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Case Reports
. 1977 Jul 1;125(3):163-8.
doi: 10.1007/BF00480592.

Studies of malformation syndromes of man XLVII: disappearance of spermatogonia in the Fanconi anemia syndrome

G J Bargman, N T Shahidi, E F Gilbert, J M Opitz
Case Reports

Studies of malformation syndromes of man XLVII: disappearance of spermatogonia in the Fanconi anemia syndrome

G J Bargman et al. Eur J Pediatr. .

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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References

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