Comparison of pregnanetriol with blood 17-hydroxyprogesterone in 21-hydroxylase deficiency patients as the optimal control index

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K18009
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 54040:Metabolism and endocrinology-related
• Research Institution: Oita University
• Principal Investigator: Itonaga Tomoyo 大分大学, 医学部, 助教 (40772752)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 21水酸化酵素欠損症 / 先天性副腎皮質過形成 / 副腎 / 17OHP / プレグナントリオール / 小児内分泌学

Outline of Final Research Achievements

21-hydroxylase deficiency (21-OHD) is one of congenital endocrine disorder. Much remains to be clarified about best monitoring in treatment of 21-OHD. Serum 17OHP, a substrate of 21-OH, and pregnanetriol (PT), its urinary metabolite, are used as biochemical monitoring. In the present study, we explored the correlation between the first morning urinary PT value and the serum/blood 17OHP value. In conclusion, the first morning PT correlated more significantly with 17OHP before the morning medication. It indicated that measuring the first morning PT value may be more practical and useful for monitoring 21-OHD biochemically.

Free Research Field

小児科、小児内分泌学

Academic Significance and Societal Importance of the Research Achievements

21水酸化酵素欠損症の治療におけるモニタリング指標を検証することができた。この成果は、21水酸化酵素欠損症の治療の最適化につながる。今回、早朝尿のプレグナントリオール測定が有用であることを示せたことで、より低侵襲で頻回にモニタリングが行える可能性がでてきた。治療最適化により、21水酸化酵素欠損症の患者のQOL向上が期待でき、「すべての人に健康と福祉を」というSDGsの目標達成にもつながる。