180例无精子症或严重少精子症不育男性的Y染色体微缺失检测

目的探讨不育男性无精子症或严重少精子症与Y染色体微缺失之间的关系.方法利用9个Y染色体特异序列标签位点,以多重PCR法检测无精子症或严重少精子症患者的Y染色体微缺失情况.结果 180例无精子症或严重少精子症患者中共检出Y染色体微缺失15例,缺失率为8.3%.精液正常者(对照组)20例未发现Y染色体微缺失.9例Y染色体微缺失的无精子症患者睾丸细胞学检查均未发现精子.结论 Y染色体微缺失是造成男性精子发生障碍的常见病因之一.     

睾丸大小测量在无精子症诊断中的意义

本文对62例无精子症患者及15例具生育力男子的睾丸体积进行了测量,并研究其与睾丸内分泌指标及病理变化间的相关性。结果表明特发性无精子症患者睾丸体积明显减小,而且睾丸大小与血清FSH、LH、T及睾丸病理DMPS评分显著相关。提示睾丸体积测量在临床物理诊断中具有重要的意义。     

A 46,XX SRY-negative man with complete virilization and infertility as the main anomaly

OBJECTIVE: To report a case of a 46,XX SRY-negative man with a male phenotype and azoospermia. DESIGN: Case report. SETTING: Molecular and Cytogenetic Unit in a University Hospital. PATIENT(S): A 35-year-old man with complete masculinization who referred to our institution because of a history of several years of infertility. INTERVENTION(S): Lymphocytic karyotype and genetic counseling. MAIN OUTCOME MEASURE(S): Peripheral blood metaphases were analyzed by standard G-banding and Q-banding. Fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) analyses were performed. RESULT(S): Semen analysis showed azoospermia. Chromosome analysis revealed a 46,XX karyotype; molecular and cytogenetic analyses excluded the presence of SRY (the sex-determining region of the Y chromosome) gene. CONCLUSION(S): This case is one of the rare patients reported in the literature in whom testicular differentiation and a complete virilization in a 46,XX chromosomal constitution does not account for a translocation of the SRY gene to the X chromosome or to the autosomes. This finding suggests that other genes downstream from SRY, not yet identified, play an important role in sex determination.     

Psychogenic factors in some genetic and non-genetic forms of infertility

Five categories of patients suffering from different genetic and non-genetic forms of infertility and three categories of similarly affected, but potentially fertile, clinically normal individuals were studied. The Eysenck's Personality Inventory (1964), Ryle's Marital Patterns Test (1966) and Leckie and Wither's Inventory for Depressive Illness (1967) were used to determine the role played by psychogenic factors in causing infertility. No significant quantitative or qualitative differences were observed in the various groups studied. The psychogenic disturbances present in these individuals appear to be the result of the effect of persisting infertility rather than the cause of it.     

无精子症及极少精子症的Y染色体AZF区域微缺失临床分布特征的研究

目的研究男性无精子症、极少精子症患者的AZF区域微缺失的临床分布特征。方法应用细胞遗传学和多重聚合酶链反应技术,对100例特发性无精子症及极少精子症患者的AZF区域微缺失进行筛查。结果100例患者中,发生AZF区域微缺失的患者13例（13%）。其中无精子症组68例,AZF微缺失6例（7.35%）;严重少精子症组32例,AZF微缺失7例（2.19%）。AZF微缺区c区和d区发生缺失率显著高于a区和b区。结论AZF微缺失和染色体异常是引起男性不孕的主要原因之一。     

Mast cells in testicular biopsies of azoospermic men

This work aimed at identifying mast cells in testicular biopsies from 10 normal fertile controls, 20 patients with obstructive azoospermia and 70 patients with nonobstructive azoospermia. The biopsies were stained with haematoxylin and eosin stain for tubular-modified Johnson score and with toluidine blue stain for mast cells. Two populations of mast cells, peritubular and interstitial, were demonstrated in all sections with varied counts. Testicular sections with Sertoli cell only and spermatogenic arrest patterns demonstrated a significant increase in both peritubular and interstitial mast cells compared with other groups, whereas obstructive azoospermia demonstrated a nonsignificant increase compared with the controls. Mast cell count was significantly correlated negatively with Johnson score for both peritubular (P = 0.001) and interstitial (P = 0.001) populations. Whether these results could be a cause or an effect, a special role might be assigned to mast cells in the pathogenesis of disturbed spermatogenesis.     

Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest

Genetic mechanisms are implicated as a cause of some male infertility, yet are poorly understood. Mouse meiotic mutant mei1 (meiosis defective 1) was isolated by a screening of infertile mice. Male mei1 mice have azoospermia due to meiotic arrest, and the mouse Mei1 gene is responsible for the mei1 phenotype. To investigate whether human MEI1 gene defects are associated with azoospermia by meiotic arrest, we isolated the human MEI1 cDNA based on the mouse Mei1 amino acid sequence. MEI1 is expressed specifically in the testis. Mutational analysis by direct sequencing of all MEI1 coding regions was performed in 27 men (13 European Americans, 13 Israeli and 1 Japanese) having azoospermia due to complete early meiotic arrest. This identified four novel, coding single-nucleotide-polymorphisms (cSNPs), i.e., SNP1 (T909G), SNP2 (A1582G), SNP3 (C1791A) and SNP4 (C2397T) in exons 4, 8, 9 and 14, respectively. Using these cSNPs, an association study was carried out between 26 non-Japanese patients with azoospermia and two sets of normal control men (61 normal European Americans and 60 Israelis). Consequently, SNP3 and SNP4 were shown to be associated with azoospermia among European Americans (P =0.0289 and P =0.0299 for genotype and allele frequencies at both the polymorphic sites, respectively), although no such association was observed among Israelis (P >0.05). Haplotype estimation revealed that the frequencies of SNP3–SNP4 (C–T), SNP3–SNP4 (A–C) and SNP3–SNP4 (A–T) were higher in the European American patients, and the frequency of SNP3–SNP4 (A–T) was also higher than in both control groups. These results suggest that MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans.     

6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development

We report on a healthy man with high normal intelligence, minor dysmorphic features and infertility due to hypogonadism and azoospermia. Cytogenetic analysis showed a 6.7 Mb duplication in chromosome band 11q24.2q25, which could be confirmed with FISH and molecular karyotyping using an Affymetrix GeneChip Human Mapping 250 K Nsp SNP array.     

睾丸穿刺取精行卵胞浆内单精子注射的临床结局

目的:观察卵胞浆内单精子注射(ICSI)使用经皮睾丸穿刺取精(PTSA)、PTSA后冷冻精子及体外射出精子的临床结局.方法:对2009年2-12月接受ICSI治疗的168个周期进行回顾性分析.168个周期分为3组,体外射精组95个周期,PTSA组41个周期,PTSA后冷冻精子组32个周期.对这3组的受精、胚胎、妊娠情况...