1.
Chinese Journal of Endocrinology and Metabolism
;
(12): 888-892, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-791733
RESUMO
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by a single cortisol deficiency and normal aldosterone and renin levels, reported by Shepard et al. in 1959 for the first time. The age of FGD onset may be early or later, from neonatal to adult. The clinical manifestations vary due to the different age at onset. The clinical identification was difficult and would be prone to misdiagnosis because the disease may have many similarities with primary adrenal insufficiency (PAI) caused by other reasons.