title: Studies of malformation syndromes of man XLVII: disappearance of spermatogonia in the Fanconi anemia syndrome.
abstract: A 15 year old boy with the Fanconi malformation-aplastic anemia syndrome developed erythroleukemia and died of multiple arterial thromboses and hemorrhage. He was one of 10 siblings including 3 affected sisters. He was short of stature and had hypoplastic thumbs; his testes were small and secondary sexual characteristics were inadequately developed. At autopsy he was found to have very few spermatogonia, i.e., a histological picture compatible with the "Sertoli-cell-only" defect. Male hypogonadism in other chromosome breakage syndromes (the Bloom syndrome and ataxia telangiectasia) may have a similar pathogenesis.
mesh_terms: D000293:Adolescent; D000741:Anemia, Aplastic / Q000473:pathology*; D001344:Autopsy; D005199:Fanconi Anemia / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006470:Hemorrhage / Q000150:complications; D006801:Humans; D007006:Hypogonadism / Q000150:complications; D004915:Leukemia, Erythroblastic, Acute / Q000150:complications / Q000473:pathology; D008297:Male; D013093:Spermatogonia; D013094:Spermatozoa; D013737:Testis / Q000473:pathology; D013927:Thrombosis / Q000150:complications
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