エントリ 名称 エストロゲン不応症候群
概要 Estrogen resistance syndrome is a rare, genetic endocrine disease, characterized by estrogen-receptor (ESR) insensitivity to estrogens. A few patients who have mutations in ESR1 gene have been reported. An adult male who was tall and had incomplete epiphyseal closure, and a young woman with delayed puberty have been described.
カテゴリ 内分泌代謝疾患
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ] BRITE hierarchy パスウェイ ネットワーク nt06323 KISS1-GnRH-LH/FSH-E2 signaling
病因遺伝子 コメント This syndrome is distinct from resistance to hormone therapy.
リンク 文献 著者 Quaynor SD, Stradtman EW Jr, Kim HG, Shen Y, Chorich LP, Schreihofer DA, Layman LC
タイトル Delayed puberty and estrogen resistance in a woman with estrogen receptor alpha variant.
雑誌 文献 著者 Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS
タイトル Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.
雑誌 文献 著者 Bernard V, Kherra S, Francou B, Fagart J, Viengchareun S, Guechot J, Ladjouze A, Guiochon-Mantel A, Korach KS, Binart N, Lombes M, Christin-Maitre S
タイトル Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.
雑誌 LinkDB All DBs
