Abstract

Girls with Turner syndrome (TS) are at increased risk of developing insulin resistance and coronary artery disease as a result of hypertension and obesity frequently seen in these patients. On the other hand, it is known that obesity is associated with increased serum levels of branched-chain amino acids (BCAAs: valine; leucine and isoleucine) and aromatic amino acids. The aim of the study is to compare the metabolic fingerprint of girls with TS to the metabolic fingerprint of girls with obesity. Metabolic fingerprinting using an untargeted metabolomic approach was examined in plasma from 46 girls with TS (study group) and 22 age-matched girls with obesity (control group). The mean values of BCAAs, methionine, phenylalanine, lysine, tryptophan, histidine, tyrosine, alanine and ornithine were significantly lower in the study group than in the control (p from 0.0025 to <0.000001). Strong significant correlation between BCAAs, phenylalanine, arginine, tyrosine, glutamic acid, citrulline and alanine, and body mass index expressed as standard deviation score BMI-SDS in the patients with obesity (p from 0.049 to 0.0005) was found. In contrast; there was no correlation between these amino acids and BMI-SDS in the girls with TS. It is suggested that obesity in patients with TS is not associated with altered amino acids metabolism.

Highlights

  • Turner syndrome (TS) is a congenital disease caused by absence or structural abnormalities of sex chromosomes, resulting in short stature and gonadal dysgenesis

  • No significant differences in mean values of glucose, insulin and free fatty acids (FFAs) levels, as well as HOMA-IR, between TS patients on Growth hormone (GH) therapy and TS patients without GH therapy were noticed

  • The mean values of valine, isoleucine, leucine, methionine, phenylalanine, lysine, tryptophan, histidine, tyrosine, alanine and ornithine were significantly lower in the study group than in the control (p from 0.0025 to

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Summary

Introduction

Turner syndrome (TS) is a congenital disease caused by absence or structural abnormalities of sex chromosomes, resulting in short stature and gonadal dysgenesis. Body composition is altered in women with TS. Women with Turner syndrome are at increased risk of developing insulin resistance syndrome and coronary artery disease as a result of hypertension and obesity, frequently seen in these patients [1,2,3,4]. Growth hormone (GH) treatment in girls with TS has a beneficial effect for body composition and lipid profile, but it may affect glucose metabolism and increase insulin resistance [5,6]. It is known that most patients who develop type 2 diabetes during GH treatment have preexisting risk factors for impairment of glucose homeostasis [7]

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