Combined action of environmental and genetical factors on mail genital abnormalities

2015 Fiscal Year Final Research Report

• Project/Area Number: 25860905
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Embryonic/Neonatal medicine
• Research Institution: Hamamatsu University School of Medicine
• Principal Investigator: Ohishi Akira 浜松医科大学, 医学部, 助教 (80402337)
• Co-Investigator(Renkei-kenkyūsha): FUJISAWA Yasuko 浜松医科大学, 医学部, 講師 (40402284) ; OGATA Tsutomu 浜松医科大学, 医学部, 教授 (40169173)
• Research Collaborator: FUKAMI Maki 国立成育医療研究センター ; SONE Hideko 独立行政法人国立環境研究所 ; YOSHINAGA Jun 東京大学, 新領域創成科学研究科
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 性分化 / 環境ホルモン / ステロイド / エストロゲン / 感受性遺伝子

Outline of Final Research Achievements

We gained the two new insights by this grant. First, we performed steroid profiling of umbilical cord blood from normal now borns by LC-MS/MS-based method. Given that there are still some unclear points of androgen generation during fetal period, those results are quite important for research on gonadal sex differentiation. Second, we analyzed the frequency of a 2244 base pair deletion within intron 6 of the ESR1 gene that is the significant gene modification involving increased sensitivity to estrogenic endocrine disruptors. We identified that this deletion has recessive effect on male genital abnormalities. Furthermore, the number of subjects involving with this deletion was higher in normal adult male group than in normal boy group, indicating that the sensitive subjects to estrogenic endocrine disruptors tended to to be born with normal genitals during past decades when the level of endocrine disruptors was low.

Free Research Field

新生児学　先天奇形症候群