Primary Amenorrhea in an 18-year-old Japanese Female with Sensorineural Hearing Loss and Anosmia : a New Sydrome?

この論文にアクセスする

この論文をさがす

著者

    • YAMAGATA YOSHIAKI
    • Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine
    • MAEKAWA RYO
    • Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine
    • ASADA HIROMI
    • Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine
    • TAMURA ISAO
    • Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine
    • TANIGUCHI KEN
    • Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine
    • TAKETANI TOSHIAKI
    • Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine
    • MIWA ICHIRO
    • Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine
    • MATSUOKA AKI
    • Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine
    • TAMURA HIROSHI
    • Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine
    • SUGINO NORIHIRO
    • Department of Obstetrics and Gynecology, Yamaguchi University Graduate School of Medicine

抄録

This report documents a case with primary amenorrhea associated with sensorineural hearing loss and anosmia. The patient presented at 18 years of age with minimal sexual development and no prior menses. Her mother also presented late onset menarche, hearing loss and anosmia, and her father was also affected with hearing loss. A chromosome analysis of the patient showed 46, XX. Basal FSH and LH levels were in normal range, but the serum estradiol level was low. A serum estradiol elevation and follicular development were recognized after the injection of human menopausal gonadotropin. Genomic DNA sequencing of <i>FSHB</i>, <i>FSHR</i>, <i>KAL1</i>, <i>FGFR1</i>, <i>PROK2</i> and <i>PROKR2</i> did not show any mutation. Audiometry showed severe bilateral sensorineural hearing loss and smell testing confirmed a severely impaired olfactory function. These findings probably suggested a case of delayed puberty associated with sensorineural hearing loss and anosmia.<br>

収録刊行物

  • Endocrine journal  

    Endocrine journal 55(3), 545-547, 2008-06-01 

    The Japan Endocrine Society

参考文献:  3件

参考文献を見るにはログインが必要です。ユーザIDをお持ちでない方は新規登録してください。

各種コード

  • NII論文ID(NAID)
    10021266523
  • NII書誌ID(NCID)
    AA10901436
  • 本文言語コード
    ENG
  • 資料種別
    ART
  • ISSN
    09188959
  • データ提供元
    CJP書誌  J-STAGE 
ページトップへ