Screening for 21-hydroxylase–deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study Ricardo Azziz, M.D., Luis A Hincapie, M.D., Eric S Knochenhauer, M.D., Didier Dewailly, M.D., Liesl Fox, Ph.D., Larry R Boots, Ph.D. Fertility and Sterility Volume 72, Issue 5, Pages 915-925 (November 1999) DOI: 10.1016/S0015-0282(99)00383-0
Figure 1 The variability of the basal 17-hydroxyprogesterone (17-HP) level with the menstrual cycle was determined in eight healthy control women. Blood was sampled every other day throughout the cycle, with an average of 13.4 samples per subject. Considering the first day of menstrual flow as day 1 of the menstrual cycle, 56 samples were obtained in the follicular phase of the menstrual cycle (i.e., cycle days 1–14) and 51 in the luteal phase (i.e., cycle days 16–30). Of the samples obtained on or before cycle day 14, none demonstrated a 17-HP level of ≥2 ng/mL. Of those obtained on or after cycle day 16, 24, 9, and 2 samples had 17-HP levels of >2, >3, and >4 ng/mL, respectively, (dashed horizontal lines). Azziz. Screening for NCAH. Fertil Steril 1999. Fertility and Sterility 1999 72, 915-925DOI: (10.1016/S0015-0282(99)00383-0)
Figure 2 The basal 17-hydroxyprogesterone (17-HP) level was determined in 20 patients with 21-hydroxylase–deficient nonclassic adrenal hyperplasia, in the morning (7:00–10:00 a.m.) and in the afternoon (4:00–5:30 p.m.). All 20 samples obtained in the morning had 17-HP levels of >2 ng/mL, and 18 of 20 had levels of >3 or >4 ng/mL. Of samples obtained in the afternoon, 19, 18, and 17 had levels of >2, >3, and >4 ng/mL, espectively (dashed horizontal lines). Azziz. Screening for NCAH. Fertil Steril 1999. Fertility and Sterility 1999 72, 915-925DOI: (10.1016/S0015-0282(99)00383-0)
Figure 3 The algorithm for and results of using a basal 17-hydroxyprogesterone (17-HP) level to screen hyperandrogenic women for 21-hydroxylase–deficient nonclassic adrenal hyperplasia (NCAH) is shown. Of the 266 hyperandrogenic patients screened, 225 (84.6%) had an initial screening 17-HP level of <2 ng/mL and were not considered to have NCAH. Twenty-five patients (9.6%) had an initial 17-HP level of >2 ng/mL, but their repeated 17-HP level was lower. Sixteen patients (6%) underwent an acute ACTH stimulation test. Of these, 6 had both initial and repeated 17-HP levels of >2 ng/mL. The initial 17-HP level was >2 ng/mL in 10 patients, but 2 had undergone hysterectomy, 3 had complete amenorrhea, and 5 had their initial sample obtained in the follicular phase of the menstrual cycle. Overall, NCAH was diagnosed in a total of 3 patients (1.1%) using the study algorithm. Azziz. Screening for NCAH. Fertil Steril 1999. Fertility and Sterility 1999 72, 915-925DOI: (10.1016/S0015-0282(99)00383-0)