Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India
Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India
复制标题
DOI：
10.1002/jcla.20216
复制
发表时间：
2008-01-01
影响因子：
2.7
通讯作者：
Gokral, Jyotsna
中科院分区：
文献类型：
--
作者：
Abid, Shadaan;Maitra, Anurupa;Gokral, Jyotsna
近年来，不孕症的遗传基础已获得越来越多的认识，尤其是随着辅助生殖技术的出现。现在，显而易见的是，对不育的遗传病因是造成精子发生破坏的重要原因。 Y染色体微缺失和异常核型是精子发生改变的两个主要原因。为了实现生物学父亲，在有或没有遗传异常的严重不育症的情况下，进行了胞质内精子注射（ICSI）。人们担心这些遗传异常可以传递给男性后代，后者随后可能具有不育的更严重的表型。总共招募了200名男性进行临床检查，精子图，激素特征以及细胞遗传学和YQ微骨骼特征。尽可能进行睾丸活检并进行组织学评估。在7.1％的病例中发现了遗传异常，其中4.1％的染色体畸变，即Klinefelter的马赛克（47xxy）和罗伯逊式易位，而3.0％的YQ微型缺乏，与其他种群相比，这非常低。与严重的少突性少脂性植物学（P <0.0001）相比微缺失（p <0.0083）。微缺失男性的雄激素水平较低表明需要对早期的雄性植物进行跟踪。与没有缺失的受试者相比，具有微缺失的患者具有更严重的睾丸组织学。我们的研究表明，NOA男性的血清抑制剂B值显着降低（p <0.002），而与患有严重的寡脂质体（SOA）相比，FSH被认为明显更高。在NOA的情况下，生殖细胞显着损害，并在SOAS中部分影响。因此，总体抑制素B与血清FSH结合使用将比单独的血清FSH更好地标记，对于精子发生受损。鉴于具有特发性严重的低质体和NOA病例的不育男性的遗传和荷尔蒙异常，这些病例是ICSI的潜在候选者，因此提倡Y染色体显微肌肉型，核酸盐和生物化学参数的Y染色体显微运动型基因检测。
The genetic basis of infertility has received increasing recognition in recent years, particularly with the advent of assisted reproductive technology. It is now becoming obvious that genetic etiology for infertility is an important cause of disrupted spermatogenesis. Y-chromosome microdeletions and abnormal karyotype are the two major causes of altered spermatogenesis. To achieve biological fatherhood, intracytoplasmic sperm injection (ICSI) is performed in cases of severe infertility with or without genetic abnormalities. There is a concern that these genetic abnormalities can be transmitted to the male progeny, who may subsequently have a more severe phenotype of infertility. A total of 200 men were recruited for clinical examinations, spermiograms, hormonal profiles, and cytogenetic and Yq microdeletion profiles. Testicular biopsy was also performed whenever possible and histologically evaluated. Genetic abnormalities were seen in 7.1% of cases, of which 4.1% had chromosomal aberrations, namely Klinefelter's mosaic (47XXY) and Robertsonian translocation, and 3.0% had Yq microdeletions, which is very low as compared to other populations. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) were significantly increased in men with nonobstructive azoospermia (NOA) as compared to severe oligoasthenozoospermia (P < 0.0001), whereas testosterone levels were significantly decreased in men with microdeletions as compared to men with no microdeletions (P < 0.0083). Low levels of androgen in men with microdeletions indicate a need to followup for early andropause. Patients with microdeletions had more severe testicular histology as compared to subjects without deletions. Our studies showed a significant decrease (P < 0.002) in the serum inhibin B values in men with NOA, whereas FSH was seen to be significantly higher as compared to men with severe oligoasthenozoospermia (SOAS), indicating that both the Sertoli cells as well the germ cells were significantly compromised in cases of NOA and partially affected in SOAS. Overall inhibin B in combination with serum FSH would thus be a better marker than serum FSH alone for impaired spermatogenesis. In view of the genetic and hormonal abnormalities in the group of infertile men with idiopathic severe oligozoospermia and NOA cases, who are potential candidates for ICSI, genetic testing for Y-chromosome microdeletions, karyotype, and biochemical parameters is advocated.