Rare diseases · Sign or symptom
Hypergonadotropic hypogonadism
HP:0000815
What it means
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Rare diseases that can present with this36
Always100%
3Very common80–99%
17- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- 46,XY partial gonadal dysgenesis
- 48,XXYY syndrome
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
- Aromatase deficiency
- Deafness-hypogonadism syndrome
- Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Frasier syndrome
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
- Leydig cell hypoplasia
- Obesity due to congenital leptin deficiency
- Obesity due to leptin receptor gene deficiency
- Progeria-short stature-pigmented nevi syndrome
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- Richards-Rundle syndrome
- X-linked intellectual disability, Cilliers type
- X-linked intellectual disability, Van Esch type
Common30–79%
4Sometimes5–29%
9- 1q41q42microdeletion syndrome
- Ataxia-telangiectasia-like disorder
- Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- Galactokinase deficiency
- Mitochondrial neurogastrointestinal encephalomyopathy
- Pseudohypoparathyroidism type 1A
- Pseudohypoparathyroidism type 1C
- RIN2 syndrome
and 1 more in this range
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: Hypergonadotrophic hypogonadism · Primary hypogonadism
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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.