A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing.

To the Editor: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency and increased adrenocorticotropic hormone (ACTH) with absence of mineralocorticoid deficiency.[1] The 18-month-old girl was taken to the pediatric clinic due to fever persisting for 1 day and cyanotic lips after birth. Plasma renin-aldosterone activity and gonadal hormones were normal, and cranial, uterus, and ovary ultrasonography results were normal. [Extracted from the article]