Cataracts and testicular failure in three brothers.
I report on three brothers with a syndrome of adolescent cataracts and infertility. Follicle-stimulating hormone (FSH) levels were elevated, suggesting testicular failure. Their parents were second cousins, suggesting autosomal recessive inheritance. Hypogonadism and cataracts occur in several syndromes, but with other findings. This association is probably more than fortuitous, and a common pathogenesis may be involved.
D000328:Adult; D002386:Cataract / Q000150:complications / Q000235:genetics*; D003241:Consanguinity; D005640:Follicle Stimulating Hormone / Q000097:blood; D005808:Genes, Recessive; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000235:genetics*; D007248:Infertility, Male / Q000150:complications / Q000235:genetics*; D008297:Male; D013577:Syndrome
D005640:Follicle Stimulating Hormone