Establishment of new diagnostic methods and therapeutic guidelines for congenital male hypogonadotropic hypogonadism.

2015 Fiscal Year Final Research Report

• Project/Area Number: 24591536
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: The University of Tokyo (2014-2015); National Research Institute for Child Health and Development (2012-2013)
• Principal Investigator: SATO NAOKO 東京大学, 医学部附属病院, 登録研究員 (10383069)
• Co-Investigator(Kenkyū-buntansha): SEO Misuzu 京都産業大学, 総合生命科学部, 教授 (60211223) ; KITANAKA Sachiko 東京大学, 医学部附属病院, 准教授 (30431638)
• Research Collaborator: TANAKA Toshiaki たなか成長クリニック
• Project Period (FY): 2012-04-01 – 2016-03-31
• Keywords: 妊孕性獲得 / 遺伝子解析 / ゴナドトロピン療法 / 低ゴナドトロピン性性腺機能低下症 / rFSH先行療法 / 治療ガイドライン

Outline of Final Research Achievements

Congenital Male Hypogonadotropic Hypogonadism (CMHH) is a causative disorder of infertility, 70% of the cause of which however is unknown yet. The therapeutic guidelines in consideration of prospective fertilities have not been established.To establish new diagnostic methods and therapeutic guidelines for CMHH, we analyzed mutational genes along with clinical data, applying next-generation sequencer to 41 CMHH patients. As a result, we identified ten mutations, and simultaneously found that one of the FGF-network-associated-gene’s variations may cause nerve developmental disabilities and that a preemptive rFSH therapy provided prior to a gonadotropin therapy (GT) improves spermatogenesis and symptom of prognosis after the therapy.
The outcome above suggests that NGS is an efficient method to diagnose CMHH with genetic heterogeneity and that the new protocol giving preemptive rFSH therapy prior to GT is effective to obtain favorable fertility.

Free Research Field

生殖内分泌