Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility

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• 作者：Inge Ahlmann Olesen ; M.D. ; Ph.D.^a ; ^{iao@dadlnet.dk} ; Anna-Maria Andersson ; Ph.D.^a ; Lise Aksglaede ; M.D. ; Ph.D.^b ; Niels Erik Skakkebaek ; M.D. ; D.M.Sc.^a ; Ewa Rajpert&ndash ; de Meyts ; M.D. ; D.M.Sc.^a ; Niels Joergensen ; M.D. ; Ph.D.^a ; Anders Juul ; M.D. ; D.M.Sc.^a
• 关键词：Male infertility ; testicular dysgenesis syndrome (TDS) ; chromosome abnormalities ; Y-chromosome microdeletions ; testicular cancer
• 刊名：Fertility and Sterility
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：107
• 期：1
• 页码：74-82.e7
• 全文大小：1810 K
• 卷排序：107

文摘

To study the pathologic findings among men evaluated for infertility.DesignA retrospective, single-center, cross-sectional study.SettingUniversity hospital–based research center.Participant(s)We included data from 1,213 medical records from infertile men referred for diagnostic work-up from 2005 to 2009.Interventions(s)None.Main Outcome Measure(s)Health history, clinical findings, chromosome/genetic aberrations, semen quality, reproductive hormones.Result(s)In total, 64.4% of the infertile men had one or more reproductive disorders or factors influencing fertility, leaving 35.6% diagnosed as idiopathic infertile. In 244 patients (20%), including seven cases of testicular cancer and/or germ cell neoplasia in situ, a pathologic finding was first detected during diagnostic work-up. Two hundred four patients (16.8%) had a history of cryptorchidism and 154 (12.7%) of varicocele (grade 2 and 3). Thirty-three patients had chromosomal abnormalities, including 16 with sex chromosome abnormalities (11 with 47,XXY). Y-chromosome microdeletions were detected in 65 patients (5.4%). One hundred thirty-three had azoospermia, of which 58 had testicular biopsy findings (Sertoli cell–only syndrome: n = 23; spermatogenic arrest: n = 7; impaired spermatogenesis and atrophy: n = 28). Additionally, in idiopathic infertile men and infertile men with additional symptoms of testicular dysgenesis syndrome, 22.5% presented with a degree of Leydig cell insufficiency, with the highest frequency (33.1%) among patients with sperm concentration <5 million/mL.Conclusion(s)We report pathologic findings that could explain the male-factor infertility in two-thirds of infertile men referred to our center. Thus, male infertility may be a sign of an underlying disease that warrants attention.