Familial decrease in corticosteroid-binding globulin

Abstract

Despite continuing extensive investigations of the corticosteroid-binding globulin (CBG) in man, to date no reports of a familial alteration in its plasma concentration have appeared. The present report gives information on studies done on 3 generations of a family found to have diminished plasma CBG concentration. CBG concentration in the propositus was 17 mg./L. (normal 23–46 mg./L.), was 17 mg./L. in her mother, 16–20 mg./L. in 2 brothers and 16–17 mg./L. in 2 sisters. Three of 4 members of the third generation were abnormal (15–20 mg./L.). The response of plasma CBG in the propositus to estrogen was subnormal with an increase of only 22 mg./L. following I week of 5 mg. diethylstilbestrol (normal 32–89 mg./L.). Morning plasma 17-OHCS concentration was significantly below normal in affected individuals (mean 6.7 μ g. 100 ml. ), but nonprotein-bound 17-OHCS concentration was normal. Urinary 17-OHCS excretion was 4.2–5.6 mg. 24 hrs. (normal 4–10 mg. 24 hrs. ). The mode of inheritance appeared to be autosomal dominant, and the affected members were healthy, intelligent and prolific.