Studies of malformation syndromes of man XLVII: disappearance of spermatogonia in the Fanconi anemia syndrome
- PMID: 267584
- DOI: 10.1007/BF00480592
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.
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