Serum sex hormone-binding globulin levels are reduced and inversely associated with intrahepatic lipid content and saturated fatty acid fraction in adult patients with glycogen storage disease type 1a

J Endocrinol Invest. 2022 Jun;45(6):1227-1234. doi: 10.1007/s40618-022-01753-2. Epub 2022 Feb 7.

Abstract

Purpose: De novo lipogenesis has been inversely associated with serum sex hormone-binding globulin (SHBG) levels. However, the directionality of this association has remained uncertain. We, therefore, studied individuals with glycogen storage disease type 1a (GSD1a), who are characterized by a genetic defect in glucose-6-phosphatase resulting in increased rates of de novo lipogenesis, to assess the downstream effect on serum SHBG levels.

Methods: A case-control study comparing serum SHBG levels in patients with GSD1a (n = 10) and controls matched for age, sex, and BMI (n = 10). Intrahepatic lipid content and saturated fatty acid fraction were quantified by proton magnetic resonance spectroscopy.

Results: Serum SHBG levels were statistically significantly lower in patients with GSD1a compared to the controls (p = 0.041), while intrahepatic lipid content and intrahepatic saturated fatty acid fraction-a marker of de novo lipogenesis-were significantly higher in patients with GSD1a (p = 0.001 and p = 0.019, respectively). In addition, there was a statistically significant, inverse association of intrahepatic lipid content and saturated fatty acid fraction with serum SHBG levels in patients and controls combined (β: - 0.28, 95% CI: - 0.47;- 0.09 and β: - 0.02, 95% CI: - 0.04;- 0.01, respectively).

Conclusion: Patients with GSD1a, who are characterized by genetically determined higher rates of de novo lipogenesis, have lower serum SHBG levels than controls.

Keywords: De novo lipogenesis; Glycogen storage disease type 1a; Intrahepatic lipid content; Sex hormone-binding globulin.

MeSH terms

  • Adult
  • Case-Control Studies
  • Fatty Acids / blood
  • Glycogen Storage Disease Type I* / blood
  • Humans
  • Sex Hormone-Binding Globulin* / metabolism

Substances

  • Fatty Acids
  • SHBG protein, human
  • Sex Hormone-Binding Globulin

Supplementary concepts

  • Hepatorenal form of glycogen storage disease