Advances in familial glucocorticoid deficiency

Abstract

Familial glucocorticoid deficiency(FGD) known as one of primary congenital adrenal hypoplasia diseases, is a rare autosomal recessive disorder.FGD is characterised by isolated glucocorticoid deficiency, therefore the patients exhibit low serum cortisol and high plasma adrenocorticotropic hormone levels.The patients typically present with hypoglycemia, recurrent infections, hyperpigmentation and tall stature.Much research on the pathogenic genes and molecular biology mechanisms have been performed, and presently some pathogenic genes have been discovered.In order to enhance the clinicians′understanding of familial glucocorticoid deficiency, this review focuses on the pathogenic genes, pathogenesis, diagnosis and treatments of the disease. Key words: Familial glucocorticoid deficiency; Pathogenic genes; Pathogenesis; Treatment