ESPE Abstracts (2019) 92 P1-298

First Morning Pregnanetriol and 17-Hydroxyprogesterone Correlated Significantly Each Other with in 21-Hydroxylase Deficiency

Tomoyo Itonaga1,2, Masako Izawa3, Takashi Hamajima3, Yukihiro Hasegawa1


1Tokyo Metropolitan Children's Medical Center, Tokyo, Japan. 2Oita University Faculty of Medicine, Oita, Japan. 3Aichi Children's Health and Medical Center, Aichi, Japan


Background: Biochemically monitoring 21-hydroxylase deficiency (21OHD) treatment is challenging. Serum/blood 17-hydroxyprogesterone (17OHP) measurements, especially in the early morning before medication, are traditionally used for this purpose. Urinary pregnanetriol (PT), a urinary metabolite of 17OHP, may also be used. Based on auxological data, we previously reported that the first morning PT value in the range of 2.2–3.3 mg/gCr is optimal for monitoring 21OHD treatment. No report thus far has compared urinary PT and 17OHP values.

Objective: To explore the correlation between first morning urinary PT value before glucocorticoid administration (0h-PT) and the serum/blood 17OHP value at three time points, namely, before (0h-17OHP) and two and four hours after glucocorticoid administration (2h-17OHP, 4h-17OHP).

Design: This was a prospective study done at two children's hospitals.

Methods: In total, 24 patients with 21OHD aged 3-25 years were recruited. The urinary PT levels and 17OHP levels were measured for three days within a week. The 0h-PT (n=69) values were collected on all three days. Enzyme immunoassay (ELISA) of dried blood spots (DBS) was done for 2h-17OHP (n=22) and 4h-17OHP (n=22) on day 1 and for 0h-17OHP on days 2 and 3 (n=45). Serum 17OHP levels were also measured on day 1 by ELISA and LC-MS/MS (n=24).

Results: All 24 patients received both gluco- and mineralocorticoids. The 0h-PT value for the total samples was 0.12-56.1 mg/gCr (n=54). DBS 0h-, 2h-, and 4h-17OHP levels were 0.28- 100, 0.44-77.1, and 0.54-87.2 ng/ml, respectively. A significant, positive correlation was found between the 0h-PT and DBS 0h-17OHP values (r=0.961, P<0.01), but none was observed between the 0h-PT and DBS 2h- or 4h-17OHP values. When the 95% confidence intervals of the mean 0h-PT level obtained during a period of good disease control (2.2-3.3 mg/gCr) in our previous study were applied, the DBS and serum ELISA for 0h-17OHP yielded a value of 14.2-19.1 ng/ml and 29.5-37.2 ng/ml, respectively. The day-to-day variation in 0h-PT (n=51) was 24.7 +/- 22.3%. We confirmed a significant correlation between ELISA and LC-MS/MS in terms of 17OHP level.

Conclusions: First morning PT correlated significantly only with DBS 17OHP before morning medication. Since early morning serum/blood 17OHP measurements are impractical for patients and caregivers and the levels do not reflect a long period of disease control, first morning PT measurements may be more useful for biochemical monitoring of 21OHD.

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