Table 1.

Reported cases of CYP17A1 mutations causing isolated 17,20 lyase deficiency [27,28,29,30]. The mutation E305G which was initially reported by Sherbet et al. [28] to cause isolated 17,20 lyase deficiency, was later reported by Tiosano et al. [30] to also result in combined 17α-hydroxylase/17,20 lyase deficiency, similar to other common mutations in CYP17A1 [30].

17OH Steroids Basal	17OH Steroids Stimulated	Cortisol Basal	Cortisol Stimulated	Activities (% of WT)		Ref
				17OHase	17,20 lyase
Normal	Hyperresponsive	Normal	Areactive	65	5	Geller 1997 [27]
Elevated	Hyperresponsive	Normal	Areactive	65	5	Geller 1997 [27]
Slightly elevated	Not reactive	Low normal	Areactive			van den Akker 2002 [29]
Normal	Normal	Low normal	Areactive			van den Akker 2002 [29]
Normal/Elevated	Reactive	Low normal	Hyporeactive	60	0	van den Akker 2002 [29]
Normal/Elevated	Reactive	Low normal	Hyporeactive	60	0	van den Akker 2002 [29]
Normal/Elevated	Reactive	Low	Hyporeactive	100	0	Sherbet 2003 [28]
Normal/Elevated	Normal	Low normal	Hyporeactive			Tiosano 2008 [30]
Normal/Elevated	Normal	Low normal	Hyporeactive			Tiosano 2008 [30]
Normal/Elevated	Normal	Low normal	Hyporeactive			Tiosano 2008 [30]
Normal/Elevated	Normal	Low normal	Hyporeactive			Tiosano 2008 [30]
Normal/Elevated	Normal	Low normal	Hyporeactive			Tiosano 2008 [30]
Normal/Elevated	Normal	Low normal	Hyporeactive			Tiosano 2008 [30]
Normal/low	Hyporeactive	Low normal	Areactive	43	0/0	This report