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

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.