Progress in the study of familial glucocorticoid deficiency
10.3760/cma.j.issn.1000-6699.2019.10.016
- VernacularTitle:家族性糖皮质激素缺乏症研究进展
- Author:
Aiai LUO
1
;
Zhifang WANG
;
Xialian LI
Author Information
1. 云南省第一人民医院昆明理工大学附属医院老年病科 650032
- Keywords:
Familial glucocorticoid deficiency;
Gene mutations
- From:
Chinese Journal of Endocrinology and Metabolism
2019;35(10):888-892
- CountryChina
- Language:Chinese
-
Abstract:
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.
