Total deficiency of corticosteroid-binding globulin.
An obese 15-year-old boy of Jewish Iranian origin who is the offspring of consanguineous parents was found to have very low levels of total cortisol in the plasma. Investigation of the family revealed a complete lack of cortisol-binding-globulin (CBG) in the proband and a sister, evidently the first cases of total CBG deficiency to be reported. The parents and a brother were found to have half the normal levels. This study indicates that CBG deficiency, a benign condition, is compatible with a codominant or recessive autosomal trait inheritance.
D000293:Adolescent; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D008297:Male; D009765:Obesity / Q000097:blood; D014156:Transcortin / Q000172:deficiency* / Q000235:genetics
D014156:Transcortin; D006854:Hydrocortisone