ArticleCureus2025
Familial Glucocorticoid Deficiency Type 4 Caused by a Novel Mutation in the Nicotinamide Nucleotide Transhydrogenase (NNT) Gene: A Clinical Report of Two Siblings.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- A rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.Translational pediatrics · 2026Article
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8 authors.
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Abstract
Familial glucocorticoid deficiency (FGD) is a rare genetic disorder characterized by impaired cortisol production, resulting in primary adrenal insufficiency. Clinical manifestations include hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, often triggered by stress. FGD is commonly inherited in an autosomal recessive manner, with various genetic mutations contributing to its pathogenesis. This case report discusses two siblings diagnosed with FGD type 4 caused by a novel mutation in a gene associated with adrenal steroidogenesis. The siblings presented with symptoms such as hyperpigmentation and hypoglycemic episodes and were treated with hydrocortisone, leading to significant clinical improvement. This case highlights the importance of genetic testing for early diagnosis, enabling effective treatment and prevention of severe complications. Long-term follow-up and education remain vital for managing this condition.
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