Aromatase deficiency
MeSH: C537436ORPHA: 91
Overview
medical condition
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 Aromatase deficiency, sourced from HPO and Orphanet clinical annotations.
OsteopeniaOsteoporosisGrowth delayObesityBone painDelayed epiphyseal ossificationDelayed skeletal maturationGenu valgumHyperlipidemiaMale infertilityEunuchoid habitusFemale infertilityEnlarged polycystic ovariesFemale pseudohermaphroditismInsulin resistanceAcanthosis nigricansHepatic steatosisMacroorchidism, postpubertalGeneralized hirsutismType II diabetes mellitusCryptorchidismAmbiguous genitalia, femaleTall staturePrimary amenorrheaHypergonadotropic hypogonadism
Classification & Codes
MeSH Code
C537436Orphanet Code
ORPHA:91Aromatase deficiency
| MeSH | C537436 |
| Orphanet | ORPHA:91 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO