KEGG   DISEASE: H00627Help
Entry
H00627                      Disease                                

Name
Premature ovarian failure
Description
Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins). The causes of POF can be categorized into genetic and environmental mechanisms. X chromosome defects such as Turner syndrome or trisomy X as well as many genes including BMP15, FMR1, LHR, and FSHR are associated with POF development. For the environmental causes, medical intervention including surgeries and chemotherapies may lead to POF. Autoimmune ovarian failure consists another large category of POF.
Category
Reproductive system disease
BRITE hierarchy
Pathway
Calcium signaling pathway
Neuroactive ligand-receptor interaction
Regulation of actin cytoskeleton
Gene
BMP15 [HSA:9210] [KO:K05498]
FMR1 [HSA:2332] [KO:K15516]
FMR2 [HSA:2334] [KO:K15194]
POF1B [HSA:79983]
FOXL2 [HSA:668] [KO:K09405]
LHR [HSA:3973] [KO:K04248]
FSHR [HSA:2492] [KO:K04247]
INHA [HSA:3623] [KO:K05500]
SF1 [HSA:2516] [KO:K08560]
DIAPH2 [HSA:1730] [KO:K05741]
FIGLA [HSA:344018] [KO:K09066]
NOBOX [HSA:135935]
Env factor
Autoimmune diseases
Radiation
Chemotherapy (alkylating agents)
Surgery
Mumps infection [VGNM:NC_002200]
Galactosemia
Comment
For galactosemia, see H00070.
Other DBs
Reference
PMID:16722528 (description, gene)
  Authors
Beck-Peccoz P, Persani L
  Title
Premature ovarian failure.
  Journal
Orphanet J Rare Dis 1:9 (2006)
Reference
PMID:21188402 (description, gene)
  Authors
Cordts EB, Christofolini DM, Dos Santos AA, Bianco B, Barbosa CP
  Title
Genetic aspects of premature ovarian failure: a literature review.
  Journal
Arch Gynecol Obstet 283:635-43 (2011)
Reference
PMID:8591112 (env_factor)
  Authors
Kim JG, Moon SY, Chang YS, Lee JY
  Title
Autoimmune premature ovarian failure.
  Journal
J Obstet Gynaecol (Tokyo 1995) 21:59-66 (1995)
Reference
PMID:8243411 (env_factor)
  Authors
Vermeulen A
  Title
Environment, human reproduction, menopause, and andropause.
  Journal
Environ Health Perspect 101 Suppl 2:91-100 (1993)
Reference
PMID:11223362 (env_factor)
  Authors
Santoro N
  Title
Research on the mechanisms of premature ovarian failure.
  Journal
J Soc Gynecol Investig 8:S10-2 (2001)
Reference
PMID:19465673 (description, gene)
  Authors
Vujovic S
  Title
Aetiology of premature ovarian failure.
  Journal
Menopause Int 15:72-5 (2009)
Reference
PMID:9497258
  Authors
Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D
  Title
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in  a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.
  Journal
Am J Hum Genet 62:533-41 (1998)
Reference
  Authors
Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A
  Title
Transcription factor FIGLA is mutated in patients with premature ovarian failure.
  Journal
Am J Hum Genet 82:1342-8 (2008)
Reference
  Authors
Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A
  Title
NOBOX homeobox mutation causes premature ovarian failure.
  Journal
Am J Hum Genet 81:576-81 (2007)

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