SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Disease: Ambiguous Genitalia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 GeneticVariation disease BEFREE We conclude that FISH analysis with X- and Y-specific probes and molecular analysis of the SRY gene are highly recommended and allow accurate diagnosis for optimal management of cases with ambiguous genitalia. 23689268 2013
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 Biomarker disease BEFREE Only 10% of the patients are SRY-negative and usually they have ambiguous genitalia, as the aforementioned patient. 21340153 2010
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 Biomarker disease BEFREE We report on a case of SRY(-) 46,XX monozygotic twins with genital ambiguity. 18056774 2008
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 GeneticVariation disease BEFREE A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia. 16594994 2006
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 Biomarker disease BEFREE We conclude that fluorescence in situ hybridization (FISH) analysis with SRY probes is highly recommended and allows accurate diagnosis and optimal management in cases of 46,XX hermaphroditism and ambiguous genitalia. 12503111 2003
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 GeneticVariation disease BEFREE We report on a patient with 46, XY chromosomes, presence of the "sex-determining region of Y chromosome" (SRY) gene, scrotal gonads, fallopain tubes, uterus, vagina, and ambiguous genitalia with a penisoid, perineal hypospadia and sinus urogenitalis. 12422582 2002
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 GeneticVariation disease BEFREE In the present study, we searched for SRY sequence in genomic DNA isolated from peripheral leukocytes in eleven 46,XX true hermaphrodites and four 46,XX males (only one with ambiguous genitalia). 11257728 2001
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 Biomarker disease BEFREE Two SRY-negative XX male brothers without genital ambiguity. 9341880 1997
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 Biomarker disease BEFREE We report a Mexican 46,XX male patient without genital ambiguities in whom DNA analysis showed the presence of SRY and the absence of ZFY. 7726236 1995
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 Biomarker disease BEFREE These findings, together with ambiguous genitalia in the girls, indicate that the marker chromosomes include the testis-determining factor gene. 1424235 1992
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 GeneticVariation disease BEFREE On the assumption that the function of the testis is to produce hormones and spermatozoa, the hypothesis of a single Y-chromosomal testis-determining gene with a dominant effect is shown to run counter to the following observed facts: a lowering in testosterone levels and an increase in the incidence of undescended testes, in addition to sterility, in males with multiple X chromosomes; abnormalities of the testes in autosomal trisomies; phenotypic abnormalities of XX males apparently increasing with decreasing amounts of Y-chromosomal material; the occurrence of patients with gonadal dysgenesis and XY males with ambiguous genitalia in the same sibship; the occurrence of identical SRY mutations in patients with gonadal dysgenesis and fertile males in the same pedigree; and the development of XY female and hermaphrodite mice having the same genetic constitution. 1634224 1992
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 Biomarker disease HPO