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Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.

Arquivos brasileiros de endocrinologia e metabologia - 1 Dec 2010

Neres Marcos S, Auchus Richard J, Shackleton Cedric H L, Kater Claudio E

Abstract excerpt

OBJECTIVES: (1) Characterize serum (S) and urinary (U) steroid metabolites in complete CYP17 deficiency (cCYP17D); (2) analyze the relative 17α-hydroxylase (17OH) and 17,20-lyase (17,20L) activities in vivo; and (3) comparedata from the two most prevalent mutations in Brazil. SUBJECTS AND METHODS: 20 genotyped cCYP17D patients from a previously reported cohort were homozygous for W406R or R362C; 11 controls were...

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PMID: 21340176
DOI: 10.1590/s0004-27302010000900009

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