An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

Turan S., Hughes C., Atay Z., GÜRAN T., Haliloglu B., Clark A. J. L., ...Daha Fazla

The Journal of clinical endocrinology and metabolism, cilt.97, sa.5, 2012 (SCI-Expanded) identifier identifier identifier

Özet

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 be due to elevated ACTH acting on the melanocortin 1 receptor (MC1R).