The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male
The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are rep...
Ausführliche Beschreibung
Autor*in: |
Manish Jain [verfasserIn] Veera Mohan V [verfasserIn] Isha Chaudhary [verfasserIn] Ashutosh Halder [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2013 |
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Übergeordnetes Werk: |
In: Journal of Clinical and Diagnostic Research - JCDR Research and Publications Private Limited, 2009, 7(2013), 7, Seite 1457-1459 |
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Übergeordnetes Werk: |
volume:7 ; year:2013 ; number:7 ; pages:1457-1459 |
Links: |
Link aufrufen |
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DOI / URN: |
10.7860/JCDR/2013/5186.3169 |
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Katalog-ID: |
DOAJ045433917 |
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10.7860/JCDR/2013/5186.3169 doi (DE-627)DOAJ045433917 (DE-599)DOAJec6940e67e6143a0b1de4669450bb009 DE-627 ger DE-627 rakwb eng Manish Jain verfasserin aut The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature. xx male syndrome sex-determining region y positive sertoli cell only glaucoma Medicine R Veera Mohan V verfasserin aut Isha Chaudhary verfasserin aut Ashutosh Halder verfasserin aut In Journal of Clinical and Diagnostic Research JCDR Research and Publications Private Limited, 2009 7(2013), 7, Seite 1457-1459 (DE-627)789478048 (DE-600)2775283-5 0973709X nnns volume:7 year:2013 number:7 pages:1457-1459 https://doi.org/10.7860/JCDR/2013/5186.3169 kostenfrei https://doaj.org/article/ec6940e67e6143a0b1de4669450bb009 kostenfrei https://jcdr.net/articles/PDF/3169/51%20-%205186_E(C)_PF1(PU)_F(H)_PF1(PUH)_PFA(H)_1.pdf kostenfrei https://doaj.org/toc/2249-782X Journal toc kostenfrei https://doaj.org/toc/0973-709X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 7 1457-1459 |
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10.7860/JCDR/2013/5186.3169 doi (DE-627)DOAJ045433917 (DE-599)DOAJec6940e67e6143a0b1de4669450bb009 DE-627 ger DE-627 rakwb eng Manish Jain verfasserin aut The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature. xx male syndrome sex-determining region y positive sertoli cell only glaucoma Medicine R Veera Mohan V verfasserin aut Isha Chaudhary verfasserin aut Ashutosh Halder verfasserin aut In Journal of Clinical and Diagnostic Research JCDR Research and Publications Private Limited, 2009 7(2013), 7, Seite 1457-1459 (DE-627)789478048 (DE-600)2775283-5 0973709X nnns volume:7 year:2013 number:7 pages:1457-1459 https://doi.org/10.7860/JCDR/2013/5186.3169 kostenfrei https://doaj.org/article/ec6940e67e6143a0b1de4669450bb009 kostenfrei https://jcdr.net/articles/PDF/3169/51%20-%205186_E(C)_PF1(PU)_F(H)_PF1(PUH)_PFA(H)_1.pdf kostenfrei https://doaj.org/toc/2249-782X Journal toc kostenfrei https://doaj.org/toc/0973-709X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 7 1457-1459 |
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10.7860/JCDR/2013/5186.3169 doi (DE-627)DOAJ045433917 (DE-599)DOAJec6940e67e6143a0b1de4669450bb009 DE-627 ger DE-627 rakwb eng Manish Jain verfasserin aut The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature. xx male syndrome sex-determining region y positive sertoli cell only glaucoma Medicine R Veera Mohan V verfasserin aut Isha Chaudhary verfasserin aut Ashutosh Halder verfasserin aut In Journal of Clinical and Diagnostic Research JCDR Research and Publications Private Limited, 2009 7(2013), 7, Seite 1457-1459 (DE-627)789478048 (DE-600)2775283-5 0973709X nnns volume:7 year:2013 number:7 pages:1457-1459 https://doi.org/10.7860/JCDR/2013/5186.3169 kostenfrei https://doaj.org/article/ec6940e67e6143a0b1de4669450bb009 kostenfrei https://jcdr.net/articles/PDF/3169/51%20-%205186_E(C)_PF1(PU)_F(H)_PF1(PUH)_PFA(H)_1.pdf kostenfrei https://doaj.org/toc/2249-782X Journal toc kostenfrei https://doaj.org/toc/0973-709X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 7 1457-1459 |
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10.7860/JCDR/2013/5186.3169 doi (DE-627)DOAJ045433917 (DE-599)DOAJec6940e67e6143a0b1de4669450bb009 DE-627 ger DE-627 rakwb eng Manish Jain verfasserin aut The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature. xx male syndrome sex-determining region y positive sertoli cell only glaucoma Medicine R Veera Mohan V verfasserin aut Isha Chaudhary verfasserin aut Ashutosh Halder verfasserin aut In Journal of Clinical and Diagnostic Research JCDR Research and Publications Private Limited, 2009 7(2013), 7, Seite 1457-1459 (DE-627)789478048 (DE-600)2775283-5 0973709X nnns volume:7 year:2013 number:7 pages:1457-1459 https://doi.org/10.7860/JCDR/2013/5186.3169 kostenfrei https://doaj.org/article/ec6940e67e6143a0b1de4669450bb009 kostenfrei https://jcdr.net/articles/PDF/3169/51%20-%205186_E(C)_PF1(PU)_F(H)_PF1(PUH)_PFA(H)_1.pdf kostenfrei https://doaj.org/toc/2249-782X Journal toc kostenfrei https://doaj.org/toc/0973-709X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 7 1457-1459 |
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10.7860/JCDR/2013/5186.3169 doi (DE-627)DOAJ045433917 (DE-599)DOAJec6940e67e6143a0b1de4669450bb009 DE-627 ger DE-627 rakwb eng Manish Jain verfasserin aut The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature. xx male syndrome sex-determining region y positive sertoli cell only glaucoma Medicine R Veera Mohan V verfasserin aut Isha Chaudhary verfasserin aut Ashutosh Halder verfasserin aut In Journal of Clinical and Diagnostic Research JCDR Research and Publications Private Limited, 2009 7(2013), 7, Seite 1457-1459 (DE-627)789478048 (DE-600)2775283-5 0973709X nnns volume:7 year:2013 number:7 pages:1457-1459 https://doi.org/10.7860/JCDR/2013/5186.3169 kostenfrei https://doaj.org/article/ec6940e67e6143a0b1de4669450bb009 kostenfrei https://jcdr.net/articles/PDF/3169/51%20-%205186_E(C)_PF1(PU)_F(H)_PF1(PUH)_PFA(H)_1.pdf kostenfrei https://doaj.org/toc/2249-782X Journal toc kostenfrei https://doaj.org/toc/0973-709X Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 7 1457-1459 |
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The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male |
abstract |
The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature. |
abstractGer |
The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature. |
abstract_unstemmed |
The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature. |
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The Sertoli Cell Only Syndrome and Glaucoma in a Sex – Determining Region Y (SRY) Positive XX Infertile Male |
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