Rare diseases · Sign or symptom
Premature ovarian insufficiency
Early menopause
HP:0008209
What it means
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
The causes of primary ovarian insufficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years).
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this30
Very common80–99%
10- Atypical Werner syndrome
- Diethylstilbestrol syndrome
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome
- Progeria-short stature-pigmented nevi syndrome
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- Woodhouse-Sakati syndrome
- X small rings syndrome
Common30–79%
7Sometimes5–29%
10- Addison disease
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- Galactokinase deficiency
- Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
- Maternal uniparental disomy of chromosome 2 syndrome
- RIN2 syndrome
- Rothmund-Thomson syndrome type 1
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
and 2 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Climacterium praecox · Hypergonadotropic amenorrhea · Menopause praecox · Premature menopause · Premature ovarian failure · Primary ovarian insufficiency
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.