Premature ovarian failure

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.

Reproductive system disease

BMP15 [HSA:9210] [KO:K05498]
FMR1 [HSA:2332] [KO:K15516]
FMR2 [HSA:953] [KO:K01510]
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]

Autoimmune diseases
Radiation
Chemotherapy (alkylating agents)
Surgery
Mumps infection [VGNM:NC_002200]
Galactosemia

For galactosemia, see H00070.

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Transcription factor FIGLA is mutated in patients with premature ovarian failure.

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NOBOX homeobox mutation causes premature ovarian failure.

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