complete androgen insensitivity syndrome

ICD-10: E34.1ORPHA: 99429

Overview

intersex variation where one has no response to androgens and is born with a vulva and clitoris

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 complete androgen insensitivity syndrome, sourced from HPO and Orphanet clinical annotations.

Increased serum testosterone levelBlind vaginaAnxietyDelayed pubertySparse axillary hairAbsent axillary hairSparse pubic hairAbsent pubic hairIncreased circulating antimullerian hormone concentrationDepressionTesticular neoplasmAcneAbnormal circulating follicle-stimulating hormone concentrationGerm cell neoplasiaAbnormal morphology of female internal genitaliaTall statureAplasia of the uterusPrimary amenorrheaMale infertilityAplasia/Hypoplasia of the fallopian tubeBilateral cryptorchidismFemale external genitalia in individual with 46,XY karyotypeElevated circulating luteinizing hormone levelAbnormal uterine cervix morphologyIncreased serum estradiol

Classification & Codes

ICD-10 Code

E34.1

Orphanet Code

ORPHA:99429
complete androgen insensitivity syndrome
ICD-10E34.1
OrphanetORPHA:99429
Treatments0 drug(s)
Symptoms on record25 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO