Association Study Of The Digit Ratios Of Azoospermia With The AR Gene, SHBG Gene Polymorphism

Objective Analyzing the basic clinical data and digit ratios of azoospermia, comparechromosome/Y chromosome microdeletion screening, testicular volume, reproductivehormone levels, between obstructive azoospermia and non-obstructive, exploring the digitratios distribution of azoospermia, is aim to provide theoretical basis for early diagnosis andtreatment of azoospermia.Methods196cases of patients was diagnosed as azoospermia in three consecutivetimes during April2008-July2013in Center of Reproductive Medicine,General Hospitalof Ningxia Medical University. Do general physical examination,male checking, reproductivehormones, gonad Ultrasonography chromosome/Y chromosome microdeletion screening,some patients with testis/epididymis puncture checks and records relevant results. There were168cases of finger length data.98patients of control group treated in the Hospital during thesame time were semen normal healthy men. Digit lengths of the fingers were measured fromphotocopies of the ventral surface of the hand and by actual finger measurements. To analysisthe basic clinical data,compare chromosome/Y chromosome microdeletionscreening,testicular volume, reproductive hormone levels and digit ratios between obstructiveazoospermia and non-obstructive azoospermia.Results1There are26(13.3%) azoospermia patients of chromosomal polymorphicand abnormalities.In OA group, there were three cases of chromosomal polymorphism, karyotypes were46,XY,Y≈18, the rest chromosomal abnormalities and polymorphic andbelongs to the NOA group.2BMI, E2, PRL were not significantly different between the obstructive azoospermiaand non-obstructive azoospermia group(t=1.187,0.198,0.740，P＞0.05), and the differences oftesticular volume, FSH, LH, T between the two groups were statistically significant (t=0.000,P＜0.05).3The left2D:3D,2D:4D between azoospermia and the control group was significantdifferent(t=0.008,0.046，P<0.05), the rest were not statistically different.4The digit ratios between OA and NOA group had no significant difference (P>0.05).Conclusion1Chromosomal abnormality and polymorphic is one of the majorgenetic cause of azoospermia.2Testicular volume and reproductive hormones contribute to the diagnosis of patientswith azoospermia.3The digit ratios of azoospermia especially the low left hand2D:3D and2D:4D maybe the one of important reference index of assessing early risk. Obiective Analysising the first exon of AR gene CAG polymorphism and SHBGgene promoter (TAAAA)n polymorphism of azoospermia, polymorphism and digit ratios,isaim to investigate the association between gene polymorphism and male spermatogenesisobstacles, gene polymorphism and gene digit ratios.Methods ABI3730XL sequencer was used to determine the AR gene CAG and SHBGgene promoter (TAAAA)n polymorphism. Comparing the distribution differences of the firstexon of the AR gene CAG polymorphism, SHBG gene promoter (TAAAA)n polymorphismbetween azoospermia and normal control group,OA and NOA group. Comparing digit ratiosbetween short and long repeated groups of the first exon of the AR gene CAG, SHBG genepromoter.Results1The mean CAG polymorphism between azoospermia group and the controlgroup were22.89±2.54and22.23±3.17,the difference was not statistically significant(t=1.456；P=0.147). CAG repetitions with n=22as the dividing point,the two group weredivided into short repeat polymorphism (n<22) and long repeat polymorphism (n≥22). Theshort polymorphism of the azoospermia was more than the long repeat polymorphism, but thedistribution in the two groups was no significant different.(X2=0.657；P=0.418). OA and NOAgroup (X2=3.193;P=0.074), OA and NOA group group and control group, respectively (X2=3.836,0.141; P=0.051,0.707), the short and long repeat polymorphism distributions were not statistically different between groups.The testicular volume,FSH, LH, E2and T between theshort and long repeat polymorphism groups of the first exon of AR gene CAG polymorphismwere not statistically different (t=-0.415,0.931,0.406,-1.072,-0.322; P=0.679,0.354,0.685,0.286,0.748).2The (TAAAA)n alleles average repetitions between azoospermia and the controlgroup were7.87±0.93and7.64±0.78, which has no significant difference (t=1.562, P=0.120).Refer to the domestic literature,when8was as the dividing point,the two groups weredivided into short and long repeat polymorphism,the distribution of (TAAAA)npolymorphism in the azoospermia,OA group and the control group have significant difference(X2=4.778,5.973；P=0.029,0.015). The distribution of short and long repeat polymorphism inOA and NOA groups,NOA and the control group were no significant difference (X2=1.332,3.251;P=0.248,0.071). Refer to foreign literature, when8was as the dividing point,the distribution of (TAAAA)n polymorphism in the azoospermia,OA and NOA groupsrespectively compare to the control group,have no significant difference between the twogroups (X2=0.026,1.546,0.456;P=0.871,0.214,0.500).3The digit ratios of azoospermia,OA,and NOA groups between the first exon of theAR gene CAG short and long polymorphism had no significant difference (P>0.05).4The digit ratios of azoospermia,OA,and NOA groups between the SHBG genepromoter (TAAAA)n short and long polymorphism had no significant difference (P>0.05).Conclusion1Azoospermia may have a longer first exon of the AR gene CAG repeatpolymorphism than the controls.2The testicular volume, hormone levels has no relation with the first exon of the ARgene CAG repeat polymorphism.3Azoospermia may have a shorter SHBG gene promoter (TAAAA)n repeatpolymorphism than the controls. 4The first exon of AR gene CAG polymorphism and SHBG gene promoter(TAAAA)npolymorphism of azoospermia has nothing to do with the digit ratios.