Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Eitemau Tebyg

• The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency
  gan: Köhler, Birgit, et al.
  Cyhoeddwyd: (2009)
• Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations
  gan: Tantawy, Sally, et al.
  Cyhoeddwyd: (2012)
• Steroidogenic factor-1 (SF-1, NR5A1) and human disease
  gan: Ferraz-de-Souza, Bruno, et al.
  Cyhoeddwyd: (2011)
• Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function
  gan: Lin, Lin, et al.
  Cyhoeddwyd: (2007)
• Steroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes
  gan: McElreavey, Kenneth, et al.
  Cyhoeddwyd: (2017)