title: 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: Department of Internal Medicine, Clinica Medica 3, University of Padova, Padova, Italy.
authors: M
authors: M
authors: Rossato
authors: C
authors: C
authors: Mariotti
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D002524:Cerebellar Ataxia / Q000209:etiology* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009154:Mutation; D013091:Spermatogenesis / Q000235:genetics / Q000502:physiology; D013094:Spermatozoa / Q000502:physiology; D014810:Vitamin E / Q000502:physiology; D014811:Vitamin E Deficiency / Q000150:complications / Q000151:congenital* / Q000235:genetics
chemical_list: D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein; D014810:Vitamin E
keywords: AVED; human; spermatogenesis; vitamin E