Rare diseases · Sign or symptom
Decreased serum estradiol
HP:0008214
What it means
A reduction below normal concentration of estradiol in the circulation.
Rare diseases that can present with this18
Very common80–99%
11- 46,XX gonadal dysgenesis
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- 46,XY partial gonadal dysgenesis
- Frasier syndrome
- Isolated follicle stimulating hormone deficiency
- Obesity due to congenital leptin deficiency
- Obesity due to leptin receptor gene deficiency
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- Progeria-short stature-pigmented nevi syndrome
- Woodhouse-Sakati syndrome
Common30–79%
5The 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
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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.