Endocrine Abstracts

Inherited CBG deficiencies are rarely reported and only 3 causative mutations in 4 families have been described. The objective of this study was to investigate a family with potential CBG deficiency.The index case, a 29-year-old female of Pakistani origin with consanguineous parents, presented with hirsutism and a slightly elevated 17-OHP. In a subsequent Short Synacthen Test (SST) 17-OHP was normal but serum cortisol (SerC) values were abnormal (case 1 ...