Apoptosis of spermatogenic cells is an important physiological mechanism that keeps spermatogenesis homeostatic and restricts germ cells amount in seminiferous epithelium and is regulated and controlled by multi-factors. This article summarized recent studies on regulation of cells apoptosis by hormone, genes and various physical and chemical factors in spermatogenesis.
Animals ; Apoptosis ; genetics ; Follicle Stimulating Hormone ; metabolism ; Gene Expression Regulation ; Humans ; Male ; Spermatogenesis ; genetics

Primary ovarian insuffiency (POI), which accounts for female infertility, is characterized by amenorrhea before the age of 40 and high serum level of follicular stimulating hormone (>40 U/L) at two measurements taken at least one month apart. The disorder is believed to have a strong genetic component. A large number of candidate genes have been proposed, though few of them were extensively studied. With the rapid evolvement of genome sequencing technology, recent research raised the possibility that the genes involved in essential steps of meiosis such as chromosome synapsis and recombination play an important role in the pathogenesis of POI. Clarifying the genetic pathogenesis of POI not only can enhance understanding of the molecular mechanism of reproductive functions and infertility, but also provide accurate information for genetic counseling for such patients.
Female ; Follicle Stimulating Hormone ; metabolism ; Humans ; Infertility, Female ; genetics ; Meiosis ; Primary Ovarian Insufficiency ; genetics ; metabolism

Follicle-stimulating hormone (FSH) is synthesized and secreted by the anterior pituitary, which binds to its receptors expressed on the membrane of Sertoli cells in the testis to bring about spermatogenesis. With the development of DNA sequencing technology, FSH SNPs rs10835638 and FSHR SNPs rs6165, rs6166, and rs1394205 were detected, which might directly affect the expression of FSH and activity of FSHR, resulting in male spermatogenic dysfunction. This review focuses on the relationship of FSH and FSHR gene polymorphisms with male infertility.
Follicle Stimulating Hormone ; genetics ; Humans ; Infertility, Male ; genetics ; Male ; Polymorphism, Single Nucleotide ; Receptors, FSH ; genetics ; Sertoli Cells ; Spermatogenesis ; Testis

OBJECTIVETo evaluate the androgenic and anti-androgenic effects of GH (growth hormone) transgenic carp in male rats.

METHODSHershberger assay was carried out in castrated male SD rats aged 4-5 weeks. Testosterone propionate (TP) (0.4 mg/kg BW) was administrated for a positive control, GH transgenic carp (3.0 g/kg BW)+TP (0.4 mg/kg BW), parental carp (3.0 g/kg BW) + TP (0.4 mg/kg BW), and flutamide (Flu) (3.0 g/kg BW) were used for negative controls, and vehicle was administered orally for a blank control. All groups were administrated for 10 consecutive days. At the end of the test, animals were anesthetized, then weights of accessory sex organ were measured. Serum testosterone (T), luteinizing hormone (LH), and Follicle-Stimulating Hormone (FSH) levels were detected.

RESULTSThe weights ratios of the accessory sex organs and body weights showed no significant differences between the solvent control and the GH transgenic carp-treated groups. Serum concentrations of FSH, LH, and T of the rats treated with GH transgenic carp + TP showed no significant changes, compared with those treated with TP only.

CONCLUSIONGH transgenic carp does not have any androgenic agonist or antagonist properties in vivo screening tests.

Animals ; Animals, Genetically Modified ; Carps ; genetics ; Follicle Stimulating Hormone ; blood ; Genitalia, Male ; drug effects ; Growth Hormone ; genetics ; metabolism ; pharmacology ; Luteinizing Hormone ; blood ; Male ; Rats ; Testosterone ; blood

Objective: To assess the association of the FSHR Thr307Ala-Asn680Ser gene polymorphism with male infertility. METHODS: We searched Pubmed, EMBASE, Web of Science, CNKI, and WANFANG databases for literature on the correlation of the FSHR Thr307Ala-Asn680Ser gene polymorphism with male infertility published from 2005 to the present time. According to the inclusion criteria, we included 12 epidemiological case-control studies and subjected them to a comprehensive analysis with the Stata11.0 software. RESULTS: A total of 2 893 male infertility patients and 3 312 controls were involved in the 12 studies. The Thr307Ala (rs6165) gene polymorphism was shown to be a risk factor for male infertility among the three comparison models (homozygous comparison model, hybrid comparison model and dominant comparison model), with the pooled odds ratios (OR) of 1.26 (95% CI: 1.03－1.54, P = 0.023), 1.18 (95% CI: 1.03－1.36, P = 0.018), and 1.20 (95% CI: 1.05－1.37, P = 0.006), respectively. And the Asn680Ser(rs6166) polymorphism was a risk factor for male infertility in the homozygous comparison and recessive comparison models, with the pooled ORs of 1.24, (95% CI: 1.05－1.45, P = 0.009) and 1.20 (95% CI: 1.04－1.39, P = 0.013), respectively. Layered meta-analysis showed that in the homozygous comparison model, the Thr307Ala-Asn680Ser polymorphism is a risk factor for male infertility in the white population, with the OR of 1.37 (95% CI: 1.03－1.82, P = 0.003) and 1.21 (95% CI: 1.00－1.47, P = 0.048), respectively. CONCLUSIONS In the homozygous model (GG vs AA), the FSHRThr307Ala-Asn680Ser gene polymorphism might be a protective factor against male infertility.
Case-Control Studies ; Follicle Stimulating Hormone, Human ; genetics ; Homozygote ; Humans ; Infertility, Male ; genetics ; Male ; Polymorphism, Genetic ; Risk Factors

OBJECTIVE: To explore the incidence of azoospermia factor c (AZFc) microdeletion among patients with azoospermia or severe oligospermia, its association with sex hormone/chromosomal karyotype, and its effect on the outcome of pregnancy following intracytoplasmic sperm injection (ICSI) treatment. METHODS: A total of 1 364 males with azoospermia or severe oligospermia who presented at the Affiliated Maternity and Child Health Care Hospital of Jiaxing College between 2013 and 2020 were subjected to AZF microdeletion and chromosome karyotyping analysis. The level of reproductive hormones in patients with AZFc deletions was compared with those of control groups A (with normal sperm indices) and B (azoospermia or severe oligospermia without AZFc microdeletion). The outcome of pregnancies for the AZFc-ICSI couples was compared with that of the control groups in regard to fertilization rate, superior embryo rate and clinical pregnancy rate. RESULTS: A total of 51 patients were found to harbor AZFc microdeletion, which yielded a detection rate of 3.74%. Seven patients also had chromosomal aberrations. Compared with control group A, patients with AZFc deletion had higher levels of PRL, FSH and LH (P < 0.05), whilst compared with control group B, only the PRL and FSH were increased (P < 0.05). Twenty two AZFc couples underwent ICSI treatment, and no significant difference was found in the rate of superior embryos and clinical pregnancy between the AZFc-ICSI couples and the control group (P > 0.05). CONCLUSION The incidence of AZFc microdeletion was 3.74% among patients with azoospermia or severe oligospermia. AZFc microdeletion was associated with chromosomal aberrations and increased levels of PRL, FSH and LH, but did not affect the clinical pregnancy rate after ICSI treatment.
Child ; Humans ; Male ; Female ; Pregnancy ; Azoospermia/genetics* ; Oligospermia/genetics* ; Incidence ; Chromosome Deletion ; Chromosomes, Human, Y/genetics* ; Semen ; Infertility, Male/genetics* ; Chromosome Aberrations ; Follicle Stimulating Hormone/genetics*

Premature ovarian failure (POF) is menopause before the age of 40 years. The frequency of POF is about 1% of all women. Recently inhibin alpha gene (INHalpha) has been indicated as candidate in POF pathogenesis. Inhibin, a glycoprotein, is a gonadal hormone, which can inhibit the synthesis and secretion of pituitary follicle-stimulating hormone (FSH), which has an important role in the recruitment and development of ovarian follicles during the folliculogenesis. G769A variation of INH alpha, alanine, is highly conserved across species, and has an important role of its receptor binding. We screened a G769A transition in the INHalpha from the total population of the patients of 84 women with POF and 100 normal fertile women. We found no variation between the normal subjects and the POF patients. G769A variation of INHalpha is rare in Korea women with POF.
Adult ; Female ; Follicle Stimulating Hormone/metabolism ; Human ; Infertility, Female/genetics ; Inhibins/*genetics/metabolism ; Korea ; Ovarian Failure, Premature/*genetics/metabolism ; *Polymorphism, Restriction Fragment Length ; Support, Non-U.S. Gov't

OBJECTIVETo explore the relationship between the patients' high follicle-stimulating hormone (FSH) azoospermia and microdeletions in Y chromosome.

METHODSEleven sequence tagged sites (STSs) in Yq were detected by PCR in 16 male patients' high FSH azoospermia.

RESULTSMicrodeletions were observed in 6 of 16 male patients and the deletion rate was 37.5%(6/16). Five types of microdeletions were detected: AZFc(SY152), AZFc (SY152+SY254)+AZFd (SY153), AZFc (SY152+SY254+SY255)+AZFd (SY153), AZFc (SY152+SY158+SY255)+AZFd (SY153),and AZFb (SY130)+AZFc (SY158+SY254+SY255)+AZFd (SY153) respectively.

CONCLUSIONMicrodeletion of Y chromosome was one of the important reasons of the patients' high FSH azoospermia. Before the application of assisted-reproductive technology (ART) to the patients, it is necessary to detect the microdeletions, especially AZFc and AZFd.

Azoospermia ; genetics ; metabolism ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Female ; Follicle Stimulating Hormone ; metabolism ; Humans ; Infertility, Male ; genetics ; metabolism ; Male ; Polymerase Chain Reaction ; Sequence Tagged Sites

In order to obtain the long-acting FSH preparation, the single strand long-acting analogous gene FSHbeta-CTP-alpha was successfully constructed by the C-terminal peptide(CTP) of carboxyl-terminal region of human chorionic gonadotropin with the goat FSHalpha-subunit and beta-subunit genes, then it was inserted into pPIC9K vector. The recombinant plasmid pPIC9K FSHbeta-CTP-alpha was transformed into Pichia pastoris GS115 by electroporation. The multi-copy inserts His+Mut+ were gained by the screening of phenotype and hyper-resistance to G418. After methanol induction, the supernatant was analysised by SDS-Polyacrylamide Gen Electrophoresis and Western blot. The results show that the transformants of FSHbeta-CTP-alpha could express the objective protein successfully and the molecular weight is about 29 kD. The concentration of supernatant was detected by Radio-immunoassay and the average expression of multi-inserts is 91.849 mIU/mL and the low-inserts is 37.419 mIU/mL. The expression of multi-inserts is higher than the low-inserts significantly. This research lay the foundation for studying the structure of FSH and the production of long-acting FSH preparation.
Animals ; Delayed-Action Preparations ; chemical synthesis ; Electroporation ; Female ; Follicle Stimulating Hormone ; analogs & derivatives ; genetics ; Genetic Vectors ; Goats ; Pichia ; genetics ; metabolism ; Recombinant Proteins ; administration & dosage ; biosynthesis ; genetics

ObjectiveTo study the relationship of the single nucleotide polymorphisms (SNP) rs34349826 (c.104 A>G) and rs6521 (c.114 C>G) of the luteinizing hormone beta-subunit (LHB) gene with male infertility in Chinese men.

METHODSThis case-control study included 405 males with primary infertility (the infertility group) and 424 normal fertile men (the control group), the former again divided into subgroups of oligospermia, severe oligozoospermia and azoospermia according to the sperm concentration. Clinical data were collected from all the subjects and genomic DNA obtained from their peripheral blood for genotyping rs34349826 and rs6521 of the LHB gene by Sequence MassArray. We analyzed the correlation of male infertility with the SNPs of the two loci using the logistic regression model as well as its association with their haplotype combination with the SHEsis online software.

RESULTSThere were statistically significant differences between the control and infertility groups in the semen volume (［3.51 ± 1.36］ vs ［3.74 ± 1.71］ ml, P <0.05), sperm concentration (［79.21 ± 61.60］ vs ［27.37 ± 30.80］ ×10⁶/ml, P <0.01), percentage of progressively motile sperm (［39.40 ± 9.64］ % vs ［11.90 ± 14.72］ %, P <0.01), and levels of serum luteinizing hormone (LH) (［3.29 ± 1.39］ vs ［6.25 ± 4.83］ IU/L, P <0.01) and follicle-stimulating hormone (FSH) (［4.56 ± 2.31］ vs ［15.64 ± 17.03］ IU/L, P <0.01). Logistic regression analysis revealed no correlation between male infertility and the genotypes of the rs34349826 and rs6521 loci of the LHB gene, and similar results were found in the subgroups of the infertile males. SHEsis analysis on the haplotypes of the rs34349826 and rs6521 loci showed the GG genotype combination to be a protective factor against male infertility.

CONCLUSIONSThe rs34349826 and rs6521 loci of the LHB gene were not related to male infertility, which can be further confirmed by larger-sample studies. The GG genotype combination is a protective factor against male infertility.

Adult ; Azoospermia ; genetics ; Case-Control Studies ; China ; Follicle Stimulating Hormone ; Genotype ; Haplotypes ; Humans ; Infertility, Male ; genetics ; Logistic Models ; Luteinizing Hormone ; Luteinizing Hormone, beta Subunit ; genetics ; Male ; Oligospermia ; genetics ; Polymorphism, Single Nucleotide ; Sperm Count