Rare diseases · Sign or symptom
Azoospermia
Absent sperm in semen
HP:0000027
What it means
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Rare diseases that can present with this34
Very common80–99%
13- 46,XY partial gonadal dysgenesis
- 48,XXXY syndrome
- 48,XXYY syndrome
- 48,XYYY syndrome
- 49,XXXXY syndrome
- 49,XYYYY syndrome
- Deafness-infertility syndrome
- Isochromosomy Yp syndrome
- Isochromosomy Yq syndrome
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Mayer-Rokitansky-Küster-Hauser syndrome type 2
- Normosmic congenital hypogonadotropic hypogonadism
- Ring chromosome Y syndrome
Common30–79%
9- 45,X/46,XY mixed gonadal dysgenesis
- 8p11.2deletion syndrome
- Hydrocephalus-obesity-hypogonadism syndrome
- Isolated follicle stimulating hormone deficiency
- Maternal uniparental disomy of chromosome X syndrome
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- Ring chromosome 22 syndrome
- Severe congenital hypochromic anemia with ringed sideroblasts
- Spinocerebellar ataxia type 32
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.