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A Case Report: Familial Glucocorticoid Deficiency Associated With Familial Focal Segmental Glomerulosclerosis, Nanik Ram, Ali Asghar, Najmul Islam
A Case Report: Familial Glucocorticoid Deficiency Associated With Familial Focal Segmental Glomerulosclerosis, Nanik Ram, Ali Asghar, Najmul Islam
Section of Diabetes, Endocrinology and Metabolism
Background: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency in the presence of normal plasma renin and aldosterone level. Focal segmental glomerulosclerosis (FSGS) is a form of glomerular disease associated with proteinuria and nephritic syndrome. This is the first case of familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis.
Case Presentation: An eight month old boy presented with increased genital pigmentation. Initial investigation revealed that he was glucocorticoid deficient and was started on hydrocortisone and fludrocortisone with a diagnosis of primary adrenal insufficiency. Later fludrocortisone was withdrawn and he was diagnosed to …