An Atypical Case of Familial Glucocorticoid Deficiency without Pigmentation Caused by Coexistent Homozygous Mutations in MC2R (T152K) and MC1R (R160W)

CONTEXT: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated cortisol deficiency. Mutations in the gene encoding the ACTH receptor (MC2R) account for 25% of cases. One significant feature is generalized skin hyperpigmentation, which is thought to...

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Detalles Bibliográficos
Autores principales: Turan, Serap, Hughes, Claire, Atay, Zeynep, Guran, Tulay, Haliloglu, Belma, Clark, Adrian J. L., Bereket, Abdullah, Metherell, Louise A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2012
Materias:
JCEM Online: Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3396854/
https://www.ncbi.nlm.nih.gov/pubmed/22337906
http://dx.doi.org/10.1210/jc.2011-2414

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