Familial glucocorticoid deficiency due to a novel TXNRD2 variant: expanding the spectrum of a rare genetic cause - Takeaways - MDSpire

Familial glucocorticoid deficiency due to a novel TXNRD2 variant: expanding the spectrum of a rare genetic cause

  • By

  • Ibrahim Al Alwan

  • Kheloud M. Alhamoudi

  • Abdullah Ibrahim Alzaben

  • Beshaier Almulhem

  • Nawal Qawasmi

  • Meshael Alswailem

  • Sara Alotaibi

  • Burair Alsaihati

  • Amjad Jabaan

  • Moeber Mahzari

  • Christa E. Flück

  • Ali S. Alzahrani

  • May 28, 2026

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  • 1

    Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by cortisol deficiency and elevated ACTH levels.

  • 2

    A novel homozygous TXNRD2 variant (c.575C>T) was identified in a Saudi patient with FGD, expanding the genetic spectrum of this condition.

  • 3

    The TXNRD2 variant affects a highly conserved residue and is predicted to have deleterious effects on protein structure and function.

  • 4

    No pathogenic variants were found in other known FGD-associated genes, indicating the uniqueness of the identified TXNRD2 variant.

  • 5

    This study highlights the role of mitochondrial redox dysregulation in adrenal insufficiency and adds to the understanding of TXNRD2-related FGD.

Original Source(s)

Familial glucocorticoid deficiency due to a novel TXNRD2 variant: expanding the spectrum of a rare genetic cause

  • by Ibrahim Al Alwan, Kheloud M. Alhamoudi, Abdullah Ibrahim Alzaben, Beshaier Almulhem, Nawal Qawasmi, Meshael Alswailem, Sara Alotaibi, Burair Alsaihati, Amjad Jabaan, Moeber Mahzari, Christa E. Flück, Ali S. Alzahrani

  • May 28, 2026

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