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Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome.
J Clin Endocrinol Metab. 1999 Oct; 84(10):3807-10.JC

Abstract

Azoospermic subjects affected by Klinefelter's syndrome may occasionally show the presence of intratesticular residual foci of spermatogenesis, and the retrieval of mature spermatozoa from the testis may permit fertility and paternity by means of intracytoplasmic sperm injection. Previous studies have demonstrated that these subjects show the presence of an increased incidence of hyperaploid spermatozoa. Here we analyzed, by fluorescence in situ hybridization using specific probes for chromosomes 8, X, and Y, the spermatogenic process and the meiotic progression of 47,XXY germ cells retrieved by fine needle aspiration of the testis in ten azoospermic patients affected by classic Klinefelter's syndrome. All patients had lower testicular volume, higher gonadotropins, and lower testosterone plasma levels compared with control subjects. Cytological analysis of the testicular cells retrieved by fine needle aspiration showed the presence of Sertoli cells only in eight subjects, while germ cells were observed in two patients. In each patient Sertoli cells showed a 47,XXY karyotype, and the same chromosome pattern was observed in spermatogonia and primary spermatocytes of patients presenting a residual spermatogenesis. Secondary spermatocytes, spermatids, and mature spermatozoa showed different sex chromosome patterns, reflecting their origin from 47,XXY spermatogonia. In conclusion, this study demonstrated that, in subjects affected by Klinefelter's syndrome, residual germ cells may be present in the testis and that 47,XXY spermatogonia are able to undergo and complete the spermatogenic process leading to mature spermatozoa. These data further suggest the need to evaluate the sex chromosome status of sperm from patients affected by Klinefelter's syndrome undergoing assisted reproductive techniques.

Authors+Show Affiliations

University of Padua, Department of Medical and Surgical Sciences, Clinica Medica 3, Italy. forestac@protec.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10523034

Citation

Foresta, C, et al. "Analysis of Meiosis in Intratesticular Germ Cells From Subjects Affected By Classic Klinefelter's Syndrome." The Journal of Clinical Endocrinology and Metabolism, vol. 84, no. 10, 1999, pp. 3807-10.
Foresta C, Galeazzi C, Bettella A, et al. Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome. J Clin Endocrinol Metab. 1999;84(10):3807-10.
Foresta, C., Galeazzi, C., Bettella, A., Marin, P., Rossato, M., Garolla, A., & Ferlin, A. (1999). Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome. The Journal of Clinical Endocrinology and Metabolism, 84(10), 3807-10.
Foresta C, et al. Analysis of Meiosis in Intratesticular Germ Cells From Subjects Affected By Classic Klinefelter's Syndrome. J Clin Endocrinol Metab. 1999;84(10):3807-10. PubMed PMID: 10523034.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome. AU - Foresta,C, AU - Galeazzi,C, AU - Bettella,A, AU - Marin,P, AU - Rossato,M, AU - Garolla,A, AU - Ferlin,A, PY - 1999/10/16/pubmed PY - 1999/10/16/medline PY - 1999/10/16/entrez SP - 3807 EP - 10 JF - The Journal of clinical endocrinology and metabolism JO - J. Clin. Endocrinol. Metab. VL - 84 IS - 10 N2 - Azoospermic subjects affected by Klinefelter's syndrome may occasionally show the presence of intratesticular residual foci of spermatogenesis, and the retrieval of mature spermatozoa from the testis may permit fertility and paternity by means of intracytoplasmic sperm injection. Previous studies have demonstrated that these subjects show the presence of an increased incidence of hyperaploid spermatozoa. Here we analyzed, by fluorescence in situ hybridization using specific probes for chromosomes 8, X, and Y, the spermatogenic process and the meiotic progression of 47,XXY germ cells retrieved by fine needle aspiration of the testis in ten azoospermic patients affected by classic Klinefelter's syndrome. All patients had lower testicular volume, higher gonadotropins, and lower testosterone plasma levels compared with control subjects. Cytological analysis of the testicular cells retrieved by fine needle aspiration showed the presence of Sertoli cells only in eight subjects, while germ cells were observed in two patients. In each patient Sertoli cells showed a 47,XXY karyotype, and the same chromosome pattern was observed in spermatogonia and primary spermatocytes of patients presenting a residual spermatogenesis. Secondary spermatocytes, spermatids, and mature spermatozoa showed different sex chromosome patterns, reflecting their origin from 47,XXY spermatogonia. In conclusion, this study demonstrated that, in subjects affected by Klinefelter's syndrome, residual germ cells may be present in the testis and that 47,XXY spermatogonia are able to undergo and complete the spermatogenic process leading to mature spermatozoa. These data further suggest the need to evaluate the sex chromosome status of sperm from patients affected by Klinefelter's syndrome undergoing assisted reproductive techniques. SN - 0021-972X UR - https://www.unboundmedicine.com/medline/citation/10523034/Analysis_of_meiosis_in_intratesticular_germ_cells_from_subjects_affected_by_classic_Klinefelter's_syndrome_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jcem.84.10.6029 DB - PRIME DP - Unbound Medicine ER -