ea0007p217 | Steroids | BES2004
Arlt W
, Walker E
, Draper N
, Ivison H
, Ride J
, Hammer F
, Chalder S
, Borucka-Mankiewicz M
, Hauffa B
, Malunowicz E
, Stewart P
, Shackleton C
A form of congenital adrenal hyperplasia (CAH) is associated with accumulation of steroid metabolites indicating impaired 17alpha-hydroxylase and 21-hydroxylase activities. However, sequencing of CYP17 and CYP21 genes does not reveal mutations, suggesting the involvement of a co-factor interacting with both enzymes. Affected females present with ambiguous genitalia at delivery, but circulating androgens are low and virilisation does not progress, a paradox yet to be explained....