Disease #05340 (SRXY (46,XY sex reversal (SRXY)))

Official abbreviation SRXY
Name 46,XY sex reversal (SRXY)
OMIM ID -
Inheritance -
Individuals reported having this disease 32
Phenotype entries for this disease 32
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2017-11-05 11:48:12 +01:00 (CET)
Date last edited N/A


Individuals

32 entries on 1 page. Showing entries 1 - 32.
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00132768 - - - M no China Hong Kong - - - - SRXY sex reversal, NR5A1-related; ambiguous external genitalia NR5A1 NR5A1 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 NR5A1 NR5A1 1 7 Stefanie Eggers
00217302 - - - rF - - - - - - - SRXY - PBX1 PBX1 1 1 Kenneth Mcelreavey
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) NR5A1 NR5A1 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 NR5A1 NR5A1 1 4 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 NR5A1 NR5A1 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 NR5A1 NR5A1 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 NR5A1 NR5A1 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 NR5A1 NR5A1 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 NR5A1 NR5A1 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 NR5A1 NR5A1 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 NR5A1 NR5A1 1 1 Johan den Dunnen
00227874 patient PubMed: Coutant 2007 - - - - - - - - - SRXY see paper; … NR5A1 NR5A1 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 NR5A1 NR5A1 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 NR5A1 NR5A1 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 NR5A1 NR5A1 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 NR5A1 NR5A1 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 NR5A1 NR5A1 1 1 Johan den Dunnen
00227887 patient PubMed: Tajima 2009 - - - - - - - - - SRXY see paper; … NR5A1 NR5A1 1 1 Johan den Dunnen
00227898 patient PubMed: Warman 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00227899 patient PubMed: Warman 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00227906 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00227908 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00227909 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; … NR5A1 NR5A1 1 1 Johan den Dunnen
00227911 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00227914 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00227915 patient PubMed: Philibert 2011 - - - - - - - - - SRXY see paper; …, 46,XY disorder of sex development NR5A1 NR5A1 1 1 Johan den Dunnen
00227916 patient PubMed: Sinha 2011 - - - - - - - - - SRXY see paper; … NR5A1 NR5A1 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 NR5A1 NR5A1 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 NR5A1 NR5A1 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 NR5A1 NR5A1 1 1 Johan den Dunnen
00437163 D724 PubMed: Kekou 2023 - - - Greece - - - - - SRXY ambiguous genitalia, 46,XY sex reversal, slightly elevated CK DMD DHX37, DMD 2 1 Johan den Dunnen
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