Estrogen insensitivity syndrome
ORPHA: 785
Overview
genetic variation in which the body does not respond to estrogen
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Estrogen insensitivity syndrome, sourced from HPO and Orphanet clinical annotations.
Hypoplasia of the uterusTall staturePrimary amenorrheaIncreased circulating gonadotropin levelOsteopeniaOsteoporosisOvergrowthDelayed epiphyseal ossificationAbnormal circulating hormone concentrationBreast hypoplasiaMarked delay in bone ageAbsence of secondary sex characteristicsAbsence of pubertal developmentEnlarged polycystic ovariesHyperinsulinemiaAcanthosis nigricansAcneCoronary artery atherosclerosisGlucose intoleranceEpisodic abdominal painElevated tissue non-specific alkaline phosphatase
Classification & Codes
Orphanet Code
ORPHA:785Estrogen insensitivity syndrome
| Orphanet | ORPHA:785 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO