KEGG   DISEASE: Estrogen resistance syndrome
Entry
H02061                      Disease                                

Name
Estrogen resistance syndrome
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.
Category
Endocrine and metabolic disease
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
Pathway
hsa01522 Endocrine resistance   
hsa04917 Prolactin signaling pathway   
hsa04915 Estrogen signaling pathway   
Network
  Element
N00887  Mutation-inactivated ESR1 to nuclear-initiated estrogen signaling pathway
Gene
ESR1 [HSA:2099] [KO:K08550]
Comment
This syndrome is distinct from resistance to hormone therapy.
Other DBs
ICD-11: 5A90
ICD-10: E30.9
OMIM: 615363
Reference
  Authors
Quaynor SD, Stradtman EW Jr, Kim HG, Shen Y, Chorich LP, Schreihofer DA, Layman LC
  Title
Delayed puberty and estrogen resistance in a woman with estrogen receptor alpha variant.
  Journal
N Engl J Med 369:164-71 (2013)
DOI:10.1056/NEJMoa1303611
Reference
PMID:8090165
  Authors
Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS
  Title
Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.
  Journal
N Engl J Med 331:1056-61 (1994)
DOI:10.1056/NEJM199410203311604
Reference
  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
  Title
Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.
  Journal
J Clin Endocrinol Metab 102:93-99 (2017)
DOI:10.1210/jc.2016-2749

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