Rare diseases · Sign or symptom
Primary amenorrhea
HP:0000786
Rare diseases that can present with this47
Very common80–99%
20- 46,XX gonadal dysgenesis
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- 46,XY partial gonadal dysgenesis
- Aromatase deficiency
- Complete androgen insensitivity syndrome
- Estrogen resistance syndrome
- Frasier syndrome
- Hypergonadotropic hypogonadism-cataract syndrome
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Isolated follicle stimulating hormone deficiency
- Leydig cell hypoplasia
- Mayer-Rokitansky-Küster-Hauser syndrome
- Müllerian aplasia and hyperandrogenism
- Normosmic congenital hypogonadotropic hypogonadism
- Obesity due to congenital leptin deficiency
- Obesity due to leptin receptor gene deficiency
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- X small rings syndrome
Common30–79%
18- Classic galactosemia
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- Deafness-enamel hypoplasia-nail defects syndrome
- Microcephalic primordial dwarfism, Dauber type
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
- Monosomy X syndrome
- Mosaic monosomy X syndrome
- Perrault 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
- Schaaf-Yang syndrome
- SIM1-related Prader-Willi-like syndrome
- Turner syndrome
- Turner syndrome due to structural X chromosome anomalies
- Vaginal atresia
Sometimes5–29%
6The 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 amenorrhea
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.