Diagnosis of disorders of sex development (DSD) by steroid profiling using dried blood spots and electrospray ionization/tandem mass spectrometry (MS/MS)
| Project/Area Number |
15K21173
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
Endocrinology
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| Research Institution | Shimane University |
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Principal Investigator |
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| Research Collaborator |
Kobayashi hironori
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| Project Period (FY) |
2015-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 性分化疾患 / DSD / タンデム質量分析 / ステロイド |
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| Outline of Final Research Achievements |
We investigated the efficacy of steroid profiling using dried blood spots and electrospray ionization/tandem mass spectrometry (MS/MS). The difference of the 17α-Hydroxyprogesterone(17OHP) between 12 patients with congenital adrenal hyperplasia(CAH) and control subjects was remarkable. A patient with cytochrome p450 oxidoreductase deficiency(PORD) was distinguished from control subjects. Our results raise the possibility that our method was useful for the diagnosis of patients with disorders of sex development (DSD) .
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| Academic Significance and Societal Importance of the Research Achievements |
血液ろ紙血によるタンデムマスを用いた血中ステロイド分析法を確立した。少量の血液で血中ステロイド全体のプロファイルを評価できることは、新生児期にとって侵襲が少なく検査を行いやすくなる。また、ステロイドの尿中代謝産物を評価していた尿中ステロイドプロファイルと異なり、血中ステロイドを直接評価できることで、どの部位の酵素障害かを検討する事が容易になる。DSDの診断を簡単かつ迅速に行うことが可能となれば、治療や性別判定までの時間を短縮することができ、臨床現場におけるメリットは大きい。
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Report
(5 results)
Research Products
(24 results)
