Analysis of chromosome in 1 324 patients with oligozoospermia or azoosperm / 北京大学学报(医学版)

OBJECTIVE@#To explore the incidience of chromosome abnormality of the patients with oligozoospermia or azoospermia and male infertility, to discuss the relationship between the quantitative and structural abnormality of chromosome and to lay the foundation for the clinical diagnosis and consultation.@*METHODS@#A retrospective analysis was conducted from January 1, 2015 to May 1, 2016, in the Center for Reproduction Medicine, the Second Hospital of Jilin University, with male reproductive abnormalities history excluded. In the study, 1 324 cases were included with 448 cases of azoospermia and 876 cases of oligozoospermia. All the patients through ultrasound examination, color Doppler ultrasonography, the seminal plasma Zn determination, their hormone level determination, chromosome karyotype (the perinatal blood samples were obtained from the 1 324 patients with oligozoospermia or azoospermia for lymphocyte culture, then chromosomal specimens were prepared, G-banding analyses combined with clinical data were used to statistically analyze the incidence of chromosomal abnormality), Y chromosome azoospermia factor [PCR technique was used to detect SY157 locus, SY254 locus, and SY255 locus in male Y chromosome azoospermia factor (AZF) gene of the patients with oligozoospermia or azoospermia]. The relationship between chromosome abnormalities and oligozoospermia or azoospermia were analyzed.@*RESULTS@#Among the 876 cases of oligospermia patients, 78 cases were chromosome number abnormality and chromosomal structural abnormality, the abnormal number of sex chromosomes in 22 cases, and sex chromosomes and chromosome structural abnormalities in 56 cases; in the 448 cases of azoospermia patients, 91 cases were chromosomal structural abnormality and chromosome number abnormality, of them, 78 cases were of abnormal number of sex chromosomes, and 13 cases were of abnormal structure. In addition, 137 cases were of chromosome polymorphism in all the 1 324 patients, The incidence of Y chromosome abnormality in azoospermatism was higher than that of the 43 patients with Y chromosome AZF microdeletion. In addition, the asthenospermia and recurrent spontaneous abortion were closely related to Y chromosome abnormality and the chromosome translocations and inversions.@*CONCLUSION@#Oligozoospermia and azoospermia patients with abnormal chromosome karyotype have high incidence rate, and chromosome karyotype analyses were carried out on it, which is conducive to clinical diagnosis for the patients with abnormal chromosome karyotype. There is a close relationship between male infertility and abnormal karyotype. It is conducive to clinical diagnosis for the patients with infertility through chromosome karyotye analysis, which also provides evidence for genetic counseling.

A complex chromosome translocation with male infertility of karyotype analysis and literature review / 北京大学学报(医学版)

One case of family chromosomal karyotype with complex chromosomal translocation and male infertility was reported. This case is a male, 30 years old, Han nationality, who did not receive contraception for 3 years after marriage. The phenotype and intelligence of the patients were normal, and there were no abnormalities in the external genitalia. No abnormalities were found in the prostate and spermatic vein. There was no history of parotitis or testicular trauma, no history of smoking, drinking history, denial of harmful substances and history of radioactive contact. There were no similar patients in the family, and the secondary sex was normal. The routine semen examination suggested that the active sperm was seldom seen. There were no obvious abnormalities in the serum endocrine examination of the patient. Cytogenetic examination: the patient's karyotype 46XY, t (10; 18; 21) (q22; p11.2; q11.2). There was no deletion in locus sY84, sY86, sY127, sY134, sY143, sY254 and sY255. His wife's examination showed no obvious abnormality, and her karyotype was normal. The parents of the patients were not close relatives. Their father's chromosome karyotype analysis was 46, XY, and Y chromosome microdeletion was normal. The chromosome karyotype of the parent was 46XX, t (10; 18; 21), and the parents of the patient also had a daughter, whose phenotype and intellectual development were normal, chromosome karyotype 46XX, t (10; 18; 21). In this case, the patient's balance translocation should be inherited by the mother. Because of the normal phenotype of the patient, there was no loss of genetic material, but the abnormal chromosomes might be passed to the offspring, and the proportion of the unbalanced gametes was very high. Through systematic review and review of the cases, it was concluded that the balanced translocation carriers only changed the relative position of the translocation segments on the chromosomes, retained the total number of the original genes, only changed the relative position of the genes on the chromosomes, and had no serious effect on the role of the gene and the development of the individual. The phenotype was normal. The patients were given symptomatic treatment to improve semen quality. It is recommended that pre-implantation genetic screening/diagnosis(PGS/PGD) be performed if necessary. It is to guide married men and women to choose the appropriate childbearing age, avoid unhealthy environmental contacts, and strengthen genetic screening before and after pregnancy, so as to achieve the goal of eugenics.

Updated molecular genetic mechanisms of globozoospermia / 中华男科学杂志

Globozoospermia is a rare and serious teratozoospermia, which is one of the important causes contributing to human male infertility. The assisted reproductive technique remains the only means for such patients to produce offspring. However, the pathogenesis of globozoospermia is not yet clear. In recent years, related studies have shown that some genes are connected with the onset of globozoospermia. This paper outlines the progress in the studies of pathogenicity genes, aiming to contribute to the molecular diagnosis and mechanism investigation of the disease.

Risk factors of recurrent spontaneous abortion / 中华男科学杂志

Recurrent spontaneous abortion (RSA) has various complicated causes, and more and more researches are focused on its etiology. Genetic factors are the most common risk factors of RSA; immune factors, infection factors, male factors and female factors play an important role; environmental pollution and some other unknown factors may also be conspirators. This article presents an overview on the possible risk factors of RSA.

Progesterone and its receptor in male reproduction / 中华男科学杂志

Progesterone, as a female hormone, plays an important role in the physiological function and pregnancy maintenance in women. Recent studies show that progesterone and its receptor are also involved in male reproduction, and its receptor mRNA exists in male sexual glands. It is believed that progesterone, binding to its receptor, can regulate spermatogenesis and improve the fertilization of sperm, while the sperm from those with oligospermia, asthenozoospermia, teratospermia or unexplained infertility exhibit a low fertility due to the deficient expression of the progesterone receptor and insensitive reaction to progesterone. This review focuses on the progress in the studies of progesterone and its receptor in male reproduction.

Correlation of the contents of trace elements in male body fluids with sperm quality / 中华男科学杂志

<p><b>OBJECTIVE</b>To explore the contents of trace elements in the blood and seminal plasma of men and their correlation with semen parameters.</p><p><b>METHODS</b>We detected and analyzed the contents of calcium, magnesium, copper, zinc, iron and lead in the blood and semen of 113 men with the BH-5100 5-channel atomic absorption spectrometer, YY-1001 blood lead instrument and Weili color sperm automatic analyzer to investigate the correlation of the contents of trace elements with quality.</p><p><b>RESULTS</b>The contents of lead, copper, zinc and iron in the blood were significantly correlated with those in the seminal plasma, but not the contents of calcium and magnesium. The contents of lead, copper, zinc, calcium, magnesium and iron in the blood were significantly different from those in the semen. In the seminal plasma, the content of calcium showed a significant positive correlation with sperm motility, linear motile sperm motility (LMSM), straight line velocity (VSL), curvilinear velocity (VCL), mean angle of deviation (MAD), active sperm density (ASD), average path velocity (VAP) and lateral head amplitude (ALH), while that of lead was negatively correlated with sperm motility, LMSM, ASD, motile sperm density (MSD) and linear motile sperm density (LMSD), and so was that of magnesium with sperm motility, LMSM and LMSD, and those of calcium, magnesium and iron with seminal pH. In the blood, the content of zinc was negatively correlated with sperm motility and LMSM, and so was that of magnesium with sperm motility, LMSM and VAP, while that of lead was positively correlated with ALH.</p><p><b>CONCLUSION</b>The contents of trace elements in different body fluids are differently correlated with sperm quality.</p>

Kidney-tonifying and dampness-expelling Chinese herbal medicine combined with doxazosin for the treatment of chronic epididymitis / 中华男科学杂志

<p><b>OBJECTIVE</b>To study the clinical effects of kidney-tonifying and dampness-expelling Chinese herbal medicine combined with doxazosin in the treatment of chronic epididymitis.</p><p><b>METHODS</b>A total of 64 patients with chronic epididymitis were equally randomized into a treatment and a control group, the former treated with kidney-tonifying and dampness-expelling Chinese herbal decoction combined with doxazosin, and the latter given doxazosin only, both for 4 weeks. The clinical symptoms were measured by Chronic Epididymitis Symptom Index (CESI), Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale (SDS) before and after the treatment, and the therapeutic effects were evaluated.</p><p><b>RESULTS</b>After 4 weeks of medication, the total mean scores on CESI, pain, and quality of life (QOL) were significantly decreased in both the treatment and the control groups (P < 0.05), even more significantly in the former than in the latter (P < 0.05), and so were the scores on SAS and SDS (P < 0.05), but with no significant differences between the two groups (P > 0.05).</p><p><b>CONCLUSION</b>Either doxazosin alone or kidney-tonifying and dampness-expelling Chinese herbal decoction combined with doxazosin is obviously effective on chronic epididymitis, but the combined medication produces an even better efficacy.</p>

Growth factors promote the survival and proliferation of human spermatogonium stem cells in vitro / 中华男科学杂志

<p><b>OBJECTIVE</b>To study the effects of growth factors on the survival and proliferation of human spermatogonial stem cells (SSCs) in vitro.</p><p><b>METHODS</b>SSCs were treated with the growth factors SCF, LIF and bFGF added to the culture, each at the concentrations of 0, 5, 10 and 20 microg/L and repeated three times. The survival time and proliferation rate of the cells were determined every 8-12 hours and their morphological features observed with the light microscope and electron microscope.</p><p><b>RESULTS</b>The survival time and proliferation rate of the SSCs were significantly increased in the treated groups as compared with the control (P < 0.05).</p><p><b>CONCLUSION</b>The growth factors SCF, LIF and bFGF can promote the survival and proliferation of SSCs in vitro.</p>

Clinical analysis of 87 cases of testicular tumor / 中华男科学杂志

<p><b>OBJECTIVE</b>To improve the diagnosis and treatment of testicular tumor.</p><p><b>METHODS</b>Eighty-seven cases of testicular tumor were retrospectively studied.</p><p><b>RESULTS</b>Of the total number, 79 cases were pathologically diagnosed as germ cell tumor (90.1%), among which there were 44 cases of seminoma (55.7%) and 7 cases of benign tumor (8.1%). Nonseminoma germ cell tumor (NSGCT) was found mainly among those under 5 and from 18 to 40 years of age, while seminoma chiefly among those beyond 17, and testis tumor was rare among those between 5 and 17 years old (1 case only). Three-year and 5-year survival rates of seminoma and NSGCT were 90.6% and 81.3%, and 83.3% and 56.7%, respectively.</p><p><b>CONCLUSION</b>(1) Testicular tumors are mostly germ cell tumors. (2) NSGCT develops mainly among those under the age of 5 and from 18 to 40. (3) Seminoma is rare in those under 18. (4) Testicular tumor rarely develops among those between 5 and 17 years old. (5)Three-year and 5-year survival rates for seminoma are higher than those for NSGCT.</p>