Rare diseases · Sign or symptom
Delayed puberty
Delayed pubertal development
HP:0000823
What it means
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy.
Rare diseases that can present with this119
Very common80–99%
30- 46,XX gonadal dysgenesis
- 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
- Ataxia-telangiectasia
- Atypical Werner syndrome
- Biemond syndrome type 2
- CHARGE syndrome
- Cystinosis
- Deafness-hypogonadism syndrome
- Gaucher disease type 1
- Gemignani syndrome
- H syndrome
- Hypergonadotropic hypogonadism-cataract syndrome
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Insulin-resistance syndrome type A
- Isolated follicle stimulating hormone deficiency
- Kallmann syndrome
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- Micro syndrome
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Neurofibromatosis type 1
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- Progeria-short stature-pigmented nevi syndrome
- Short stature-craniofacial anomalies-genital hypoplasia syndrome
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- Woodhouse-Sakati syndrome
Common30–79%
37- 46,XY partial gonadal dysgenesis
- 4H leukodystrophy
- ANE syndrome
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
- Autosomal recessive spastic paraplegia type 64
- Chronic visceral acid sphingomyelinase deficiency
- Classic galactosemia
- Cohen syndrome
- Complete androgen insensitivity syndrome
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- Fabry disease
- Gaucher disease
- Gaucher disease type 3
- Glycogen storage disease due to liver glycogen phosphorylase deficiency
- Hernández-Aguirre Negrete syndrome
- Kallmann syndrome-heart disease syndrome
- Laron syndrome
- Laron syndrome with immunodeficiency
- Mitochondrial myopathy and sideroblastic anemia
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- Non-acquired isolated growth hormone deficiency
- Normosmic congenital hypogonadotropic hypogonadism
- Paternal uniparental disomy of chromosome 1 syndrome
- Pituitary stalk interruption syndrome
- Prader-Willi syndrome
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- Short stature due to primary acid-labile subunit deficiency
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- Tremor-ataxia-central hypomyelination syndrome
- Ulnar-mammary syndrome
- Wolfram-like syndrome
- X-linked adrenal hypoplasia congenita
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: Delayed pubertal growth · Pubertal delay
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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.