Article
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.
Hormone research in paediatrics - 1 Jan 2012
Ciaccio Marta, Costanzo Mariana, Guercio Gabriela, De Dona Valeria, Marino Roxana, Ramirez Pablo C, Galeano Jessica, Warman Diana Monica, Berensztein Esperanza, Saraco Nora, Baquedano Maria Sonia, Chaler Eduardo, Maceiras Mercedes, Lazzatti Juan Manuel, Rivarola Marco A, Belgorosky Alicia
Abstract excerpt
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 have previously reported extreme within-family variability in affected 46,XY patients. Even though low ovarian reserve with preserved fertility has been reported in females harboring NR5A1 gene mutations, fertility has only been observed...
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