Table 2

Investigations in seven Antley-Bixler patients with abnormal steroid profiles. Cortisol and 17-hydroxyprogesterone values are in nmol/l

Patient Steroid biochemistry Family members
MASerum cortisol - 28 (83–800)Not investigated
JHRaised pregnanetriol - 750 (50–480)Father has similar urinary steroid profile
Low excretion of urinary cortisol metabolites.
SP17-hydroxyprogesterone - 42.8 (<12)Father has similar urinary steroid profile
Aldosterone - 4180 (<1500)
Renin - 17 (<6)
Low synacthen response.
BM17-hydroxyprogesterone - 163(<12)Paternal aunt has CYP21 deficiency.
Father heterozygote for minor deletion CYP21
BWPregnanetriol - 60 (<50)Not investigated
α-cortol - 120 (<20)
DK17-hydroxyprogesterone - 13 (<12)Not investigated
FSH -18U/l (<3)
LH - 9.8U/l (<6)
MJ17-hydroxyprogesterone - 19.2 (<12)Not investigated
Rasied ACTH - 410