Sex-Hormone-Binding Globulin Deficiency

Role of D327N sex hormone-binding globulin gene polymorphism in the pathogenesis of polycystic ovary syndrome

“…Serum SHBG values are frequently low in patients with hyperandrogenism, especially in association with PCOS, and in individuals at risk for diabetes and heart disease [18,22,23]. High androgens and high insulin as well as increased upper body and overall adiposity are able to decrease SHBG [15,21,24], however, SHBG values may also be genetically determined [26,27]. D327N polymorphism in the SHBG gene introduces an additional coding sequence for an N-glycosylation site, which does not affect the binding of steroids to SHBG but increases the half-life of the protein [30].…”

“…Reduced SHBG levels are also associated with an adverse blood lipid profile, including reduced HDL-cholesterol [24,25]. Moreover, inherited SHBG deficiencies have been reported [26,27].…”

Molecular Properties of Corticosteroid Binding Globulin and the Sex-Steroid Binding Proteins*

“…Since SHBG or ABP is not produced by the rat liver postnatally (85,86), it is conceivable that hepatic synthesis of SHBG is important during fetal life, even in rats. In this context, despite one unconfirmed report of undetectable levels of SHBG in human serum (87), it is perhaps significant that more than 1,000,000 human serum samples have been analyzed using an immunoradiometric assay (88), and there has been no report of an absence of SHBG in a single sample (Dr. Bolton, Farmos Diagnostica, Oulunsalo, Finland, personal communication). As in the case of CBG, it is therefore likely that SHBG gene expression is essential during development, and that SHBG, or a related gene product, may be involved in important functions other than sex-steroid transport.…”

Genetic effects on serum testosterone and sex hormone-binding globulin in men: a Korean twin and family study

“…SHBG also exhibits wide inter-individual variation, and diverse factors contribute to the regulation of SHBG, which makes the study of testosterone more complicated 1516. Therefore, it seems necessary to know the influence of genetics on SHBG, which confounds the understanding of how SHBG controls testosterone levels and its effects on health 1013…”