Sertoli Cell-Only Syndrome

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Yan-qing Gong - One of the best experts on this subject based on the ideXlab platform.

  • Effect of TGF-β/Smad signaling on Sertoli cell and possible mechanism related to complete Sertoli Cell-Only Syndrome
    Molecular and Cellular Biochemistry, 2008
    Co-Authors: Tao Sun, Zhongcheng Xin, Zhe Jin, Yan-qing Gong
    Abstract:

    The roles of TGF-β and the interaction between TGF-β and EGFR signaling are critical in Sertoli cell, though the knowledge about them is limited. RT-PCR was used to characterize the status of TGF-β signaling in clinical testicular specimens with complete Sertoli Cell-Only Syndrome (SCOS). The mouse Sertoli cell TM4 was used to investigate the interaction between TGF-β and EGFR signaling by using mitogenic assay, luciferase assay, and western blot, while TM3 (mouse leydig cell), 3T3 (mouse embryo fibroblasts), and B82 (mouse lung fibroblasts) were selected as control. The RT-PCR assay indicated that the expression levels of TβRII and Smad2 in SCOS testes were upregulated compared to that in the normal controls. In the in vitro experiment, the TGF-β1 downregulated cellular proliferation of TM3 and B82 cell (P 0.05). On contrast, TGF-β1 only increased the TGF response elements p3TP-lux activity significantly (P < 0.05) in Sertoli cell TM4. Also, the Western blot assay shows an obvious increase of Smad2 in TM4, 3T3, and TM3 cells after TGF-β1 treatment while the EGFR expression level was significantly increased in TM4 cells only. In conclusion, the TGF-β pathway and the cross-link between TGF-β and EGFR signaling may play an important role on the dysfunction of Sertoli cells which induce germ stem cells’ disappearance in SCOS.

  • Effect of TGF-beta/Smad signaling on Sertoli cell and possible mechanism related to complete Sertoli Cell-Only Syndrome.
    Molecular and cellular biochemistry, 2008
    Co-Authors: Tao Sun, Zhongcheng Xin, Zhe Jin, Yan-qing Gong
    Abstract:

    The roles of TGF-beta and the interaction between TGF-beta and EGFR signaling are critical in Sertoli cell, though the knowledge about them is limited. RT-PCR was used to characterize the status of TGF-beta signaling in clinical testicular specimens with complete Sertoli Cell-Only Syndrome (SCOS). The mouse Sertoli cell TM4 was used to investigate the interaction between TGF-beta and EGFR signaling by using mitogenic assay, luciferase assay, and western blot, while TM3 (mouse leydig cell), 3T3 (mouse embryo fibroblasts), and B82 (mouse lung fibroblasts) were selected as control. The RT-PCR assay indicated that the expression levels of TbetaRII and Smad2 in SCOS testes were upregulated compared to that in the normal controls. In the in vitro experiment, the TGF-beta1 downregulated cellular proliferation of TM3 and B82 cell (P < 0.05), but it did not changed the proliferation of TM4 and 3T3 cells (P > 0.05). On contrast, TGF-beta1 only increased the TGF response elements p3TP-lux activity significantly (P < 0.05) in Sertoli cell TM4. Also, the Western blot assay shows an obvious increase of Smad2 in TM4, 3T3, and TM3 cells after TGF-beta1 treatment while the EGFR expression level was significantly increased in TM4 cells only. In conclusion, the TGF-beta pathway and the cross-link between TGF-beta and EGFR signaling may play an important role on the dysfunction of Sertoli cells which induce germ stem cells' disappearance in SCOS.

Maria Luisa Di Petrillo - One of the best experts on this subject based on the ideXlab platform.

  • Pregnancy and live birth after follicle-stimulating hormone treatment for an infertile couple including a male affected by Sertoli Cell-Only Syndrome.
    Research and reports in urology, 2017
    Co-Authors: Gianni Paulis, Luca Paulis, Gennaro Romano, Carmen Concas, Marika Di Sarno, Renata Pagano, Antonio Di Filippo, Maria Luisa Di Petrillo
    Abstract:

    In males with nonobstructive azoospermia, one of the main histopathologic patterns of the testis is Sertoli Cell-Only Syndrome (SCOS), in which no germ cells are present and only Sertoli cells are contained in the seminiferous tubules. There is not any formal treatment for this pathological condition. However, several studies reported the possibility to perform testicular sperm extraction in patients with SCOS, although, according to some authors, sperm retrieval is possible only in the presence of focal spermatogenesis. We report the case of an infertile couple in whom the 30-year-old male was azoospermic. After the diagnosis, the patient underwent multiple bilateral testicular biopsies, which showed a histological pattern corresponding to SCOS. We administered a cycle of hormone stimulation followed by medically assisted procreation procedures to the male patient. Therefore, the male patient was treated with follicle-stimulating hormone gonadotropin for a total of 7 months (150 IU recombinant human follicle stimulating hormone three times per week). After carrying out a new multiple testicular sperm extraction, several spermatozoa were microscopically observed, and it was then possible to perform an intracytoplasmic sperm injection with subsequent embryo transfer of the blastocyst into the wife's uterus, and so pregnancy was established and developed. Subsequently, the pregnancy resulted in the live birth of a girl.

  • Pregnancy and live birth after follicle-stimulating hormone treatment for an infertile couple including a male affected by Sertoli Cell-Only Syndrome
    Research and Reports in Urology, 2017
    Co-Authors: Gianni Paulis, Luca Paulis, Gennaro Romano, Carmen Concas, Marika Di Sarno, Renata Pagano, Antonio Di Filippo, Maria Luisa Di Petrillo
    Abstract:

    Gianni Paulis,1,2 Luca Paulis,3 Gennaro Romano,4 Carmen Concas,5 Marika Di Sarno,5 Renata Pagano,5 Antonio Di Filippo,5 Maria Luisa Di Petrillo5 1Andrology Center, Regina Apostolorum Hospital, Rome, Italy; 2Department of Uro-Andrology, Castelfidardo Medical Team, Peyronie’s Disease Care Center, Rome, Italy; 3Section of Pharmacology and Research, Department of Uro-Andrology, Castelfidardo Medical Team, Peyronie’s Disease Care Center, Rome, Italy; 4Department of Urologic Oncology, Italian League Against Cancer, Avellino, Italy; 5Department of Reproductive Medicine and Biology, Caran Center, Caserta, Italy Abstract: In males with nonobstructive azoospermia, one of the main histopathologic patterns of the testis is Sertoli Cell-Only Syndrome (SCOS), in which no germ cells are present and only Sertoli cells are contained in the seminiferous tubules. There is not any formal treatment for this pathological condition. However, several studies reported the possibility to perform testicular sperm extraction in patients with SCOS, although, according to some authors, sperm retrieval is possible only in the presence of focal spermatogenesis. We report the case of an infertile couple in whom the 30-year-old male was azoospermic. After the diagnosis, the patient underwent multiple bilateral testicular biopsies, which showed a histological pattern corresponding to SCOS. We administered a cycle of hormone stimulation followed by medically assisted procreation procedures to the male patient. Therefore, the male patient was treated with follicle-stimulating hormone gonadotropin for a total of 7 months (150 IU recombinant human follicle stimulating hormone three times per week). After carrying out a new multiple testicular sperm extraction, several spermatozoa were microscopically observed, and it was then possible to perform an intracytoplasmic sperm injection with subsequent embryo transfer of the blastocyst into the wife’s uterus, and so pregnancy was established and developed. Subsequently, the pregnancy resulted in the live birth of a girl. Keywords: azoospermia, Sertoli Cell-Only Syndrome, FSH, ICSI, TESE sperm retrieval, live birth pregnanc

Tao Sun - One of the best experts on this subject based on the ideXlab platform.

  • Effect of TGF-β/Smad signaling on Sertoli cell and possible mechanism related to complete Sertoli Cell-Only Syndrome
    Molecular and Cellular Biochemistry, 2008
    Co-Authors: Tao Sun, Zhongcheng Xin, Zhe Jin, Yan-qing Gong
    Abstract:

    The roles of TGF-β and the interaction between TGF-β and EGFR signaling are critical in Sertoli cell, though the knowledge about them is limited. RT-PCR was used to characterize the status of TGF-β signaling in clinical testicular specimens with complete Sertoli Cell-Only Syndrome (SCOS). The mouse Sertoli cell TM4 was used to investigate the interaction between TGF-β and EGFR signaling by using mitogenic assay, luciferase assay, and western blot, while TM3 (mouse leydig cell), 3T3 (mouse embryo fibroblasts), and B82 (mouse lung fibroblasts) were selected as control. The RT-PCR assay indicated that the expression levels of TβRII and Smad2 in SCOS testes were upregulated compared to that in the normal controls. In the in vitro experiment, the TGF-β1 downregulated cellular proliferation of TM3 and B82 cell (P 0.05). On contrast, TGF-β1 only increased the TGF response elements p3TP-lux activity significantly (P < 0.05) in Sertoli cell TM4. Also, the Western blot assay shows an obvious increase of Smad2 in TM4, 3T3, and TM3 cells after TGF-β1 treatment while the EGFR expression level was significantly increased in TM4 cells only. In conclusion, the TGF-β pathway and the cross-link between TGF-β and EGFR signaling may play an important role on the dysfunction of Sertoli cells which induce germ stem cells’ disappearance in SCOS.

  • Effect of TGF-beta/Smad signaling on Sertoli cell and possible mechanism related to complete Sertoli Cell-Only Syndrome.
    Molecular and cellular biochemistry, 2008
    Co-Authors: Tao Sun, Zhongcheng Xin, Zhe Jin, Yan-qing Gong
    Abstract:

    The roles of TGF-beta and the interaction between TGF-beta and EGFR signaling are critical in Sertoli cell, though the knowledge about them is limited. RT-PCR was used to characterize the status of TGF-beta signaling in clinical testicular specimens with complete Sertoli Cell-Only Syndrome (SCOS). The mouse Sertoli cell TM4 was used to investigate the interaction between TGF-beta and EGFR signaling by using mitogenic assay, luciferase assay, and western blot, while TM3 (mouse leydig cell), 3T3 (mouse embryo fibroblasts), and B82 (mouse lung fibroblasts) were selected as control. The RT-PCR assay indicated that the expression levels of TbetaRII and Smad2 in SCOS testes were upregulated compared to that in the normal controls. In the in vitro experiment, the TGF-beta1 downregulated cellular proliferation of TM3 and B82 cell (P < 0.05), but it did not changed the proliferation of TM4 and 3T3 cells (P > 0.05). On contrast, TGF-beta1 only increased the TGF response elements p3TP-lux activity significantly (P < 0.05) in Sertoli cell TM4. Also, the Western blot assay shows an obvious increase of Smad2 in TM4, 3T3, and TM3 cells after TGF-beta1 treatment while the EGFR expression level was significantly increased in TM4 cells only. In conclusion, the TGF-beta pathway and the cross-link between TGF-beta and EGFR signaling may play an important role on the dysfunction of Sertoli cells which induce germ stem cells' disappearance in SCOS.

Yasushi Miyagawa - One of the best experts on this subject based on the ideXlab platform.

  • Single-nucleotide polymorphisms in the human RAD21L gene may be a genetic risk factor for Japanese patients with azoospermia caused by meiotic arrest and Sertoli Cell-Only Syndrome
    Human fertility (Cambridge England), 2017
    Co-Authors: Gaku Minase, Mikio Namiki, Toshinobu Miyamoto, Yasushi Miyagawa, Masashi Iijima, Hiroto Ueda, Yasuaki Saijo, Kazuo Sengoku
    Abstract:

    Genetic mechanisms are implicated in some cases of male infertility. Recently, it was demonstrated that male mice lacking the gene for RAD21L exhibited azoospermia caused by meiotic arrest. Mouse RAD21L is a functionally relevant meiotic α-kleisin that is essential for male fertility. Therefore, we hypothesized that RAD21L mutations or polymorphisms may be associated with male infertility, especially azoospermia secondary to meiotic arrest. To determine if RAD21L defects are associated with azoospermia in groups of patients with meiotic arrest, we performed direct sequencing of the RAD21L coding regions in 38 Japanese patients with meiotic arrest and in 200 normal controls. Three coding single-nucleotide polymorphisms (SNP1-SNP3) were detected in the meiotic arrest patient group. Sertoli Cell-Only Syndrome is considered a common cause of non-obstructive azoospermia. For comparison, the RAD21L coding regions in which SNP1-SNP3 were detected were sequenced in 140 patients with Sertoli Cell-Only Syndrome. Statistical analyses were used to compare the two groups of patients with the control group. Genotype and allele frequencies of SNP2 and SNP3 were notably higher in the two patient groups compared with the control group (Bonferroni adjusted p value

  • single nucleotide polymorphisms in the human rad21l gene may be a genetic risk factor for japanese patients with azoospermia caused by meiotic arrest and Sertoli cell only Syndrome
    Human Fertility, 2017
    Co-Authors: Gaku Minase, Mikio Namiki, Toshinobu Miyamoto, Yasushi Miyagawa, Masashi Iijima, Hiroto Ueda, Yasuaki Saijo, Kazuo Sengoku
    Abstract:

    Genetic mechanisms are implicated in some cases of male infertility. Recently, it was demonstrated that male mice lacking the gene for RAD21L exhibited azoospermia caused by meiotic arrest. Mouse RAD21L is a functionally relevant meiotic α-kleisin that is essential for male fertility. Therefore, we hypothesized that RAD21L mutations or polymorphisms may be associated with male infertility, especially azoospermia secondary to meiotic arrest. To determine if RAD21L defects are associated with azoospermia in groups of patients with meiotic arrest, we performed direct sequencing of the RAD21L coding regions in 38 Japanese patients with meiotic arrest and in 200 normal controls. Three coding single-nucleotide polymorphisms (SNP1-SNP3) were detected in the meiotic arrest patient group. Sertoli Cell-Only Syndrome is considered a common cause of non-obstructive azoospermia. For comparison, the RAD21L coding regions in which SNP1-SNP3 were detected were sequenced in 140 patients with Sertoli Cell-Only Syndrome. Statistical analyses were used to compare the two groups of patients with the control group. Genotype and allele frequencies of SNP2 and SNP3 were notably higher in the two patient groups compared with the control group (Bonferroni adjusted p value <0.016). These results suggest a critical role for RAD21L in human spermatogenesis.

  • a plk4 mutation causing azoospermia in a man with Sertoli cell only Syndrome
    Journal of Andrology, 2016
    Co-Authors: Toshinobu Miyamoto, Mikio Namiki, Y Bando, Eitetsue Koh, Akira Tsujimura, Yasushi Miyagawa, Masashi Iijima, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
    Abstract:

    About 15% of couples wishing to have children are infertile; approximately half these cases involve a male factor. Polo-like kinase 4 (PLK-4) is a member of the polo protein family and a key regulator of centriole duplication. Male mice with a point mutation in the Plk4 gene show azoospermia associated with germ cell loss. Mutational analysis of 81 patients with azoospermia and Sertoli Cell-Only Syndrome (SCOS) identified one man with a heterozygous 13-bp deletion in the Ser/Thr kinase domain of PLK4. Division of centrioles occurred in wild-type PLK4-transfected cells, but was hampered in PLK-4-mutant transfectants, which also showed abnormal nuclei. Thus, this PLK4 mutation might be a cause of human SCOS and nonobstructive azoospermia.

  • Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli Cell-Only Syndrome.
    Journal of andrology, 2011
    Co-Authors: Hiroe Miyakawa, Mikio Namiki, Toshinobu Miyamoto, Akira Tsujimura, Yasushi Miyagawa, Yasuaki Saijo, Eitetsu Koh, Kazuo Sengoku
    Abstract:

    Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, 10 novel genes involved in human spermatogenesis, including human SEPTIN12, were identified by expression microarray analysis of human testicular tissue. Septin12 is a member of the septin family of conserved cytoskeletal GTPases that form heteropolymeric filamentous structures in interphase cells. It is expressed specifically in the testis. Therefore, we hypothesized that mutation or polymorphisms of SEPTIN12 participate in male infertility, especially Sertoli Cell-Only Syndrome (SCOS). To investigate whether SEPTIN12 gene defects are associated with azoospermia caused by SCOS, mutational analysis was performed in 100 Japanese patients by direct sequencing of coding regions. Statistical analysis was performed in patients with SCOS and in 140 healthy control men. No mutations were found in SEPTIN12 ; however, 8 coding single-nucleotide polymorphisms (SNP1-SNP8) could be detected in the patients with SCOS. The genotype and allele frequencies in SNP3, SNP4, and SNP6 were notably higher in the SCOS group than in the control group (P < .001). These results suggest that SEPTIN12 might play a critical role in human spermatogenesis.

  • expression of inhibin α glial cell line derived neurotrophic factor and stem cell factor in Sertoli cell only Syndrome relation to successful sperm retrieval by microdissection testicular sperm extraction
    Human Reproduction, 2005
    Co-Authors: Kazutoshi Fujita, Kiyomi Matsumiya, Akira Tsujimura, Yasushi Miyagawa, Tetsuya Takao, M. Koga, M. Takeyama, H. Fujioka, K. Aozasa, Akihiko Okuyama
    Abstract:

    BACKGROUND Microdissection testicular sperm extraction (TESE) has provided new hope for successful sperm retrieval to patients with Sertoli Cell-Only Syndrome (SCO). We determined expression of the inhibin alpha subunit, glial cell line-derived neurotrophic factor (GDNF) and stem cell factor (SCF) in Sertoli cells obtained from patients with SCO immunohistochemically and compared expression rates with rates of microdissection TESE sperm retrieval. METHODS Testicular biopsy specimens were obtained from 52 men with non-obstructive azoospermia who underwent microdissection TESE and were diagnosed with SCO by histological analysis. RESULTS All specimens showed intense staining for the inhibin alpha subunit. Moderate or intense staining for GDNF was observed in 65.8% of specimens. All but one showed moderate or intense staining for SCF. Among specimens negative for GDNF, the sperm retrieval rate was significantly higher (100%) for specimens with intense staining for SCF than for specimens with no or moderate staining (30.7%) (P<0.05) for SCF. CONCLUSION GDNF expression differs among patients with SCO. The sperm retrieval rate was high in cases of no staining for GDNF and intense staining for SCF.

Akira Tsujimura - One of the best experts on this subject based on the ideXlab platform.

  • a plk4 mutation causing azoospermia in a man with Sertoli cell only Syndrome
    Journal of Andrology, 2016
    Co-Authors: Toshinobu Miyamoto, Mikio Namiki, Y Bando, Eitetsue Koh, Akira Tsujimura, Yasushi Miyagawa, Masashi Iijima, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
    Abstract:

    About 15% of couples wishing to have children are infertile; approximately half these cases involve a male factor. Polo-like kinase 4 (PLK-4) is a member of the polo protein family and a key regulator of centriole duplication. Male mice with a point mutation in the Plk4 gene show azoospermia associated with germ cell loss. Mutational analysis of 81 patients with azoospermia and Sertoli Cell-Only Syndrome (SCOS) identified one man with a heterozygous 13-bp deletion in the Ser/Thr kinase domain of PLK4. Division of centrioles occurred in wild-type PLK4-transfected cells, but was hampered in PLK-4-mutant transfectants, which also showed abnormal nuclei. Thus, this PLK4 mutation might be a cause of human SCOS and nonobstructive azoospermia.

  • Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli Cell-Only Syndrome.
    Journal of andrology, 2011
    Co-Authors: Hiroe Miyakawa, Mikio Namiki, Toshinobu Miyamoto, Akira Tsujimura, Yasushi Miyagawa, Yasuaki Saijo, Eitetsu Koh, Kazuo Sengoku
    Abstract:

    Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, 10 novel genes involved in human spermatogenesis, including human SEPTIN12, were identified by expression microarray analysis of human testicular tissue. Septin12 is a member of the septin family of conserved cytoskeletal GTPases that form heteropolymeric filamentous structures in interphase cells. It is expressed specifically in the testis. Therefore, we hypothesized that mutation or polymorphisms of SEPTIN12 participate in male infertility, especially Sertoli Cell-Only Syndrome (SCOS). To investigate whether SEPTIN12 gene defects are associated with azoospermia caused by SCOS, mutational analysis was performed in 100 Japanese patients by direct sequencing of coding regions. Statistical analysis was performed in patients with SCOS and in 140 healthy control men. No mutations were found in SEPTIN12 ; however, 8 coding single-nucleotide polymorphisms (SNP1-SNP8) could be detected in the patients with SCOS. The genotype and allele frequencies in SNP3, SNP4, and SNP6 were notably higher in the SCOS group than in the control group (P < .001). These results suggest that SEPTIN12 might play a critical role in human spermatogenesis.

  • expression of inhibin α glial cell line derived neurotrophic factor and stem cell factor in Sertoli cell only Syndrome relation to successful sperm retrieval by microdissection testicular sperm extraction
    Human Reproduction, 2005
    Co-Authors: Kazutoshi Fujita, Kiyomi Matsumiya, Akira Tsujimura, Yasushi Miyagawa, Tetsuya Takao, M. Koga, M. Takeyama, H. Fujioka, K. Aozasa, Akihiko Okuyama
    Abstract:

    BACKGROUND Microdissection testicular sperm extraction (TESE) has provided new hope for successful sperm retrieval to patients with Sertoli Cell-Only Syndrome (SCO). We determined expression of the inhibin alpha subunit, glial cell line-derived neurotrophic factor (GDNF) and stem cell factor (SCF) in Sertoli cells obtained from patients with SCO immunohistochemically and compared expression rates with rates of microdissection TESE sperm retrieval. METHODS Testicular biopsy specimens were obtained from 52 men with non-obstructive azoospermia who underwent microdissection TESE and were diagnosed with SCO by histological analysis. RESULTS All specimens showed intense staining for the inhibin alpha subunit. Moderate or intense staining for GDNF was observed in 65.8% of specimens. All but one showed moderate or intense staining for SCF. Among specimens negative for GDNF, the sperm retrieval rate was significantly higher (100%) for specimens with intense staining for SCF than for specimens with no or moderate staining (30.7%) (P<0.05) for SCF. CONCLUSION GDNF expression differs among patients with SCO. The sperm retrieval rate was high in cases of no staining for GDNF and intense staining for SCF.

  • Expression of inhibin α, glial cell line-derived neurotrophic factor and stem cell factor in Sertoli Cell-Only Syndrome: relation to successful sperm retrieval by microdissection testicular sperm extraction
    Human reproduction (Oxford England), 2005
    Co-Authors: Kazutoshi Fujita, Kiyomi Matsumiya, Akira Tsujimura, Yasushi Miyagawa, Tetsuya Takao, M. Koga, M. Takeyama, H. Fujioka, K. Aozasa, Akihiko Okuyama
    Abstract:

    BACKGROUND Microdissection testicular sperm extraction (TESE) has provided new hope for successful sperm retrieval to patients with Sertoli Cell-Only Syndrome (SCO). We determined expression of the inhibin alpha subunit, glial cell line-derived neurotrophic factor (GDNF) and stem cell factor (SCF) in Sertoli cells obtained from patients with SCO immunohistochemically and compared expression rates with rates of microdissection TESE sperm retrieval. METHODS Testicular biopsy specimens were obtained from 52 men with non-obstructive azoospermia who underwent microdissection TESE and were diagnosed with SCO by histological analysis. RESULTS All specimens showed intense staining for the inhibin alpha subunit. Moderate or intense staining for GDNF was observed in 65.8% of specimens. All but one showed moderate or intense staining for SCF. Among specimens negative for GDNF, the sperm retrieval rate was significantly higher (100%) for specimens with intense staining for SCF than for specimens with no or moderate staining (30.7%) (P