Overview
Primary amenorrhoea is a finding that may indicate an underlying health condition requiring clinical evaluation.
Associated Conditions
Conditions associated with this symptom based on HPO disease-phenotype annotations.
Androgen resistance syndrome
Hypogonadotropic hypogonadism
Occasional (5-29%)
Turner syndrome
Frequent (30-79%)
De Lange syndrome
Occasional (5-29%)
Testicular regression syndrome
Occasional (5-29%)
Congenital absence of vagina
Frequent (30-79%)
Prader-Willi syndrome
Frequent (30-79%)
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Frequent (30-79%)
Hypogonadism with anosmia
Occasional (5-29%)
Idiopathic hypogonadotropic hypogonadism
Always present (100%)
Deficiency of steroid 17-alpha-hydroxylase
Frequent (30-79%)
Deficiency of uridyl transferase
Frequent (30-79%)
Progressive cerebellar ataxia with hypogonadism
Occasional (5-29%)
Deficiency of UTP-hexose-1-phosphate uridylyltransferase
Frequent (30-79%)
Maternal virilization due to placental aromatase deficiency
Frasier syndrome
Very frequent (80-99%)
Vanishing white matter disease
Occasional (5-29%)
Congenital leptin deficiency
Very frequent (80-99%)
CCFDN - congenital cataracts, facial dysmorphism and neuropathy
Occasional (5-29%)
Pituitary stalk interruption syndrome
Occasional (5-29%)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Occasional (5-29%)
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome
Always present (100%)
Primary hypergonadotropic hypogonadism and partial alopecia syndrome
Very frequent (80-99%)
Deafness, enamel hypoplasia, nail defect syndrome
Frequent (30-79%)
Hypergonadotropic hypogonadism with cataract syndrome
Very frequent (80-99%)
Quick Facts
- SNOMED CT
- 156035004
- UMLS CUI
- C0232939
- Fully Specified Name
- Primary amenorrhea (finding)
- Associated Conditions
- 25
- Diagnostic Tests
- 0
This information is for educational purposes only. If you are experiencing symptoms, please consult a healthcare provider for proper evaluation and diagnosis.