The role of the deficiency of vitamin B12 and folic acid on homocysteinemia in children with Turner syndrome

J Pediatr Endocrinol Metab. 2022 Dec 20;36(2):147-151. doi: 10.1515/jpem-2022-0482. Print 2023 Feb 23.

Abstract

Objectives: Premature atherosclerosis and ischemic heart disease represent a major cause of comorbidities among children with Turner syndrome. The identification of non-traditional risk aspects is crucial for the early identification and management of such comorbidities through establishing effective preventive measures. The aim of the study is to explore the role of the deficiency of vitamin B12, folic acid and homocysteine in children with Turner syndrome.

Methods: The study included 78 children with Turner syndrome and 67 healthy age and sex matched children. Karyotype was implemented for all patients. The serum levels of vitamin B12, folic acid and serum homocysteine were assessed. The prevalence of the deficiency of vitamin B12 and folic acid was estimated to study its correlation to hyperhomocysteinemia in Turner syndrome children.

Results: The karyotype analysis showed 45,X (monosomy X) in the 78 patients. Vitamin B12 and folic acid were significantly decreased in children with Turner syndrome in 65-73% of the patients, respectively, while the serum level of homocysteine significantly increased to 48.7% compared to healthy controls. Homocysteine level negatively correlated with vitamin B12 and folic acid. The deficiency of vitamin B12 and folic acid increased the risk of hyperhomocysteinemia in children with Turner syndrome (OR 2.49 and 2.36, respectively).

Conclusions: This report highlights that hyperhomocyste-inemia in children with Turner syndrome may be related to the deficiency vitamin B12 and folic acid.

Keywords: folic acid; homocysteine; turner syndrome; vitamin B12.

MeSH terms

  • Child
  • Folic Acid
  • Folic Acid Deficiency* / complications
  • Homocysteine
  • Humans
  • Hyperhomocysteinemia* / complications
  • Hyperhomocysteinemia* / epidemiology
  • Turner Syndrome* / complications
  • Turner Syndrome* / epidemiology
  • Vitamin B 12
  • Vitamin B 12 Deficiency* / complications
  • Vitamin B 12 Deficiency* / epidemiology

Substances

  • Vitamin B 12
  • Folic Acid
  • Homocysteine

Supplementary concepts

  • Homocysteinemia