Rare diseases · Sign or symptom
Absence of secondary sex characteristics
HP:0008187
What it means
No secondary sexual characteristics are present at puberty.
Rare diseases that can present with this17
Very common80–99%
13- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- Estrogen resistance syndrome
- Hypergonadotropic hypogonadism-cataract syndrome
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Leydig cell hypoplasia
- Normosmic congenital hypogonadotropic hypogonadism
- Obesity due to congenital leptin deficiency
- Obesity due to leptin receptor gene deficiency
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- X-linked intellectual disability, Cilliers type
- X-linked intellectual disability, Van Esch type
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
Also called: No secondary sexual characteristics at puberty
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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.