| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
We investigated comprehensive 49 genes analyses for fifty-one patients with precocious and delayed puberty using Ion Torrent next generation sequencing. In ten patients with idiopathic precocious puberty, we could not find any mutations in these genes. Abnormal delay of secondary sexual characteristics or bilateral cryptorchidism and micropenis without olfactory blub was noted in the forty-one patients with congenital hypogonadotropic hypogonadism, including patients with Kallmann syndrome and CHARGE syndrome. We discovered KAL1, FGFR1, CHD7 and TACR3 mutations during our study. As we could not get the sample of patients with mild precocious and delayed puberty, we could not lead a useful projection of onset of puberty during an observation of short stature children.
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