Semen Cytology Analysis With Serum Testosterone On Fertility Assessment In Patients With Klinefelter Syndrome

Objective: Using semen cytology examination and clinical characters of KS patients,to aim at evaluating the possibility of the sperm detection before biopsy, to avoidunnecessary damaged from needle biopsy, to provide experimenyal basis forassisted reproduction of KS patients.Methods: From September2008to September2012,2034cases of male infertilitypatients， who come to treatment in the Hospitals of Jilin University.164cases ofKS patients were confirmed with KS after Karyotype analysis (age from21to42years old). Other control group of80cases of normal fertile men (aged from24to37years old) and the second control group of88cases of normal karyotype infertilemale (aged from21to45years old) were involve in this study. WLJY-9000Weilicolor sperm quality inspection system for sperm conentration, vitality and motionparameters analysis. Diff-quick staining analysis for spermatogenic cells, andelectrochemiluminescence for serum reproductive hormone levels, Fluorescence insitu hybridization for semen cells of sex-chromosome aneuploidy. Multiplex PCRdetection for Y chromosome microdeletions, and electrochemiluminescence forserum reproductive hormone levels. SPSS17.0software for statistical analysis.Results are as follows:1.164cases of KS patients were detected from2034cases of infertile men,including151cases of nonmosaic KS males (92.1%),7cases of mosaic KSmales (4.2%), and6cases of derivative KS males (3.7%). 2. Serum FSH, LH levels of151cases of nonmosaic KS were significantly higherthan normal fertility group and normal karyotype infertility group; and serum Tlevels were significantly lower than normal fertility group and normal karyotypeinfertility group.3. The sperm detection rate of nonmosaic KS patients was6.6%(10/151), but afterusing spermatogenic cytology, the detection rate increased to21.2%(32/151).4. Comparison that clinical characteristics between32cases of KS males withsperm and119cases without sperm, age and serum T levels difference weresignificant statistically (P<0.05). ROC curve analysis found that serum T levelhave power to predict whether sperm in semen.5. Fluorescence in situ hybridization were performed on sertoli cells ofsex-chromosome aneuploidy in one nonmosaic KS patients, sertoli cells weremosaic47,XXY/46,XY.6.151cases of nonmosaic KS patients were not detected in Y chromosomemicrodeletions.6cases of derivative KS males were not detected in Ychromosome microdeletions. Only one patients with mosaic KS was detected inY chromosome microdeletions, the karyotype is47,XX,del(Y)(q11)/46,XX, thedeletion STS were SY152, SY254, SY255, SY157in AZFc region.7.41cases of KS patients were underwent fertility follow-up, only12.2%(5/41)patients got healthy offsprings through ART (AID),36.6%(15/41) of patientswilling to accept AID to obtain offspring,22.0%(9/41) of patients unwilling toaccept AID,29.2%(12/41) of patients without fertility desire..8. The KS parents child-bearing age of83cases of nonmosaic KS were older thanthe normal karyotype infertile men by statistical analysis (P<0.05).Conclusions:1. Semen analysis and semen cytology examination in combination could improvethe detection probability of sperm in patients with Klinefelter syndrome. 2. The remnants of spermatogenesis of KS patients can be progressively decreasedwith age, it is recommended that patients with earlier diagnosis and treatment.3. Semen cytology examination with serum testosterone levels in patients withKlinefelter syndrome has certain ability to predictive power in detecting sperm.