Rare diseases · Sign or symptom
Decreased fertility
Abnormal fertility
HP:0000144
Rare diseases that can present with this33
Very common80–99%
18- 46,XX gonadal dysgenesis
- 46,XX ovotesticular difference of sex development
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- Atypical Werner syndrome
- Cerebellar ataxia-hypogonadism syndrome
- Hypergonadotropic hypogonadism-cataract syndrome
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Kallmann syndrome
- Kennedy disease
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- Prune belly syndrome
- Testicular regression syndrome
- Young syndrome
Common30–79%
8- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Down syndrome
- Noonan syndrome with multiple lentigines
- Ulnar-mammary syndrome
- Werner syndrome
- Xp22.3microdeletion syndrome
Sometimes5–29%
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
Decreased fertility
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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.