Ontology highlight
ABSTRACT:
SUBMITTER: Kim CJ
PROVIDER: S-EPMC2752790 | biostudies-literature | 2009 Oct
REPOSITORIES: biostudies-literature
Kim Chan Jong CJ Woo Young Jong YJ Kim Gu Hwan GH Yoo Han Wook HW
Journal of Korean medical science 20090923 5
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by severe glucocorticoid deficiency associated with failure of adrenal responsiveness to ACTH but no mineralocorticoid deficiency. We report a 2 month-old boy of nonconsanguineous parents, presented with hyperpigmentation. Physical examination showed diffuse dark skin of body including, oral mucosa, gum, hands, nails and scrotum. Laboratory evaluation revealed low serum cortisol (0.3 microg/dL), with ve ...[more]