜积液等。<span lang="EN-US"><p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">外科获取精子作辅助生育治疗:<span lang="EN-US">MESA(显微外科附睾精子抽吸术)、PESA(经皮附睾穿刺精子抽吸术)、TESE(开放手术睾丸组织提取术)、TESA(经皮睾丸组织抽吸术)。梗阻性无精子症可用PESA或TESA获取精子,这二种方法损伤很小,可多次反复使用。对非梗阻性无精子症的睾丸中精子获取近年来研究报告较多,可行睾丸单点或多点的开放手术睾丸活检(TESE)或经皮穿刺获取睾丸精子(TESA)。因许多研究证实即使FSH升高,睾丸体积较小者,甚至睾丸活检示支持细胞综合征者在睾丸内可有局灶性生精细胞存在,获取的睾丸组织越多检到精子的机会越大,但过多摘取睾丸组织可能会发生如出血、萎缩合并症,获取的精子可直接行ICSI也可冷冻保存备以后行ICSI用。甚至有文献报告用不成熟的圆形精细胞行ICSI而获得成功的怀孕。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">4.4 人类精子库<p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">精子库可以为无精子症患者或少弱精患者提供供精,作他精宫腔内授精;同时为男性不育患者提供生殖保险。<span lang="EN-US"><p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">4.5单精子卵胞浆内注射(ICSI)技术<p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">从<span lang="EN-US">92 年第一个ICSI试管婴儿诞生至今,ICSI技术已被广泛应用于治疗严重男性不育,其受精率和周期临床妊娠率高达65%~85%和30%~50%。其特点为:1、一个成熟卵子只需一条存活精子。2、畸形精子也可受精,因ICSI绕过自然怀孕所需的很多步骤直接达到精卵结合。3、梗阻性或非梗阻性无精症通过PESA、TESE和TESA等方法提取精子可作ICSI。4、ICSI可不考虑精子的完整性或精子的功能,基本不受精子参数影响,各种不同参数、不同来源精子(包括冷冻精子)的受精率和怀孕率几无明显差别(有报道非梗阻性无精症的受精率和怀孕率稍低)。ICSI的指征:绝对指征为常规IVF受精失败2次,使用附睾或睾丸精子,严重少弱精症、顶体缺乏或全部精子不动者。相对指征定为精子参数低于正常,高抗体滴度或常规IVF受精失败1次或不明原因性不育。所有男性因素造成的不育只要有少量活动精子存在(无论精液精子或睾丸附睾精子)均可通过ICSI技术获得生育可能。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">五、展望<span lang="EN-US"><p /></span></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 21pt; mso-line-height-alt: 0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">5.1建立一套较为规范的诊断和治疗程序<p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">由于<span lang="EN-US">ICSI的出现,使得男性不育在诊断和治疗的程序有了很大的变化,特别对无精子症和严重少弱精症,ICSI应成为其治疗首选。目前应建立一套关于无精子症手术获取精子诊断及治疗的程序规范,其目的是让患者承受最少的痛苦而获取最有效的治疗结果。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">5.2分子生物学的应用 <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">分子生物学已广泛应用于各个领域,对男性不育同样重要。先天性两输精管缺如是较多见的梗阻性无精子症的病因,<span lang="EN-US">60%的患者可在7号染色体上发现跨膜传递调节基因(CFTR)的突变,目前已发现的突变已达500种以上。这些人的附睾及睾丸内存在大量的精子,故可行ICSI。在女性中约有4%的人存在囊性纤维化突变基因,故在ICSI前应行CFTR基因重要突变的检测,男女双方同时具有CFTR基因重要突变可能导致后代出现囊性纤维化。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">非梗阻性无精子症为睾丸生精障碍,<span lang="EN-US"> Tiepalo等首先观察到无精子症者Y染色体的长臂{Yq11}有缺损,称为无精子基因(AZF),后被许多研究者所证实。现已在AZF上发现四个互不重叠的缺损片段,分别称为AZFa、b、c、d,在高危人群筛选Y染色体的缺损可提纯周围血白细胞DNA用Y染色体特异性引物进行多重PCR进行检查,在无精子症或严重少精子症中检出率约占8-13%,但目前发现这些缺失影响精子生成或成熟,而不会发生其他健康问题。故对AZF缺失者可行ICSI。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">5.3遗传学诊断的应用<p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">自从辅助生育技术在临床上使用以后,大大改善了不孕不育的治疗效果,<span lang="EN-US">IVF是帮助女性不孕者达到生育目的,而ICSI则是主要用于男性因素引起的不育者,自从1992年Palermo报告ICSI成功之后,已在临床上广泛应用于几乎所有存在精子的男性不育病例,这些患者很可能存在遗传学上的缺陷。由于ICSI的神奇过程可能存在的一些未知结果,人们对ICSI的遗传病问题的高度关注,Schlege复习了近来文献后认为ICSI不会升高出生<a name="OLE_LINK1">婴儿</a>的畸变率,也不会增加早期的流产率,我国近期统计结果显示ICSI/IVF婴儿的出生缺陷率不比自然出生婴儿高,故目前认为ICSI仍是安全的辅助生育技术。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">种植前遗传学诊断(<span lang="EN-US">PGD)是临床胚胎学和细胞分子生物学共同发展的结果。1990年Handyside,对早期胚胎的单个卵裂球作PCR行性别筛选从而避免了X连遗传疾病的伴性遗传。随后,PGD在性别选择、染色体异常和单基因遗传检测方面获得了广泛的应用。PGD是通过极体和胚胎活检后,采用荧光原位杂交(FISH)或单细胞PCR对染色体和基因进行检测,选择无异常基因的胚胎移植回宫腔的过程,PGD应用将大大减少将遗传缺陷传给后代这种危险,使得ICSI技术更为安全。<p /></span></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18&#46;05pt; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt"><b><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">六、男性不育在辅助生育技术的战略地位<span lang="EN-US"><p /></span></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; mso-line-height-alt: 0pt"><b><span lang="EN-US" style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt"> <p /></span></b></p><p class="MsoNormal" style="MARGIN: 0cm 0cm 0pt; TEXT-INDENT: 18pt; TEXT-ALIGN: left; mso-line-height-alt: 0pt; mso-char-indent-count: 2&#46;0; mso-char-indent-size: 9&#46;0pt; mso-pagination: widow-orphan" align="left"><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">从<span lang="EN-US">1978年诞生世界第一例试管婴儿至今,辅助生育技术绝大多数掌握在妇产科医师手中,虽然近年来出现的ICSI技术主要用来治疗男性不育,但</span></span><span style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 16&#46;0pt">男科医生在<span lang="EN-US">ART时代对男性不育症的评估作用未受忽视</span></span><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">。辅助生育技术是临床和实验室紧密结合的学科,参与胚胎实验室工作非常有利于男科临床科研的深入。给男性不育患者最准确的诊断及最合理的治疗是男科医师的职责,而目前男性生殖的研究远远落后与女性生殖的研究,更多的空白有待填补:</span><span style="FONT-SIZE: 9pt; COLOR: black; FONT-FAMILY: 宋体; mso-bidi-font-size: 14&#46;0pt">男性不育评估的规范、外科取精手术的规范和完善、精子功能试验检测和受精生理研究、冷冻精子的研究、种植前遗传学诊断(<span lang="EN-US">PGD)、精子细胞体外成熟培养、试管婴儿的长期随访研究、与其它相关学科的横向联系等。</span></span><span style="FONT-SIZE: 9pt; FONT-FAMILY: 宋体; mso-bidi-font-size: 12&#46;0pt">让每一位男性都拥有“自己”的“健康”的孩子应成为全体男性不育工作者的共同心愿。</span><span style="FONT-SIZE: 9pt; COLOR: white; FONT-FAMILY: 宋体; mso-bidi-font-size: 14&#46;0pt">•</span></p>
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