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A follow-up history of young man with apparent cortisone reductase deficiency (ACRD) - several years after diagnosis.

Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2017

Zajkowska Adrianna, Rydzewska Marta, Wojtkielewicz Katarzyna, Pomaski Janusz, Romer Tomasz, Bossowski Artur

Abstract excerpt

INTRODUCTION: Inactivating mutations in the enzyme hexose-6-phosphate dehydrogenase (H6PDH), the enzyme responsible for NADPH generation playing critical role in 11-hydroxysteroid dehydrogenase type 1 (11b-HSD1) activity, cause apparent cortisone reductase deficiency (ACRD). It leads to increased metabolic clearance rate of cortisol due to a defect in cortisone to cortisol conversion by 11b-HSD1. We want to...

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PMID: 29073307
DOI: 10.18544/PEDM-23.01.0073

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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