Condition: 46,XY Sex Reversal 3


rs104894119 in NR5A1 gene and 46,XY Sex Reversal 3 PMID 17694559 2008 Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.

PMID 10369247 1999 A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans.

PMID 18947601 2006 Consensus statement on management of intersex disorders.

PMID 17200175 2007 Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

PMID 11932325 2002 Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

PMID 24405868 2014 The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.

PMID 28459839 2017 New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.

PMID 27490115 2017 NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

PMID 27378692 2016 A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.

PMID 25122490 2014 Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

PMID 23154282 2012 The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.

PMID 25383892 2015 Exome sequencing for the diagnosis of 46,XY disorders of sex development.

PMID 22907560 2012 Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.

PMID 27169744 2016 Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.

PMID 22028768 2011 Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.

PMID 28032338 2017 SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.