Article
NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development.
Hormone research in paediatrics - 1 Jan 2014
Bertelloni Silvano, Dati Eleonora, Baldinotti Fulvia, Toschi Benedetta, Marrocco Giacinto, Sessa Maria R, Michelucci Angela, Simi Paolo, Baroncelli Giampiero I
Abstract excerpt
BACKGROUND: Steroidogenic factor 1, encoded by the NR5A1 gene, is a key regulator of endocrine function within the hypothalamic-pituitary-steroidogenic axis. Both homozygous, compound heterozygous and heterozygous mutations in the NR5A1 gene may determine 46,XY disorders of sex development (DSD). PATIENTS AND METHODS: NR5A1 gene sequencing was performed in a cohort of 6 patients with 46,XY DSD without specific...
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