Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity

Abstract Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal...
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Autor*in:	Bukhari, Ihtisham [verfasserIn] Li, Guangyuan [verfasserIn] Wang, Liu [verfasserIn] Iqbal, Furhan [verfasserIn] Zhang, Huan [verfasserIn] Zhu, Jiansheng [verfasserIn] Liu, Hui [verfasserIn] Fang, Xiangdong [verfasserIn] Al-Daghri, Nasser M. [verfasserIn] Cooke, Howard J. [verfasserIn] Zhang, Yuanwei [verfasserIn] Jiang, Xiaohua [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2017

Schlagwörter:	Cryptorchidism Androgen insensitivity syndrome Androgen receptor Sertoli cell only

Übergeordnetes Werk:	Enthalten in: The histochemical journal - Dordrecht [u.a.] : Springer Science + Business Media B.V., 1968, 48(2017), 3 vom: 15. März, Seite 159-167
Übergeordnetes Werk:	volume:48 ; year:2017 ; number:3 ; day:15 ; month:03 ; pages:159-167

Links:	Volltext

DOI / URN:	10.1007/s10735-017-9714-7

Katalog-ID:	SPR012836990

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520			\|a Abstract Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. Therefore, we suggest that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells.
650		4	\|a Cryptorchidism \|7 (dpeaa)DE-He213
650		4	\|a Androgen insensitivity syndrome \|7 (dpeaa)DE-He213
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700	1		\|a Cooke, Howard J. \|e verfasserin \|4 aut
700	1		\|a Zhang, Yuanwei \|e verfasserin \|4 aut
700	1		\|a Jiang, Xiaohua \|e verfasserin \|4 aut
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allfields	10.1007/s10735-017-9714-7 doi (DE-627)SPR012836990 (SPR)s10735-017-9714-7-e DE-627 ger DE-627 rakwb eng 540 610 ASE 44.35 bkl 42.15 bkl Bukhari, Ihtisham verfasserin aut Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. Therefore, we suggest that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells. Cryptorchidism (dpeaa)DE-He213 Androgen insensitivity syndrome (dpeaa)DE-He213 Androgen receptor (dpeaa)DE-He213 Sertoli cell only (dpeaa)DE-He213 Li, Guangyuan verfasserin aut Wang, Liu verfasserin aut Iqbal, Furhan verfasserin aut Zhang, Huan verfasserin aut Zhu, Jiansheng verfasserin aut Liu, Hui verfasserin aut Fang, Xiangdong verfasserin aut Al-Daghri, Nasser M. verfasserin aut Cooke, Howard J. verfasserin aut Zhang, Yuanwei verfasserin aut Jiang, Xiaohua verfasserin aut Enthalten in The histochemical journal Dordrecht [u.a.] : Springer Science + Business Media B.V., 1968 48(2017), 3 vom: 15. März, Seite 159-167 (DE-627)503327638 (DE-600)2210318-1 1573-6865 nnns volume:48 year:2017 number:3 day:15 month:03 pages:159-167 https://dx.doi.org/10.1007/s10735-017-9714-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_120 GBV_ILN_138 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 44.35 ASE 42.15 ASE AR 48 2017 3 15 03 159-167
spelling	10.1007/s10735-017-9714-7 doi (DE-627)SPR012836990 (SPR)s10735-017-9714-7-e DE-627 ger DE-627 rakwb eng 540 610 ASE 44.35 bkl 42.15 bkl Bukhari, Ihtisham verfasserin aut Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. Therefore, we suggest that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells. Cryptorchidism (dpeaa)DE-He213 Androgen insensitivity syndrome (dpeaa)DE-He213 Androgen receptor (dpeaa)DE-He213 Sertoli cell only (dpeaa)DE-He213 Li, Guangyuan verfasserin aut Wang, Liu verfasserin aut Iqbal, Furhan verfasserin aut Zhang, Huan verfasserin aut Zhu, Jiansheng verfasserin aut Liu, Hui verfasserin aut Fang, Xiangdong verfasserin aut Al-Daghri, Nasser M. verfasserin aut Cooke, Howard J. verfasserin aut Zhang, Yuanwei verfasserin aut Jiang, Xiaohua verfasserin aut Enthalten in The histochemical journal Dordrecht [u.a.] : Springer Science + Business Media B.V., 1968 48(2017), 3 vom: 15. März, Seite 159-167 (DE-627)503327638 (DE-600)2210318-1 1573-6865 nnns volume:48 year:2017 number:3 day:15 month:03 pages:159-167 https://dx.doi.org/10.1007/s10735-017-9714-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_120 GBV_ILN_138 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 44.35 ASE 42.15 ASE AR 48 2017 3 15 03 159-167
allfields_unstemmed	10.1007/s10735-017-9714-7 doi (DE-627)SPR012836990 (SPR)s10735-017-9714-7-e DE-627 ger DE-627 rakwb eng 540 610 ASE 44.35 bkl 42.15 bkl Bukhari, Ihtisham verfasserin aut Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. Therefore, we suggest that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells. Cryptorchidism (dpeaa)DE-He213 Androgen insensitivity syndrome (dpeaa)DE-He213 Androgen receptor (dpeaa)DE-He213 Sertoli cell only (dpeaa)DE-He213 Li, Guangyuan verfasserin aut Wang, Liu verfasserin aut Iqbal, Furhan verfasserin aut Zhang, Huan verfasserin aut Zhu, Jiansheng verfasserin aut Liu, Hui verfasserin aut Fang, Xiangdong verfasserin aut Al-Daghri, Nasser M. verfasserin aut Cooke, Howard J. verfasserin aut Zhang, Yuanwei verfasserin aut Jiang, Xiaohua verfasserin aut Enthalten in The histochemical journal Dordrecht [u.a.] : Springer Science + Business Media B.V., 1968 48(2017), 3 vom: 15. März, Seite 159-167 (DE-627)503327638 (DE-600)2210318-1 1573-6865 nnns volume:48 year:2017 number:3 day:15 month:03 pages:159-167 https://dx.doi.org/10.1007/s10735-017-9714-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_120 GBV_ILN_138 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 44.35 ASE 42.15 ASE AR 48 2017 3 15 03 159-167
allfieldsGer	10.1007/s10735-017-9714-7 doi (DE-627)SPR012836990 (SPR)s10735-017-9714-7-e DE-627 ger DE-627 rakwb eng 540 610 ASE 44.35 bkl 42.15 bkl Bukhari, Ihtisham verfasserin aut Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. Therefore, we suggest that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells. Cryptorchidism (dpeaa)DE-He213 Androgen insensitivity syndrome (dpeaa)DE-He213 Androgen receptor (dpeaa)DE-He213 Sertoli cell only (dpeaa)DE-He213 Li, Guangyuan verfasserin aut Wang, Liu verfasserin aut Iqbal, Furhan verfasserin aut Zhang, Huan verfasserin aut Zhu, Jiansheng verfasserin aut Liu, Hui verfasserin aut Fang, Xiangdong verfasserin aut Al-Daghri, Nasser M. verfasserin aut Cooke, Howard J. verfasserin aut Zhang, Yuanwei verfasserin aut Jiang, Xiaohua verfasserin aut Enthalten in The histochemical journal Dordrecht [u.a.] : Springer Science + Business Media B.V., 1968 48(2017), 3 vom: 15. März, Seite 159-167 (DE-627)503327638 (DE-600)2210318-1 1573-6865 nnns volume:48 year:2017 number:3 day:15 month:03 pages:159-167 https://dx.doi.org/10.1007/s10735-017-9714-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_120 GBV_ILN_138 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 44.35 ASE 42.15 ASE AR 48 2017 3 15 03 159-167
allfieldsSound	10.1007/s10735-017-9714-7 doi (DE-627)SPR012836990 (SPR)s10735-017-9714-7-e DE-627 ger DE-627 rakwb eng 540 610 ASE 44.35 bkl 42.15 bkl Bukhari, Ihtisham verfasserin aut Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. Therefore, we suggest that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells. Cryptorchidism (dpeaa)DE-He213 Androgen insensitivity syndrome (dpeaa)DE-He213 Androgen receptor (dpeaa)DE-He213 Sertoli cell only (dpeaa)DE-He213 Li, Guangyuan verfasserin aut Wang, Liu verfasserin aut Iqbal, Furhan verfasserin aut Zhang, Huan verfasserin aut Zhu, Jiansheng verfasserin aut Liu, Hui verfasserin aut Fang, Xiangdong verfasserin aut Al-Daghri, Nasser M. verfasserin aut Cooke, Howard J. verfasserin aut Zhang, Yuanwei verfasserin aut Jiang, Xiaohua verfasserin aut Enthalten in The histochemical journal Dordrecht [u.a.] : Springer Science + Business Media B.V., 1968 48(2017), 3 vom: 15. März, Seite 159-167 (DE-627)503327638 (DE-600)2210318-1 1573-6865 nnns volume:48 year:2017 number:3 day:15 month:03 pages:159-167 https://dx.doi.org/10.1007/s10735-017-9714-7 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_120 GBV_ILN_138 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 44.35 ASE 42.15 ASE AR 48 2017 3 15 03 159-167
language	English
source	Enthalten in The histochemical journal 48(2017), 3 vom: 15. März, Seite 159-167 volume:48 year:2017 number:3 day:15 month:03 pages:159-167
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topic_facet	Cryptorchidism Androgen insensitivity syndrome Androgen receptor Sertoli cell only
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container_title	The histochemical journal
authorswithroles_txt_mv	Bukhari, Ihtisham @@aut@@ Li, Guangyuan @@aut@@ Wang, Liu @@aut@@ Iqbal, Furhan @@aut@@ Zhang, Huan @@aut@@ Zhu, Jiansheng @@aut@@ Liu, Hui @@aut@@ Fang, Xiangdong @@aut@@ Al-Daghri, Nasser M. @@aut@@ Cooke, Howard J. @@aut@@ Zhang, Yuanwei @@aut@@ Jiang, Xiaohua @@aut@@
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author	Bukhari, Ihtisham
spellingShingle	Bukhari, Ihtisham ddc 540 bkl 44.35 bkl 42.15 misc Cryptorchidism misc Androgen insensitivity syndrome misc Androgen receptor misc Sertoli cell only Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity
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topic_title	540 610 ASE 44.35 bkl 42.15 bkl Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity Cryptorchidism (dpeaa)DE-He213 Androgen insensitivity syndrome (dpeaa)DE-He213 Androgen receptor (dpeaa)DE-He213 Sertoli cell only (dpeaa)DE-He213
topic	ddc 540 bkl 44.35 bkl 42.15 misc Cryptorchidism misc Androgen insensitivity syndrome misc Androgen receptor misc Sertoli cell only
topic_unstemmed	ddc 540 bkl 44.35 bkl 42.15 misc Cryptorchidism misc Androgen insensitivity syndrome misc Androgen receptor misc Sertoli cell only
topic_browse	ddc 540 bkl 44.35 bkl 42.15 misc Cryptorchidism misc Androgen insensitivity syndrome misc Androgen receptor misc Sertoli cell only
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title	Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity
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title_full	Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity
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author_browse	Bukhari, Ihtisham Li, Guangyuan Wang, Liu Iqbal, Furhan Zhang, Huan Zhu, Jiansheng Liu, Hui Fang, Xiangdong Al-Daghri, Nasser M. Cooke, Howard J. Zhang, Yuanwei Jiang, Xiaohua
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title_sort	effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity
title_auth	Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity
abstract	Abstract Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. Therefore, we suggest that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells.
abstractGer	Abstract Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. Therefore, we suggest that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells.
abstract_unstemmed	Abstract Androgens are required for normal male sex differentiation and development of male secondary sexual characteristics. Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. Therefore, we suggest that the dysfunctioning of AR by mutation enhances AMH expression which ultimately leads to the failure in maturation of Sertoli cells.
collection_details	GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_120 GBV_ILN_138 GBV_ILN_152 GBV_ILN_161 GBV_ILN_171 GBV_ILN_187 GBV_ILN_224 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702
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title_short	Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity
url	https://dx.doi.org/10.1007/s10735-017-9714-7
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author2	Li, Guangyuan Wang, Liu Iqbal, Furhan Zhang, Huan Zhu, Jiansheng Liu, Hui Fang, Xiangdong Al-Daghri, Nasser M. Cooke, Howard J. Zhang, Yuanwei Jiang, Xiaohua
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up_date	2024-07-03T15:40:13.894Z
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Mutations in AR gene are known to cause defects in male sexual differentiation. In current study, we enrolled a 46,XY phenotypically female patient bearing testes in inguinal canal. DNA sequencing of the AR gene detected a missense mutation C.1715A > G (p. Y572C) in exon 2 which is already known to cause complete androgen insensitivity syndrome (CAIS). We focused on the effects of this mutation on the testicular histopathology of the patient. Surface spreading of testicular tissues showed an absence of spermatocytes while H&E staining showed that seminiferous tubules predominantly have only Sertoli cells. This meiotic failure is likely due to the effect of the AR mutation which ultimately leads to Sertoli cell only syndrome. Tubules were stained with SOX9 and AMH which revealed Sertoli cells maturation arrest. Western blot and realtime PCR data showed that patient had higher levels of AMH, SOX9 and inhibin-B in the testis. 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Effects of androgen receptor mutation on testicular histopathology of patient having complete androgen insensitivity

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