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Article

FDXR variants cause adrenal insufficiency and atypical sexual development.

JCI insight - 17 Jun 2024

Pignatti Emanuele, Slone Jesse, Gómez Cano María Ángeles, Campbell Teresa Margaret, Vu Jimmy, Sauter Kay-Sara, Pandey Amit V, Martínez-Azorín Francisco, Alonso-Riaño Marina, Neilson Derek E, Longo Nicola, du Toit Therina, Voegel Clarissa D, Huang Taosheng, Flück Christa E

Abstract excerpt

Genetic defects affecting steroid biosynthesis cause cortisol deficiency and differences of sex development; among these defects are recessive mutations in the steroidogenic enzymes CYP11A1 and CYP11B, whose function is supported by reducing equivalents donated by ferredoxin reductase (FDXR) and ferredoxin. So far, mutations in the mitochondrial flavoprotein FDXR have been associated with a progressive...

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Source

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Identifiers

PMID: 38885337
DOI: 10.1172/jci.insight.179071
PMCID: PMC11383170

Genes

FDXR
CYP11A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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