Rare diseases · Sign or symptom
Hypogonadism
Decreased activity of gonads
HP:0000135
What it means
A decreased functionality of the gonad.
Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones.
Rare diseases that can present with this86
Very common80–99%
30- 2p21microdeletion syndrome
- 48,XXXY syndrome
- 49,XXXXY syndrome
- 8p11.2deletion syndrome
- Ahmad syndrome
- Atypical Werner syndrome
- Biemond syndrome type 2
- Borjeson-Forssman-Lehmann syndrome
- Cerebellar ataxia-hypogonadism syndrome
- Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
- Deafness-enamel hypoplasia-nail defects syndrome
- Difference of sex development-intellectual disability syndrome
- Frontonasal dysplasia-alopecia-genital anomalies syndrome
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
- IMAGe syndrome
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Johnson neuroectodermal syndrome
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- Marinesco-Sjögren syndrome
- Microcephaly-microcornea syndrome, Seemanova type
- POEMS syndrome
- Prolactinoma
- Ring chromosome 7 syndrome
- SIM1-related Prader-Willi-like syndrome
- Urban-Rogers-Meyer syndrome
- Werner syndrome
- Woodhouse-Sakati syndrome
- Xeroderma pigmentosum
- Xq27.3q28duplication syndrome
Common30–79%
28- 8q22.1microdeletion syndrome
- Autoimmune polyendocrinopathy type 2
- Autosomal recessive multiple pterygium syndrome
- Bardet-Biedl syndrome
- Cataract-deafness-hypogonadism syndrome
- Cleft lip/palate-ectodermal dysplasia syndrome
- COFS syndrome
- Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
- Conductive deafness-malformed external ear syndrome
- Craniopharyngioma
- Cystinosis
- Emanuel syndrome
- Growth delay due to insulin-like growth factor type 1 deficiency
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- HJV or HAMP-related hemochromatosis
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Neu-Laxova syndrome
- Non-functioning pituitary adenoma
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- Pituitary dermoid and epidermoid cysts
- Prader-Willi syndrome
- Say-Barber-Miller syndrome
- Schaaf-Yang syndrome
- Severe congenital hypochromic anemia with ringed sideroblasts
- Spastic paraparesis-deafness syndrome
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- TSH-secreting pituitary adenoma
- X-linked intellectual disability, Seemanova type
Sometimes5–29%
22- 1p36deletion syndrome
- 2p15p16.1microdeletion syndrome
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
- Acrodysostosis
- Autoimmune polyendocrinopathy type 1
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Björnstad syndrome
- Camurati-Engelmann disease
and 14 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, and Orphanet separately records 1 disease where this sign is specifically absent. 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.