Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency.

Abstract

Vitamin E possesses potent beneficial effects on mammalian spermatogenesis and sperm quality. Subjects affected by cerebellar ataxia due to congenital isolated vitamin E deficiency (AVED) show vitamin E deficiency caused by a selective impaired gastrointestinal absorption of vitamin E for a mutation in the gene for α-tocopherol transfer protein leading to impairment of vitamin E absorption and decreased vitamin E plasma levels. Here, we present a 34-year-old male patient with AVED showing normal seminal parameters and normal gonadotrophins, testosterone and inhibin B plasma levels. The normal standard seminal parameters of this patient with AVED possibly question the role of vitamin E in human spermatogenesis.

• Authors: M Rossato, C Mariotti
• Journal: Andrologia (Andrologia) Vol. 46 Issue 3 Pg. 322-4 (Apr 2014) ISSN: 1439-0272 [Electronic] Germany
• PMID: 23445347 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2013 Blackwell Verlag GmbH.

Chemical References

• Carrier Proteins
• alpha-tocopherol transfer protein
• Vitamin E

Topics

• Adult
• Carrier Proteins (genetics)
• Cerebellar Ataxia (etiology, physiopathology)
• Humans
• Male
• Mutation
• Spermatogenesis (genetics, physiology)
• Spermatozoa (physiology)
• Vitamin E (physiology)
• Vitamin E Deficiency (complications, congenital, genetics)