Article
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
American journal of medical genetics. Part A - 1 Nov 2014
Pedace Lucia, Laino Luigi, Preziosi Nicoletta, Valentini Maria Stella, Scommegna Salvatore, Rapone Anna Maria, Guarino Nino, Boscherini Brunetto, De Bernardo Carmelilia, Marrocco Giacinto, Majore Silvia, Grammatico Paola
Abstract excerpt
Steroidogenic factor 1 (encoded by the NR5A1 gene) is a critical regulator of reproduction, controlling transcription of key genes involved in sexual dimorphism. To date, NR5A1 variants have been found in individuals with a 46,XY karyotype and gonadal dysgenesis, as well as with a wide spectrum of genital anomalies and, in some patients, with adrenal insufficiency. We describe evolution of gonadal function, from...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.