Spontaneous feminization in a female patient with congenital adrenal lipoid hyperplasia due to a homozygous Q258X mutation in the steroidogenic acute regulatory protein gene.
Nakarai
T
T
Department of Pediatrics, Kanazawa Municipal Hospital, Ishikawa, Japan. nakarait@po.incl.ne.jp
Saikawa
Y
Y
Niida
Y
Y
Kanegane
C
C
Honke
K
K
Koizumi
S
S
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
D008565:Membrane Proteins; D010750:Phosphoproteins; D013256:Steroids; D000098682:Steroidogenic Acute Regulatory Protein