| Entry |
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| Name |
Estrogen resistance syndrome |
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| Description |
Estrogen resistance syndrome is a rare, genetic endocrine disease, characterized by estrogen-receptor (ESR) insensitivity to estrogens. A few patients who has mutations in ESR1 gene has been reported. An adult male who was tall and had incomplete epiphyseal closure, and a young woman with delayed puberty have been described.
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| Category |
Endocrine and metabolic disease
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| Brite |
Human diseases [BR:br08402]
Endocrine and metabolic diseases
Gonadal diseases
H02061 Estrogen resistance syndrome
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Certain disorders of puberty
5A90 Disorder of puberty due to oestrogen resistance
H02061 Estrogen resistance syndrome
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| Pathway |
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| Network |
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| Element |
| N00887 | Mutation-inactivated ESR1 to nuclear-initiated estrogen signaling pathway |
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| Gene |
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| Comment |
This syndrome is distinct from resistance to hormone therapy.
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| Other DBs |
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| Reference |
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| Authors |
Quaynor SD, Stradtman EW Jr, Kim HG, Shen Y, Chorich LP, Schreihofer DA, Layman LC |
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| Title |
Delayed puberty and estrogen resistance in a woman with estrogen receptor alpha variant. |
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| Journal |
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| Reference |
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| Authors |
Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS |
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| Title |
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. |
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| Journal |
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| Reference |
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| Authors |
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 |
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| Title |
Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation. |
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| Journal |
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| LinkDB |
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