All individuals with variants in gene NR5A1

102 entries on 2 pages. Showing entries 1 - 100.
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00132768 - - - M no China Hong Kong - - - - SRXY sex reversal, NR5A1-related; ambiguous external genitalia 1 1 Angel Chan
00132769 - - family, 7 affecteds M no Indonesia - - - - - SRXY ambiguous genitalia and gynaecomastia, severe penoscrotal hypospadias, bifid scrotum, micro penis, small bilateral testis (2-3 ml) and primary infertility 1 7 Stefanie Eggers
00165039 Gly165Arg PubMed: Sreenivasan 2018, Journal: Sreenivasan 2018, contributed by Ken McElreavey (Institut Pasteur) 46,XY DSD - - France - - - - - SRXY3 see paper; ..., normal adrenal phenotype, male external genitalia, absent Müllerian cells, normal testis 1 1 Vincent Russel Harley
00165040 D8G PubMed: Sreenivasan 2018, Journal: Sreenivasan 2018, contributed by Ken McElreavey (Institut Pasteur) - - - France - - - - - SRXY3 see paper; ..., complete gonadal dysgenesis, female external genitalia, normal adrenal phenotype, Müllerian cells present, streak gonads (no evidence of tubules) 1 1 Vincent Russel Harley
00226682 patient 5 PubMed: Fabbri-Scallet 2017 - M - Brazil - - - - - SRXY3 urethral opening penoscrotal, gonadal location (L/R) labioscrotal folds, low basal testosterone, partial testosterone response to hCG testing, dysgenetic testes bilaterally 1 1 Helena Fabbri-Scallet
00227771 patient 4 PubMed: Fabbri-Scallet 2017 46,XY DSD - - Brazil - - - - - SRXY3 1.5 cm phallus, both gonads palpable in the inguinal channel, no Müllerian derivatives. 1 1 Helena Fabbri-Scallet
00227772 patient 6 PubMed: Fabbri-Scallet 2017 46,XY DSD - - Brazil - - - - - SRXY3 5.5 cm phallus with chordee, penoscrotal urethral opening, right gonad palpable in inguinal channel and left gonad palpable in labioscrotal fold. No Müllerian derivatives. 1 1 Helena Fabbri-Scallet
00227773 patient 7 PubMed: Fabbri-Scallet 2017 46,XY DSD - - Brazil - - - - - SRXY3 3.5 cm phallus with chordee, perineal urethral opening and both gonads palpable in labioscrotal folds. Male internal genitalia, with no uterus. Dysgenetic testis bilaterally. 1 1 Helena Fabbri-Scallet
00227774 patient 1/2/3 PubMed: Fabbri 2014 46,XY DSD; three siblings affected, heterozygous carrier mother - - Brazil - - - - - SRXY3 2-cm phallus, single perineal opening, palpable gonads in the labioscrotal folds. Laboratory data indicated high levels of FSH but normal levels of LH, and a normal testosterone response to hCG test. Absence of mullerian derivatives. 1 3 Helena Fabbri-Scallet
00227818 patient 1 PubMed: Fabbri 2016 46,XY DSD - - Brazil - - - - - SRXY3 2.5 cm phallus with chordee, single penoscrotal urethral opening, bilaterally palpable gonads in the inguinal region. Streak gonad showing fibrous tissue without gonadal elements only on the right side and a dysgenetic testis on the left side. 1 1 Helena Fabbri-Scallet
00227861 patient 2 PubMed: Fabbri 2016 46,XY DSD - - Brazil - - - - - SRXY3 2.3 cm phallus with chordee and 2 urethral orifices, both gonads palpable on inguinal channel, no Müllerian derivatives. Dysgenetic testis. 1 1 Helena Fabbri-Scallet
00227862 patient 3 PubMed: Fabbri 2016 46,XY DSD - - Brazil - - - - - SRXY3 1 cm phallus with chordee and a penoscrotal urethral opening, gonads were not palpable, no Müllerian derivatives. Dysgenetic testis. 1 1 Helena Fabbri-Scallet
00227863 patient PubMed: Achermann 1999 2-generation family, unaffected non-carrier parents rF - United States - - - - - SRXY see paper; …, primary adrenal failure, complete gonadal dysgenesis, T-deficiency, female external genitalia, Müllerian cells, streak gonads (poorly differentiated tubules) 1 1 Johan den Dunnen
00227864 patient PubMed: Biason-Lauber 2000 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227865 patient PubMed: Achermann 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents/sister rF - United States - - - - - SRXY see paper; …, adrenal failure, female external genitalia, Müllerian cells 1 4 Johan den Dunnen
00227866 patient PubMed: WuQiang 2003 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227867 patient PubMed: Correa 2004 - rF - United States - - - - - SRXY see paper; …, no adrenal failure, ambiguous external genitalia, regressed testicular dysgenesis, no Müllerian structures 1 1 Johan den Dunnen
00227868 patient PubMed: Mallet 2004 - - - France - - - - - SRXY see paper; …, gonadal dysgenesis, normal adrenal function, low basal levels of AMH/testosterone (T), weak T response to hCG, hypoplastic testes with abundant seminiferous tubules, rare germ cells 1 1 Johan den Dunnen
00227869 patient PubMed: Hasegawa 2004 - rF - Japan - - - - - SRXY see paper; …, no adrenal failure, ambiguous external genitalia, mild testicular dysgenesis, no Müllerian cells 1 1 Johan den Dunnen
00227870 patient 2 PubMed: Lin 2007 - rF - Italy - - - - - SRXY see paper; …, no adrenal failure, phenotype female, inguinal gonad position, remnant Müllerian structures; histology testis, germ cells 1 1 Johan den Dunnen
00227871 patient 1 PubMed: Lin 2007 - rF - United Kingdom (Great Britain) - - - - - SRXY see paper; …, phenotype female, labial rugosity, labial gonad position, absent Müllerian structures; histology testis, germ cells 1 1 Johan den Dunnen
00227872 patient 4 PubMed: Lin 2007 - rM - United Kingdom (Great Britain) white - - - - SRXY see paper; …, small phallus, penoscrotal hypospadias, high scrotal gonad position, absent Müllerian structures, partial hypogonadotropic hypogonadism; histology hyalinized testis, few germ cells 1 1 Johan den Dunnen
00227873 patient 3 PubMed: Lin 2007 - rF - Fiji - - - - - SRXY see paper; …, clitoral enlargement, labioscrotal folds, labioscrotal gonad position, remnant Müllerian structures; histology testis, germ cells 1 1 Johan den Dunnen
00227874 patient PubMed: Coutant 2007 - - - - - - - - - SRXY see paper; … 1 1 Johan den Dunnen
00227875 patient PubMed: Reuter 2007 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227876 patient 2 PubMed: Kohler 2008 - rF - Germany - - - - - SRXY see paper; …, clitoromegaly, urogenital sinus, inguinal gonads, no uterus, epididymis, vas deferens; gonadal histology bilateral testes 1 1 Johan den Dunnen
00227877 patient 3 PubMed: Kohler 2008 - rF - Germany - - - - - SRXY see paper; …, clitoromegaly, urogenital sinuss, inguinal gonads, no uterus, epididymis and vas deferens; gonadal histology bilateral testes, Sertoli cells only 1 1 Johan den Dunnen
00227878 patient 1 PubMed: Kohler 2008 - rF - Germany - - - - - SRXY see paper; …, clitoromegaly, urogenital sinus, inguinal gonads, no uterus, epididymis, vas deferens; gonadal histology bilateral testes, Sertoli rich, few spermatogonia and Leydig cells 1 1 Johan den Dunnen
00227879 patient 5 PubMed: Kohler 2008 - rF - Germany - - - - - SRXY see paper; …, no adrenal failure, normal female genitalia, no aplpable gonads, uterus, Müllerian cells; gonadal histology bilateral streak gonads 2 1 Johan den Dunnen
00227880 patient 4 PubMed: Kohler 2008 - rF - Germany - - - - - SRXY see paper; …, clitoromegaly urogenital sinus, inguinal gonads, no uterus, epididymis, vas deferens; gonadal histology bilateral testes 1 1 Johan den Dunnen
00227881 patient PubMed: Philibert 2007 heterozygous carrier mother and dizygotic twin brother rM - France - - - - - ? see paper; …,micropenis, testicular regression 1 1 Johan den Dunnen
00227882 patient PubMed: Lourenço 2009 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227883 patient PubMed: Lourenço 2009 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227884 patient PubMed: Lourenço 2009 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227885 patient PubMed: Lourenço 2009 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227886 patient PubMed: Lourenço 2009 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227887 patient PubMed: Tajima 2009 - - - - - - - - - SRXY see paper; … 1 1 Johan den Dunnen
00227888 patient PubMed: Köhler 2009 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227889 patient PubMed: Köhler 2009 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227890 patient PubMed: Köhler 2009 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227891 patient 3 PubMed: Philibert 2010 - rF - France - - - - - ? see paper; … 1 1 Johan den Dunnen
00227892 patient 4 PubMed: Philibert 2010 - rF - France - - - - - ? see paper; …, amenorrhea, clitoromegaly,g onads in labia 1 1 Johan den Dunnen
00227893 patient 7 PubMed: Philibert 2010 - rF - France - - - - - ? see paper; … 1 1 Johan den Dunnen
00227894 patient 5 PubMed: Philibert 2010 - rF - France - - - - - ? see paper; …, amenorrhea, clitoromegaly, testicular tissue/inguinal region 1 1 Johan den Dunnen
00227895 patient 6 PubMed: Philibert 2010 - rF - France - - - - - ? see paper; …, amenorrhea, clitoromegaly, virilization 1 1 Johan den Dunnen
00227896 patient PubMed: Li 2011 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227897 patient PubMed: Warman 2011 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227898 patient PubMed: Warman 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development 1 1 Johan den Dunnen
00227899 patient PubMed: Warman 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development 1 1 Johan den Dunnen
00227900 patient PubMed: Bashamboo 2010 - - - - - - - - - SPGF see paper; … 1 1 Johan den Dunnen
00227901 patient PubMed: Bashamboo 2010 - - - - - - - - - SPGF see paper; … 1 1 Johan den Dunnen
00227902 patient PubMed: Bashamboo 2010 - - - - - - - - - SPGF see paper; … 1 1 Johan den Dunnen
00227903 patient PubMed: Bashamboo 2010 - - - - - - - - - SPGF see paper; … 1 1 Johan den Dunnen
00227904 patient PubMed: Philibert 2011 unaffected heterozygous mosaic father rM - France - - - - - ? see paper; …, hypospadias, micropenis, puberty developed spontaneously with a rise in T levels/normal LH contrasting with high FSH and low inhibin B concentrations, revealing a Sertoli cell defect 1 1 Johan den Dunnen
00227905 patient PubMed: Paliwal 2011 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227906 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development 1 1 Johan den Dunnen
00227907 patient PubMed: Philibert 2011 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227908 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development 1 1 Johan den Dunnen
00227909 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; … 1 1 Johan den Dunnen
00227910 patient PubMed: Philibert 2011 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227911 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development 1 1 Johan den Dunnen
00227912 patient PubMed: Philibert 2011 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227913 patient PubMed: Philibert 2011 - - - - - - - - - ? see paper; … 1 1 Johan den Dunnen
00227914 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development 1 1 Johan den Dunnen
00227915 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development 1 1 Johan den Dunnen
00227916 patient PubMed: Sinha 2011 - - - - - - - - - SRXY see paper; … 1 1 Johan den Dunnen
00227917 patient 5 PubMed: Allali 2011 - rM - France - - - - - SRXY see paper; …, 46,XY disorder of sex development, meatus glandular; genitalia hypospadias, phallus 33×15 mm, testes 18 mm in scrotum 1 1 Johan den Dunnen
00227918 patient 1 PubMed: Allali 2011 heterozygous apparently healthy mother rM - France - - - - - SRXY see paper; …, 46,XY disorder of sex development, meatus penoscrota; genitalia ambiguous phallus 20×10 mm, testis 17 mm, right in scrotum, left inguinal; genitography: vaginal rest 20 mm 1 1 Johan den Dunnen
00227919 patient 4 PubMed: Allali 2011 - rM - France - - - - - SRXY see paper; …, 46,XY disorder of sex development, meatus penoscrotal; genitalia ambiguous, Prader III, phallus 17×7 mm, gonads 18 mm in scrotum 1 1 Johan den Dunnen
00227920 parents/sister PubMed: Achermann 2002 parents/sister F;M - United States - - - - - Healthy/Control - 1 3 Johan den Dunnen
00227923 patient 2 PubMed: Allali 2011 - rF - France - - - - - ? see paper; ..., meatus penoscrotal; genitalia ambiguous, Prader III, phallus 20 mm, testis 20 mm in labia, surgery: vaginal rest 15 mm 1 1 Johan den Dunnen
00227924 patient 3 PubMed: Allali 2011 - rM - France - - - - - ? see paper; ..., meatus ppenoscrotal; genitalia ambiguous, Prader III, phallus 15×10 mm, testes in scrotum 1 1 Johan den Dunnen
00230585 - Fabbri-Scallet, submitted 2019 46,XY DSD - - Brazil - - - - - SRXY3 Urethral penoscrotal opening, palpable gonads in the labioscrotal folds. Absence of mullerian derivatives. 1 1 Helena Fabbri-Scallet
00230586 - Fabbri-Scallet, submitted 2019 46,XY DSD - - Brazil - - - - - SRXY3 Perineal urethral opening, predominantly female external genitalia, no palpable gonads. Presence of uterus. Dysgenetic testis. 1 1 Helena Fabbri-Scallet
00230587 - Fabbri-Scallet, submitted 2019 46,XY DSD - - Brazil - - - - - SRXY3 single penoscrotal urethral opening, palpable gonads, normal testosterone production 1 1 Helena Fabbri-Scallet
00230588 - Fabbri-Scallet, submitted 2019 46,XY DSD - - Brazil - - - - - SRXY3 Primary amenorrhea and absence of secondary female sex characteristics. 3-cm phallus, female urethra and a vaginal opening, no gonads were palpable. Mullerian derivatives absent. Dysgenetic testis. 1 1 Helena Fabbri-Scallet
00230589 - Fabbri-Scallet, submitted 2019 46,XY DSD - - Brazil - - - - - SRXY3 single perineal opening, palpable gonads in the labioscrotal folds. Absence of mullerian derivatives. Dysgenetic testis. 1 1 Helena Fabbri-Scallet
00231415 Pat3 PubMed: Eggers 2016 - rF - - - - - - - DSD complete gonadal dysgenesis 1 1 Johan den Dunnen
00231419 Pat12 PubMed: Eggers 2016 - rF - - - - - - - DSD complete gonadal dysgenesis 1 1 Johan den Dunnen
00231438 Pat48 PubMed: Eggers 2016 - M - - - - - - - DSD disorders of androgen synthesis or action 1 1 Johan den Dunnen
00231452 Pat71 PubMed: Eggers 2016 - - - - - - - - - DSD disorder of sex development 1 1 Johan den Dunnen
00231454 Pat74 PubMed: Eggers 2016 - M - - - - - - - DSD disorder of sex development 2 1 Johan den Dunnen
00231459 Pat79 PubMed: Eggers 2016 - - - - - - - - - DSD disorder of sex development 1 1 Johan den Dunnen
00231462 Pat83 PubMed: Eggers 2016 - - - - - - - - - DSD disorder of sex development 1 1 Johan den Dunnen
00231477 Pat120 PubMed: Eggers 2016 - M - - - - - - - DSD disorder of sex development 1 1 Johan den Dunnen
00231486 Pat144 PubMed: Eggers 2016 - - - - - - - - - DSD disorder of sex development 1 1 Johan den Dunnen
00231487 Pat146 PubMed: Eggers 2016 - - - - - - - - - DSD disorder of sex development 1 1 Johan den Dunnen
00231509 Pat197 PubMed: Eggers 2016 - rF - - - - - - - DSD partial gonadal dysgenesis 1 1 Johan den Dunnen
00231510 Pat198 PubMed: Eggers 2016 - M - - - - - - - DSD partial gonadal dysgenesis 1 1 Johan den Dunnen
00231511 Pat199 PubMed: Eggers 2016 - M - - - - - - - DSD partial gonadal dysgenesis 1 1 Johan den Dunnen
00231512 Pat201 PubMed: Eggers 2016 - rF - - - - - - - DSD partial gonadal dysgenesis 1 1 Johan den Dunnen
00231535 Pat262 PubMed: Eggers 2016 - - - - - - - - - DSD Leydig cell hypoplasia 1 1 Johan den Dunnen
00231551 Pat112 PubMed: Eggers 2016 2-generation family, affected father/son, son M - - - - - - - DSD disorder of sex development 1 2 Johan den Dunnen
00231552 Pat125 PubMed: Eggers 2016 - - - - - - - - - DSD disorder of sex development 1 1 Johan den Dunnen
00231553 Pat137 PubMed: Eggers 2016 - - - - - - - - - DSD disorder of sex development 1 1 Johan den Dunnen
00231556 Pat223 PubMed: Eggers 2016 father M - - - - - - - DSD hypospadias 1 1 Johan den Dunnen
00246900 - - 46,XY DSD - - Brazil - - - - - SRXY3 urethral opening penoscrotal, gonadal location (L/R) in labioscrotal folds, dysgenetic testes bilaterally 1 1 Helena Fabbri-Scallet
00260853 DGAP186 PubMed: Lachke 2011 - rM - United States - - - - - ? see paper; ..., at birth severe hypospadias, absence of testes in bifid scrotal sac; later testes descended, hypospadias treated with testosterone injection combined with surgery; 2y-left leukocoria, bilateral, progressive cataracts 1 1 Johan den Dunnen
00334623 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 5 LOVD
00397492 patient PubMed: Giannakopoulos 2022 - F no Greece - - - - - BPES see paper; ..., amenorrhea, short stature, bilateral blepharophimosis, ptosis eyelids, cubitus valgus; breast/pubic hair Tanner III stage without any signs of further pubertal progression 1 1 Amalia Sertedaki
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