Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients

Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and a...
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Autor*in:	Hong-Juan Tian [verfasserIn] De-Hua Wu [verfasserIn] Wei Ru [verfasserIn] Ding-Wen Wu [verfasserIn] Chang Tao [verfasserIn] Guang-Jie Chen [verfasserIn] Jin-Na Yuan [verfasserIn] Jun-Fen Fu [verfasserIn] Da-Xing Tang [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	amh; amhr2; disorders of sex development; persistent müllerian duct syndrome

Übergeordnetes Werk:	In: Asian Journal of Andrology - Wolters Kluwer Medknow Publications, 2014, 24(2022), 1, Seite 78-84
Übergeordnetes Werk:	volume:24 ; year:2022 ; number:1 ; pages:78-84

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.4103/aja202175

Katalog-ID:	DOAJ014060965

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520			\|a Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.
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allfields	10.4103/aja202175 doi (DE-627)DOAJ014060965 (DE-599)DOAJf80601781a5544018cd4842f58de9694 DE-627 ger DE-627 rakwb eng RC870-923 Hong-Juan Tian verfasserin aut Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus. amh; amhr2; disorders of sex development; persistent müllerian duct syndrome Diseases of the genitourinary system. Urology De-Hua Wu verfasserin aut Wei Ru verfasserin aut Ding-Wen Wu verfasserin aut Chang Tao verfasserin aut Guang-Jie Chen verfasserin aut Jin-Na Yuan verfasserin aut Jun-Fen Fu verfasserin aut Da-Xing Tang verfasserin aut In Asian Journal of Andrology Wolters Kluwer Medknow Publications, 2014 24(2022), 1, Seite 78-84 (DE-627)352261013 (DE-600)2085228-9 17457262 nnns volume:24 year:2022 number:1 pages:78-84 https://doi.org/10.4103/aja202175 kostenfrei https://doaj.org/article/f80601781a5544018cd4842f58de9694 kostenfrei http://www.ajandrology.com/article.asp?issn=1008-682X;year=2022;volume=24;issue=1;spage=78;epage=84;aulast=Tian kostenfrei https://doaj.org/toc/1008-682X Journal toc kostenfrei https://doaj.org/toc/1745-7262 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_2003 GBV_ILN_2014 GBV_ILN_2153 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 24 2022 1 78-84
spelling	10.4103/aja202175 doi (DE-627)DOAJ014060965 (DE-599)DOAJf80601781a5544018cd4842f58de9694 DE-627 ger DE-627 rakwb eng RC870-923 Hong-Juan Tian verfasserin aut Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus. amh; amhr2; disorders of sex development; persistent müllerian duct syndrome Diseases of the genitourinary system. Urology De-Hua Wu verfasserin aut Wei Ru verfasserin aut Ding-Wen Wu verfasserin aut Chang Tao verfasserin aut Guang-Jie Chen verfasserin aut Jin-Na Yuan verfasserin aut Jun-Fen Fu verfasserin aut Da-Xing Tang verfasserin aut In Asian Journal of Andrology Wolters Kluwer Medknow Publications, 2014 24(2022), 1, Seite 78-84 (DE-627)352261013 (DE-600)2085228-9 17457262 nnns volume:24 year:2022 number:1 pages:78-84 https://doi.org/10.4103/aja202175 kostenfrei https://doaj.org/article/f80601781a5544018cd4842f58de9694 kostenfrei http://www.ajandrology.com/article.asp?issn=1008-682X;year=2022;volume=24;issue=1;spage=78;epage=84;aulast=Tian kostenfrei https://doaj.org/toc/1008-682X Journal toc kostenfrei https://doaj.org/toc/1745-7262 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_2003 GBV_ILN_2014 GBV_ILN_2153 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 24 2022 1 78-84
allfields_unstemmed	10.4103/aja202175 doi (DE-627)DOAJ014060965 (DE-599)DOAJf80601781a5544018cd4842f58de9694 DE-627 ger DE-627 rakwb eng RC870-923 Hong-Juan Tian verfasserin aut Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus. amh; amhr2; disorders of sex development; persistent müllerian duct syndrome Diseases of the genitourinary system. Urology De-Hua Wu verfasserin aut Wei Ru verfasserin aut Ding-Wen Wu verfasserin aut Chang Tao verfasserin aut Guang-Jie Chen verfasserin aut Jin-Na Yuan verfasserin aut Jun-Fen Fu verfasserin aut Da-Xing Tang verfasserin aut In Asian Journal of Andrology Wolters Kluwer Medknow Publications, 2014 24(2022), 1, Seite 78-84 (DE-627)352261013 (DE-600)2085228-9 17457262 nnns volume:24 year:2022 number:1 pages:78-84 https://doi.org/10.4103/aja202175 kostenfrei https://doaj.org/article/f80601781a5544018cd4842f58de9694 kostenfrei http://www.ajandrology.com/article.asp?issn=1008-682X;year=2022;volume=24;issue=1;spage=78;epage=84;aulast=Tian kostenfrei https://doaj.org/toc/1008-682X Journal toc kostenfrei https://doaj.org/toc/1745-7262 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_2003 GBV_ILN_2014 GBV_ILN_2153 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 24 2022 1 78-84
allfieldsGer	10.4103/aja202175 doi (DE-627)DOAJ014060965 (DE-599)DOAJf80601781a5544018cd4842f58de9694 DE-627 ger DE-627 rakwb eng RC870-923 Hong-Juan Tian verfasserin aut Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus. amh; amhr2; disorders of sex development; persistent müllerian duct syndrome Diseases of the genitourinary system. Urology De-Hua Wu verfasserin aut Wei Ru verfasserin aut Ding-Wen Wu verfasserin aut Chang Tao verfasserin aut Guang-Jie Chen verfasserin aut Jin-Na Yuan verfasserin aut Jun-Fen Fu verfasserin aut Da-Xing Tang verfasserin aut In Asian Journal of Andrology Wolters Kluwer Medknow Publications, 2014 24(2022), 1, Seite 78-84 (DE-627)352261013 (DE-600)2085228-9 17457262 nnns volume:24 year:2022 number:1 pages:78-84 https://doi.org/10.4103/aja202175 kostenfrei https://doaj.org/article/f80601781a5544018cd4842f58de9694 kostenfrei http://www.ajandrology.com/article.asp?issn=1008-682X;year=2022;volume=24;issue=1;spage=78;epage=84;aulast=Tian kostenfrei https://doaj.org/toc/1008-682X Journal toc kostenfrei https://doaj.org/toc/1745-7262 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_2003 GBV_ILN_2014 GBV_ILN_2153 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 24 2022 1 78-84
allfieldsSound	10.4103/aja202175 doi (DE-627)DOAJ014060965 (DE-599)DOAJf80601781a5544018cd4842f58de9694 DE-627 ger DE-627 rakwb eng RC870-923 Hong-Juan Tian verfasserin aut Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus. amh; amhr2; disorders of sex development; persistent müllerian duct syndrome Diseases of the genitourinary system. Urology De-Hua Wu verfasserin aut Wei Ru verfasserin aut Ding-Wen Wu verfasserin aut Chang Tao verfasserin aut Guang-Jie Chen verfasserin aut Jin-Na Yuan verfasserin aut Jun-Fen Fu verfasserin aut Da-Xing Tang verfasserin aut In Asian Journal of Andrology Wolters Kluwer Medknow Publications, 2014 24(2022), 1, Seite 78-84 (DE-627)352261013 (DE-600)2085228-9 17457262 nnns volume:24 year:2022 number:1 pages:78-84 https://doi.org/10.4103/aja202175 kostenfrei https://doaj.org/article/f80601781a5544018cd4842f58de9694 kostenfrei http://www.ajandrology.com/article.asp?issn=1008-682X;year=2022;volume=24;issue=1;spage=78;epage=84;aulast=Tian kostenfrei https://doaj.org/toc/1008-682X Journal toc kostenfrei https://doaj.org/toc/1745-7262 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_2003 GBV_ILN_2014 GBV_ILN_2153 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 24 2022 1 78-84
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source	In Asian Journal of Andrology 24(2022), 1, Seite 78-84 volume:24 year:2022 number:1 pages:78-84
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topic_facet	amh; amhr2; disorders of sex development; persistent müllerian duct syndrome Diseases of the genitourinary system. Urology
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topic_title	RC870-923 Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients amh; amhr2; disorders of sex development; persistent müllerian duct syndrome
topic	misc RC870-923 misc amh; amhr2; disorders of sex development; persistent müllerian duct syndrome misc Diseases of the genitourinary system. Urology
topic_unstemmed	misc RC870-923 misc amh; amhr2; disorders of sex development; persistent müllerian duct syndrome misc Diseases of the genitourinary system. Urology
topic_browse	misc RC870-923 misc amh; amhr2; disorders of sex development; persistent müllerian duct syndrome misc Diseases of the genitourinary system. Urology
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title	Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients
ctrlnum	(DE-627)DOAJ014060965 (DE-599)DOAJf80601781a5544018cd4842f58de9694
title_full	Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients
author_sort	Hong-Juan Tian
journal	Asian Journal of Andrology
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author_browse	Hong-Juan Tian De-Hua Wu Wei Ru Ding-Wen Wu Chang Tao Guang-Jie Chen Jin-Na Yuan Jun-Fen Fu Da-Xing Tang
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author-letter	Hong-Juan Tian
doi_str_mv	10.4103/aja202175
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title_sort	surgical management and molecular diagnosis of persistent müllerian duct syndrome in chinese patients
callnumber	RC870-923
title_auth	Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients
abstract	Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.
abstractGer	Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.
abstract_unstemmed	Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as “pathogenic” or “likely pathogenic”, and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.
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title_short	Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients
url	https://doi.org/10.4103/aja202175 https://doaj.org/article/f80601781a5544018cd4842f58de9694 http://www.ajandrology.com/article.asp?issn=1008-682X;year=2022;volume=24;issue=1;spage=78;epage=84;aulast=Tian https://doaj.org/toc/1008-682X https://doaj.org/toc/1745-7262
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