Rare diseases · Sign or symptom
Infertility
HP:0000789
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 this36
Very common80–99%
11- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- 48,XXXY syndrome
- 48,XXYY syndrome
- 49,XXXXY syndrome
- Paternal uniparental disomy of chromosome X syndrome
- PLIN1-related familial partial lipodystrophy
- Prader-Willi syndrome
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- Schaaf-Yang syndrome
- SIM1-related Prader-Willi-like syndrome
Common30–79%
11- Combined pituitary hormone deficiencies, genetic forms
- Emanuel syndrome
- Familial hyperprolactinemia
- Functioning gonadotropic adenoma
- Non-acquired panhypopituitarism
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Ring chromosome 21 syndrome
- Rothmund-Thomson syndrome
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
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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.