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

Marta Ciaccio,Mariana Costanzo,Gabriela Guercio,Valeria De Dona,Roxana Marino,Pablo Ramirez,Jessica Galeano,Diana Monica Warman,Esperanza Berensztein,Nora Saraco,María Sonia Baquedano,Eduardo Chaler,Mercedes Maceiras,Juan Manuel Lazzatti,Marco A. Rivarola,Alicia Belgorosky

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

2012

Marta Ciaccio
Mariana Costanzo
Gabriela Guercio
Valeria De Dona
Roxana Marino
Pablo Ramirez
Jessica Galeano
Diana Monica Warman
Esperanza Berensztein
Nora Saraco
María Sonia Baquedano
Eduardo Chaler
Mercedes Maceiras
Juan Manuel Lazzatti
Marco A. Rivarola
Alicia Belgorosky

In humans, steroidogenic factor 1 (NR5A1/SF-1) mutations have been reported to cause gonadal dysgenesis, with or without adrenal failure, in both 46,XY and 46,XX individuals. We hav

Keywords:

XX gonadal dysgenesis
Gonadal dysgenesis
Endocrinology
Internal medicine
Mutation
Disorders of sex development
Gene
Phenotype
Fertility
Steroidogenic factor 1
Biology
Genetics
heterozygous mutation

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