Spontaneous feminization in a female patient with congenital adrenal lipoid hyperplasia due to a homozygous Q258X mutation in the steroidogenic acute regulatory protein gene

Pediatrics International

Volumn 41, Issue 6, 1999, Pages 682-684

  Nakarai, Takayuki ^a   Saikawa, Yutaka ^b   Niida, Yo ^b   Kanegane, Chiharu ^c   Honke, Kazuya ^c   Koizumi, Shoichi ^b  

^a Kanazawa Municipal Hospital   (Japan)

^b KANAZAWA UNIV SCHOOL OF MEDICINE   (Japan)

^c National lou Hospital   (Japan)

Author keywords

Congenital lipoid adrenal hyperplasia; Q258X mutation; Steroidogenic acute regulatory protein

Indexed keywords

REGULATOR PROTEIN;

ADRENAL HYPERPLASIA; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; FEMINIZATION; GENE MUTATION; HUMAN; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; STEROIDOGENESIS;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; FEMALE; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; PHOSPHOPROTEINS; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; STEROIDS;

EID: 0033404977     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200X.1999.01131.x     Document Type: Article

References (8)

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2. 2 Lin D, Sugawara T, Strauss III JF et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science 1995; 267: 1828-31.
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7. 7 Bose HS, Pescovitz OH, Miller WL. Spontaneous feminisation in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein. J. Clin. Endocrinol. Metab. 1997; 82: 1511-15.
8. 8 Nakae J, Tajima T, Sugawara T et al. Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. Hum. Mol. Genet. 1997; 6: 571-6.