5-alpha-reductase deficiency

ICD-10: E29.1ORPHA: 753

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 5-alpha-reductase deficiency, sourced from HPO and Orphanet clinical annotations.

CryptorchidismAmbiguous genitalia, maleSmall scrotumBifid scrotumPerineal hypospadiasAmbiguous genitaliaDecreased fertilityAbnormality of the endocrine systemHypoplasia of penisUrogenital sinus anomaly

Classification & Codes

ICD-10 Code

E29.1

Orphanet Code

ORPHA:753
5-alpha-reductase deficiency
ICD-10E29.1
OrphanetORPHA:753
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO