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cortisone reductase deficiency

MeSH: C536447ORPHA: 168588

Contents

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

Overview

endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism

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 cortisone reductase deficiency, sourced from HPO and Orphanet clinical annotations.

HypertensionIrregular menstruationCongenital adrenal hyperplasiaElevated serum 11-deoxycortisolIncreased circulating androgen concentrationAbnormal circulating deoxycorticosterone levelPrecocious pubertyHypokalemiaDecreased circulating renin concentrationPremature adrenarche

Classification & Codes

MeSH Code

C536447

Orphanet Code

ORPHA:168588
cortisone reductase deficiency
MeSHC536447
OrphanetORPHA:168588
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO