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Case report and literature review: novel TXNRD2 compound heterozygous variants in familial glucocorticoid deficiency type 5

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Mutations of MC2R, MRAP, STAR, NNT, and TXNRD2 have been implicated in FGD pathogenesis. To date, only four families with TXNRD2-associated familial Glucocorticoid Def...

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Hoofdauteurs: Xiaoyan Wang, Xiuli Chen, Ting Chen, Rongrong Xie, Qi Lin Chen, Haiying Wu, Fengyun Wang
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2025-07-01
Reeks:Frontiers in Pediatrics
Onderwerpen:
FGD5
TXNRD2
exome sequencing
qPCR
glucocorticoid deficiency
Online toegang:https://www.frontiersin.org/articles/10.3389/fped.2025.1585582/full
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