先天雙側無輸精管(congenital bilateral absence of the vas deferens,簡稱CBAVD)在一般男性的發生率約為1:1600,在罹患囊性纖維症(cystic fibrosis)的男性則為100%。85%的CBAVD男性會出現囊性纖維基因的突變。因此CBAVD被認為是囊性纖維症的生殖器表現形式(genital form)[13]。
隱睪症病人其精蟲分析通常是不正常的:不孕症的病人中,有隱睪症病史的佔了2.9%[31]。通常建議3歲前開刀矯正對於將來精液品質有正面的影響,然而,患有單側隱睪症的人在生兒育女方面與無隱睪症的對照組是幾乎相同的(89.7% vs. 93.7%),而且與在幾歲時接受手術矯正,或手術前睪丸的位置,或原睪丸大小是無關的[32]。但患有雙隱睪症的人,31%會出現有寡精蟲症(oligozoospermia),42%出現無精蟲症(azoospermia),這些雙側隱睪患者,只有35-53%可生兒育女[33]。
11.2
生殖細胞腫瘤(germ cell tumours)
隱睪症是睪丸癌的危險因子,同時跟睪丸的微鈣化(microcalcificafion)及睪丸原位癌(carcinoma in situ)有關。在睪丸癌患者中,有5~10%曾經有隱睪症病史[34]。患有隱睪症的人有較高的風險發生生殖細胞癌及生育障礙:2~6%隱睪症病人及0.5~1%不孕症病人會發展出睪丸腫瘤[34]。
發育不全的睪丸(dysgenic testes)在患者長大成人後會增加睪丸癌的風險,這些癌症似乎源自於致癌傾向的(pre-malignant)生殖細胞(gonocytes)或原位癌細胞(carcinoma in situ (CIS) cells)[35]。睪丸細石症(microlithiasis)可能與生殖細胞腫瘤和睪丸原位癌有關。
有許多經驗療法曾被嘗試用於治療男性不孕症(表3),但這些療法較缺乏有說服力的其科學證據。所有藥物試驗分析所用的標準經重新評估後得到的共識是:只有使用隨機控制的臨床試驗而且以懷孕率為結果的參考指標才是可靠的療效分析。對於血中FSH與inhibin B值正常的原因不明的寡精蟲症患者,採用基因重組的人類FSH荷爾蒙(recombinant human FSH)來增進造精作用的前景仍是一項具爭議性的選擇,需要進一步研究來證明。
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