Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.

@article{Warman2011ThreeNS,
  title={Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.},
  author={Diana M{\'o}nica Warman and Mariana Costanzo and Roxana Marino and Esperanza B Berensztein and Jesica Galeano and Pablo Guerr{\'o}n - Quintana North Carolina State University Ram{\'i}rez and Nora I Saraco and Mar{\'i}a Sonia Baquedano and Marta Ciaccio and Gabriela Guercio and Eduardo Adrian Chaler and Mercedes Maceiras and Juan Manuel Lazzatti and Marcela M Bailez and Marco Aurelio Rivarola and Alicia Belgorosky},
  journal={Hormone research in paediatrics},
  year={2011},
  volume={75 1},
  pages={70-7}
}
BACKGROUND Three novel heterozygous SF-1 gene mutations affecting multiple members of two unrelated families with a history of 46,XY disorders of sex development (DSD) and 46,XX ovarian insufficiency are described. METHODS clinical and mutational analysis of the SF-1 gene in 9 subjects of two families. RESULTS family 1 had 2 affected 46,XY DSD subjects. One, born with severe perineal hypospadias, was raised as a male, and presented normal adolescence. The other, born with ambiguous… CONTINUE READING