ArticleMolecular syndromology2023
A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.
Article in Molecular syndromology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- Novel Mutations in the MC2R Gene in a Patient With Familial Glucocorticoid Deficiency (FGD): A Case Report and Functional Study.Molecular genetics & genomic medicine · 2026Article
- Insights Into Pediatric Non-congenital Adrenal Hyperplasia: A Review Based on 5 Different Rare Cases with Primary Adrenal Insufficiency.Turkish archives of pediatrics · 2025Article
- Clinical and Genetic Mechanisms in Patients with <italic>MC2R</italic> Deficiency Presenting with Early Puberty.Hormone research in paediatrics · 2025Article
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10 authors.
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Abstract
Background: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency without mineralocorticoid deficiency. We report 3 Chinese patients with Case Reports: Patient 1 presented with hyperpigmentation. Endocrine investigations revealed low serum cortisol levels and elevated adrenocorticotropic hormone (ACTH) levels. Furthermore, low serum sodium was evident. She was diagnosed with FGD type 2 due to a homozygous mutation in Conclusions: Three patients were diagnosed with FGD (one with FGD type 1 and two with FGD type 2). They all presented with hyperpigmentation and hypoglycemia; however, compared with patient 1, the clinical manifestations of patient 2 were more complicated. Patient 3 had later onset and taller stature than patients 1 and 2. A novel mutation in patient 3 expands the mutation spectrum of
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