ArticleFrontiers in endocrinology2026
Familial glucocorticoid deficiency due to a novel
Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated cortisol deficiency and elevated adrenocorticotropic hormone (ACTH) levels. Variants in Methods: Whole-genome sequencing (WGS) was performed in a proband from a Saudi family who presented in early childhood with clinical and biochemical features consistent with FGD (Low basal and stimulated cortisol of < 5 nmol/l and extremely elevated ACTH levels of > 2500 pg/ml) and seizure disorder requiring medical treatment and with basal ganglia changes noted on brain MRI at presentation. WGS identified a novel likely pathogenic Results: WGS identified a novel missense homozygous Conclusion: This report adds another patient with a novel variant to the few previously described patients and expands the genetic spectrum of the very rare
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