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17-beta-hydroxysteroid dehydrogenase deficiency

MeSH: C537805ORPHA: 752

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

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 17-beta-hydroxysteroid dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.

CryptorchidismMale pseudohermaphroditismHypospadiasAmbiguous genitaliaInfertilityClitoral hypertrophyInguinal herniaIncreased circulating androstenedione concentrationUrogenital sinus anomalyBifid scrotumGynecomastiaHypoplasia of penis

Classification & Codes

MeSH Code

C537805

Orphanet Code

ORPHA:752
17-beta-hydroxysteroid dehydrogenase deficiency
MeSHC537805
OrphanetORPHA:752
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO