Abstract
The reproductive hormone function was investigated in three subjects, two brothers and one unrelated patient, with a Robertsonian translocation, who had come to us because of infertility. Basal levels of LH, FSH, testosterone, 17-beta-estradiol and prolactin were repeatedly measured by radioimmunoassays. In addition, clomiphene citrate, synthetic LH-RH, hCG and TRH tests were carried out. Karyiotypes complemented by G-banding and C-banding, repeated semen analyses, and testicular biopsies were also obtained. The karyotype of all three subjects was 45, XY -13, -14, +1 (13; 14) (p11; q11 ). Semen analyses showed oligozoospermia, and reduced or reduced/normal sperm motility. I n addition, a high percentage of atypical forms was present in all three subjects. Reproductive hormone measurements in our three patients were substantially normal. Only one of the two brothers exhibited slightly low LH and testosterone levels. Both brothers also had elevated estradiol levels. Gonadotropin and testosterone responses to respective provocative stimuli, as well as prolactin elevation following TRH, were normal. In conclusion, the semen abnormalities observed in these three subjects with Robertsonian translocation appear to be responsible for their impaired fertility. However, the reason why some carriers of the same translocation are fertile and some others ’are subfertile or infertile remains unclear. It might be speculated that an individual genetic variability is responsible for different degrees of spermato-genic failure, accompanied, in more severe cases, also by reproductive hormone disorders.
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References
Fraccaro M., Tiepolo L, Zuffardi O., Giarola A., Chiara F. The role of chromosome unbalance in male subfertility. In: Szabò G., Papp Z. (Eds.), Medical genetics. Excerpta Medica, Amsterdam/Oxford, 1977, p. 173.
Fraccaro M., Maraschio P., Pasquali F., Tiepolo L, Orset-ta Z., Giarola A. Male infertility and 13/14 translocation. Lancet 7: 488, 1973.
Palmer C.G., Morris J.L., Thompson B.H., Nance W.E. Fertility and 13/14 translocation. Lancet 1:728, 1973.
Lucas M., Wallace I., Hirschorn K. Recurrent abortions and chromosome abnormalities. Br. J. Obstet. Gynaec. Col. 79: 1119, 1972.
Faed M.J.W., Robertson J., Lamont M.A., Mac Intosh W., Grieve J., Baxby K., James G.B., Crowder A.M. A cytogenetic survey of men being investigated for sterility. J. Reprod. Fertil. 56: 209, 1979.
Marmor D., Taillemite J.L., Van den Akker J., Portnoi M.F., Le Porrier N., Joye N., Delafontaine D., Roux C. Semen analysis in subfertile balanced-translocation carriers. Fertil. Steril. 34: 496, 1980.
De Kretser D.M., Burger H.G., Fortune D., Hudson B Long A.R., Paulsen CA., Taft H.P. Hormonal, histological and chromosomal studies in adult males with testicular disorders. J. Clin. Endocrinol. Metab. 35: 392, 1972.
Plymate S.R., Bremner W.J., Paulsen C.A. The association of D-group chromosomal translocations and defective spermatogenesis. Fertil. Steril. 27: 139, 1976.
Moorhead P.S., Nowell P.C., Mellman W.J., Battips D.M.. Hungerdord D.A. Chromosomal preparations of leukocytes from human peripheral blood. Exp. Cell. Res. 20: 613, 1960.
Evans H.J., Buckton K.E., Sumner AT. Cytological mapping of human chromosomes: results obtained with quinacrine fluorescence and the acetic-saline-Giemsa techniques. Chromosoma 35: 310, 1971.
Seabright M. A rapid banding for human chromosomes. Lancet 2: 971, 1971.
Sumner AT. A simpletechniquefor demonstrating centromerichete-rochromatin. Exp. Cell Res. 75: 304, 1972.
Paris Conference 1971. Standardization in human cytogenetics birth defects. Original article series, vol. 8, n. 7, The Nat Found, New York, 1972.
Kastin A.J., Shally A.V., Gaul C., Arimura A. Release of LH and FSH after administration of synthetic LH-Releasing Hormone. J. Clin. Endocrinol. Metab. 34: 753, 1972.
Hashimoto T., Miyai K., Izumi K., Kumahara Y. Gonadotropin response to synthetic LH-RH in normal subjects: correlation between LH and FSH. J. Clin. Endocrinol. Metab. 37: 910, 1973.
Santen R.J., Leonard J.M., Sherins R.J., Gaudy H.M., Paulsen C.A. Short- and long-term effects of clomiphene citrate on the pituitary-testicular axis. J. Clin. Endocrinol. Metab. 33: 970, 1971.
Peterson N.T., Midgley A.R., Jaffe R.B. Regulation of human gonadotropins. III. Luteinizing hormone and Follicle Stimulating hormone in sera from adult males. J. Clin. Endocrinol. Metab. 28: 1473, 1968.
Guanti G., Zuffardi O., Tiepolo L. rDNA levels in infertile male carriers of Robertsonian translocations. Cytogenet. Cell Genet. 27: 162, 1980.
Chandley A.C., Christie S., Flechter S., Frackiewicz A., Jacobs P.A. Translocation heterozygosity and associated subfertility in man. Cytogenetics 77: 516, 1972.
Brown T., Robertson F.W., Dawson B.M., Hanglin S.J., Page B.M. Individual variation of centric heterochromatin in man. Hum. Genet. 55: 367, 1980.
Smith K.D., Rodriguez-Rigau L.J., Steinberger E. Relation between indices of semen analysis and pregnancy rate in infertile couples. Fertil. Steril. 28: 1314, 1977.
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Uccellatore, F., Padova, G. & Squatrito, S. Reproductive hormone studies in three subjects with a Robertsonian translocation. J Endocrinol Invest 6, 479–484 (1983). https://doi.org/10.1007/BF03348348
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DOI: https://doi.org/10.1007/BF03348348