Ploidy of spermatogenic cells of men with non-mosaic Klinefelter’s syndrome as measured by a computerized cell scanning system

Abstract

Purpose This study aims to characterize the origin of testicular post-meiotic cells in non-mosaic Klinefelter's syndrome (KS). Methods The study included testicular tissue specimens from 11 non-mosaic KS patients, with (6 positive) and without (5 negative) spermatozoa presence. The obtained testicular cells were affixed and stained for morphology followed by fluorescence in situ hybridization (FISH) for centromeric probes X, Y, and 18. We used a computerized automated cell scanning system that enables simultaneous viewing of morphology and FISH in the same cell. Results A total of 12,387 cells from the positive cases, 11,991 cells from the negative cases, and 1,711 cells from the controls were analyzed. The majority of spermatogonia were 47, XXY in both the positive and negative KS cases (88.9±4.76 % and 90.6±4.58 %) as were primary spermatocytes (76.8±8.14 % and 79.6±7.30 %). The respective rates of secondary spermatocytes and post-meiotic cells (round, elongating spermatids and sperm cells) were 1.1±1.39 % in the positive cases, 2.9±3.33 % in the negative cases, compared to 67.6±6.22 % in the controls (P<0.02). Pairing of both 18 and XY homologous chromosomes in 46,XY primary spermatocytes was 2.5 ±2.31 % and 3.4±2.39 %, respectively, compared to 19.8± 8.95 % in the control group (P<0.02) and in 47,XXY primary spermatocytes in 2.4±3.8 % in the positive group and 3.2± 2.26 % in the negative group. Conclusions This study presents data to indicate that the majority of primary spermatocytes in the testes of non-mosaic KS patients are 47,XXY and could possibly develop into postmeiotic cells.

At what age should we attempt to retrieve sperm from males with Klinefelter syndrome

“…This most likely of scenarios also explains why the reported babies born have been 46,XY or 46,XX, confirming studies demonstrating that the preponderance of spermatozoa subjected to chromosomal analysis are indeed haploid. If 47,XXY spermatogonia cannot complete the meiotic cascade [although some argue they might rarely be able to (18)] and, therefore, will not be the ancestors of any sperm found in the testis at any age (adolescent to adult), is there any reason to "cryopreserve" them by performing TESE at an early age, or at least well before the KS male is ready to have a child (19)? At the present moment, there is no in-vitro technology or culture system that can drive the expulsion of that extra X chromosome from all or even a fraction of the 47,XXY spermatogonia and then, in addition, assist them in manufacturing functional, genetically safe haploid gametes.…”

Etiologic and pathogenetic aspects of non-mosaic form of Klinefelter syndrome

“…Согласно одним исследованиям [74][75][76][77][78], сперматогонии 47,XXY потенциально способны пройти все стадии мейоза, давая при этом клетки с анеуплоидией гоносом и нормальные гаплоидные сперматозоиды (см. рисунок, а).…”