title: Spontaneous feminization in a female patient with congenital adrenal lipoid hyperplasia due to a homozygous Q258X mutation in the steroidogenic acute regulatory protein gene.
authors.affiliation: Department of Pediatrics, Kanazawa Municipal Hospital, Ishikawa, Japan. nakarait@po.incl.ne.jp
authors.forename: T
authors.initials: T
authors.lastname: Nakarai
authors.forename: Y
authors.initials: Y
authors.lastname: Saikawa
authors.forename: Y
authors.initials: Y
authors.lastname: Niida
authors.forename: C
authors.initials: C
authors.lastname: Kanegane
authors.forename: K
authors.initials: K
authors.lastname: Honke
authors.forename: S
authors.initials: S
authors.lastname: Koizumi
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D005260:Female; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013256:Steroids / Q000096:biosynthesis; D000098682:Steroidogenic Acute Regulatory Protein
chemical_list: D008565:Membrane Proteins; D010750:Phosphoproteins; D013256:Steroids; D000098682:Steroidogenic Acute Regulatory Protein