Endocrine Abstracts

JOINT1551

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder that is primarily characterized by isolated glucocorticoid deficiency. Mutations of MC2R, MRAP, STAR, NNT, and TXNRD2 have been shown to cause FGD. There have been 2 cases reported of mutations in the TXNRD2 gene causing familial glucocorticoid deficiency-5 (FGD5) in the world. We report a patient who had clinical features consistent with FGD5, increasing the total number of reported cases. This patient is the third case in the world. The details of this case confirm the importance of the TXNRD2 gene in adrenal cortex redox homeostasis and provide further insights into the nature of FGD5. Further experiments demonstrate that the newly identified variant causes a decrease of TXNRD2 protein levels when expressed in a heterologous expression system. The TXNRD2 compound heterozygote variant can cause FGD5. The TXNRD2 compound heterozygote variant of FGD5 may be associated with abnormal findings on electrocardiography. Our case expands on this genetic variation and provides new evidence for the clinical diagnosis of FGD5.