Abstract
A 32 year old virile male was evaluated for sterility consequent to hypospermia. Physically he was a normal male other than that his right testis was firm and small. Blood FSH and LH were markedly elevated, testosterone was low normal, cell surface HY antigen was positive, and chromosomal analysis was 46,XY/47,XYY. Sperm ducts aspirates demonstrated 3-4 poorly mobile abnormal sperm per microscopic field but there was no sperm in ejaculate. The patient's Y chromosome was smaller than his chromosome #21. Compared to his chromosome #18, his Y chromosome was significantly smaller than like comparisons in 6 normal males (p=0.0002). Likewise, the patient's short and non-fluorescent long Y chromosome arms were the same relative size as in normal males (p=0.54) suggesting that the patient may have lost some Yq fluroescent DNA. Analysis by DNA probes confirmed no deletions in either the patient's short or non-fluorescent Y long arms and similar analysis for the Yq fluorescent arm is in progress. The patient's father was not available for evaluation. Studies by others suggest that the presence of gene(s) on non-fluorescent Yq are necessary for normal spermatogenesis and that cell surface HY antigen may be their product. Our data support this hypothesis and also suggest that fluorescent Yq may also somehow be involved in normal human spermatogenesis.
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Wenger, S., Steele, M. & Ostrer, H. EVIDENCE THAT CELL SURFACE HY ANTIGEN IS NOT THE SOLE MEDIATOR OF NORMAL HUMAN SPERMATOGENESIS. Pediatr Res 21 (Suppl 4), 295 (1987). https://doi.org/10.1203/00006450-198704010-00766
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DOI: https://doi.org/10.1203/00006450-198704010-00766