Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.
Hong Kong Med J
; 16(1): 59-62, 2010 Feb.
Article
en En
| MEDLINE
| ID: mdl-20124576
Cytochrome P450 oxidoreductase deficiency is a recently established autosomal recessive disease characterised by ambiguous genitalia, impaired steroidogenesis, and skeletal malformations, referred to as Antley-Bixler syndrome. Clinical manifestations in affected patients are highly variable. We report on a girl with P450 oxidoreductase deficiency who presented with virilisation at birth. There was transient maternal virilisation during pregnancy as well. She was initially diagnosed with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency and/or aromatase deficiency. At 1 year of age, skeletal abnormalities suggestive of Antley-Bixler syndrome were detected. Molecular analysis of the fibroblast growth factor receptor 2 (FGFR2) gene was normal but POR gene analysis showed that she was homozygous for an R457H missense mutation. The diagnosis, P450 oxidoreductase deficiency, was confirmed. Results of her endocrine studies and urinary steroid profiling are also presented.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Esteroides
/
Virilismo
/
Sistema Enzimático del Citocromo P-450
/
Fenotipo del Síndrome de Antley-Bixler
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Hong Kong Med J
Asunto de la revista:
MEDICINA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Hong Kong
Pais de publicación:
China