Total Deficiency of Corticosteroid‐binding Globulin

Abstract

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.

Greater replication and differentiation of preadipocytes in inherited corticosteroid-binding globulin deficiency

“…A previous report of complete CBG deficiency described a boy, born to parents who were first cousins, who came to medical attention because he was obese. He was assessed as being CBG deficient on the basis of a lack of cortisol binding in serum and low total serum cortisol but with normal free cortisol levels (31). There are two CBG mutations associated with reduced cortisol-binding efficiency.…”

Physiology and Pathophysiology of the HPA Axis

“…Circulating CBG concentrations levels are increased by estrogens and in some patients with chronic active hepatitis but reduced by glucocorticoids and in patients with cirrhosis, nephrosis, and hyperthyroidism (89). Inherited abnormalities in CBG synthesis are rare and include elevated CBG, partial and complete deficiency of CBG, or CBG variants with reduced affinity for cortisol (90)(91)(92). Ability of glucocorticoids in the systemic circulation to reach target cells is also affected by transporter proteins, which belong to the ATP-binding cassette family.…”

Corticosteroid-Binding Globulin Gene Mutations and Chronic Fatigue/Pain Syndromes: An Overview of Current Evidence

“…A well-accepted explanation for the development of CFS or even the relative contribution of the different possible mechanisms, however, remains elusive. CFS, a debilitating disease sharing many features with fibromyalgia 50 , CWP and similar idiopathic chronic fatigue syndromes, significantly impairs a patient's quality of life 51 , 52 , social 53 and emotional well being 54 , 55 , besides putting considerable economic strain on the community 56 . It is, therefore, imperative that a better understanding of the causation of CFS and related disorders is achieved to enable development of effective therapeutic options, which are currently lacking 57 .…”