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 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.
Category
Endocrine and metabolic disease
Brite
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-based classification of diseases [BR:br08402]
 Endocrine system
  nt06323  KISS1-GnRH-LH/FSH-E2 signaling
   H02061  Estrogen resistance syndrome
Pathway
hsa01522  Endocrine resistance
hsa04917  Prolactin signaling pathway
hsa04915  Estrogen signaling pathway
Network
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
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
PMID:23841731
  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
PMID:27754803
  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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