Rare diseases · Sign or symptom
Primary gonadal insufficiency
HP:0008193
Rare diseases that can present with this13
Very common80–99%
10- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- 48,XYYY syndrome
- 49,XXXYY syndrome
- 49,XYYYY syndrome
- Bangstad syndrome
- Isochromosomy Yp syndrome
- Isochromosomy Yq syndrome
- Leydig cell hypoplasia
- Maternal uniparental disomy of chromosome X syndrome
- Microcephalic primordial dwarfism-insulin resistance 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
Primary gonadal 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.