two out of four sisters could clinically abort from unbalanced. Table I. Chromosome .... Apollo Hospitals Madras, 21 Greams Lane,. Off Greams Road, Madras 600 ...
Human Reproduction vol.12 no.10 pp.2337–2338, 1997
Letters to the Editor Mitotic chromosomal anomalies among infertile men Dear Sir, We would like to compliment Pandiyan et al. (1996) for their attempt to identify any clinical or seminal abnormalities as predictive factors of karyotype abnormalities. However, we wish to make a few comments on the basis of our previous studies (Bourrouillou et al., 1985, 1992), carried out on 2064 infertile subjects, classified as follows: 1 5 azoospermia; 2 5 oligozoospermia: ,53106 spermatozoa/ ml; 3 5 oligozoospermia: 5–103106 spermatozoa/ml; 4: oligozoospermia: 10–203106 spermatozoa/ml (see Table I). We observed a strong correlation between the rate of mitotic chromosomal anomalies and the severity of oligozoospermia with rates comparable to those already published in other series (Chandley, 1979; Reteif et al., 1984; Bourrouillou et al., 1985, 1992; Pandyian et al., 1996), which reinforces the relevance of karyotyping in subjects with severe oligozoospermia. It is true that these subjects’ families are seldom afflicted with reproductive abnormalities (only four cases in our series, and only in case of autosomal reciprocal translocation). Yet, the frequency of autosomal chromosomal alterations in oligospermic subjects is 12 times as high as in the general population. Thus, as we have already pointed out (Bourrouillou et al., 1985), early detection offers several points of interest: (i) medical and especially psychological interests of aetiology in these infertile subjects; (ii) genetic counselling and antenatal chromosomal diagnosis for the carrier of a chromosomal balanced structural abnormality for whom the new techniques of assisted reproduction treatment (more particularly intracytoplasmic sperm injection: ICSI) can offer new hope of procreation; (iii) genetic counselling for these subject’s families so as to avoid the birth of a chromosomally abnormal child (thus, two out of four sisters could clinically abort from unbalanced
Table I. Chromosome studies of infertile men with a sperm count of ,203106 spermatozoa/ml and familial history Azoospermia Oligospermia
Total
,5 3 106 5–10 3 106 ,20 3 106 No. subjects 621 518 Sexual chromosome anomalies X 82 8 Y 6 6 (1)a Autosomal chromosome anomalies Robertsonian 2 18 910a translocation Reciprocal 4 (1)b 8 (2)b (2)c translocation Others 4 Total 94 44 Percentage 15.2 8.5 aPrenatal
461
464
2064 90 16
4 8 (2)a
1
29
6 (1)b (1)c
1
19
(1)c
4 22 4.8
2 0.4
8 162 7.8
diagnosis.
bFamily record cPrenatal diagnosis
after family survey subsequent to discovery of anomaly.
© European Society for Human Reproduction and Embryology
offsprings diagnosed after prenatal investigations); (iv) the cost of karyotyping in France (FF 700) is negligible when compared with the cost of a disabled child on society and the human expense for families. All these reasons associated to the constancy of results on different series for comparable oligozoospermia rates, make us recommend systematic blood karyotyping on all infertile subjects whose only criterion is azoospermia or oligozoospermia (,103106 spermatozoa/ml).
References Bourrouillou, G., Dastugue, N. and Colombies, P. (1985) Chromosome studies in 952 infertile males with a sperm count below 10 million/ml. Hum. Genet., 71, 366–376. Bourrouillou, G., Bujan, L., Calvas, P. et al. (1992) Place et apport du caryotype en infertilite masculine. Prog. Urol., 2, 189–195. Chandley, A.C. (1979) The chromosomal basis of human infertility. Br. Med. Bull., 35, 181–186. Pandiyan, N. and Jequier A.M. (1996) Mitotic chromosomal anomalies among 1210 infertile men. Hum. Reprod., 11, 2604–2608. Retief, A.E., Van Zyl, J.A. and Menkveld, R. (1984) Chromosome studies in 496 infertile males with a sperm count below 10 million/ml. Hum. Genet., 66, 162–164.
Georges Bourrouillou, Patrick Calvas Service de Genetique Medicale, Hoˆpital Purpan, 31059 Toulouse Cedex Louis Bujan, Roger Mieusset, Arlette Mansat, Francis Pontonnier Centre de Sterilite Masculine, CECOS Midi-Pyrenees, Hoˆpital La Grave, 31052 Toulouse Cedex, France
Dear Sir, We thank Bourrouillou et al. for their interest in our article and their valuable comments. We fully agree with them about the need for routine karyotyping of all men with azoospermia, particularly non-obstructive azoospermia, as these are the candidates who had no hope of fatherhood until the introduction of intracytoplasmic sperm injection (ICSI), and who certainly have a higher risk of chromosomal anomaly. However, in men with obstructive azoospermia and in men with vasal aplasia there is either no chromosomal anomaly or there is a gene defect in the CFTR gene which cannot be picked up by routine karyotype. With oligozoospermia the story is different; we are unable to define any concentration below which it would be worthwhile doing a karyotype except in men with occasional spermatozoa in the ejaculate. The sperm concentration by nature being widely variable, it may not be possible to take 53106 spermatozoa/ml as the cut-off point for routine karyotype. In addition, karyotyping some of these men may require fluorescent in-situ hybridization (FISH)/polymerase chain reaction (PCR) to identify Y chromosome defects such as DAZ (deleted in azoospermia). Tertiary level infertility care in government hospitals is non-existent in India and insurance 2337
Letters to the Editor
companies do not reimburse cost of infertility treatment. Therefore, it may not be possible to offer routine karyotyping to all men with oligozoospermia. The author is also aware that many of the leading private infertility clinics worldwide do not do routine karyotyping of all men whose spouses are undergoing ICSI for male factor infertility. Until such time that we have enough/more data to indicate that routine karyotyping of infertile men is cost effective and would help in reducing the rate of abnormal offspring, we may have to continue doing it only in selected patients. The problem of selecting these men remains. We appreciate the useful comment from Bourrouillou et al. Reference Bourrouillou, G., Calvas, P., Bujan, L. et al. (1997) Mitotic chromosomal anomalies among infertile men (Letter). Hum. Reprod., 12, 2337.
N.Pandiyan Apollo Hospitals Madras, 21 Greams Lane, Off Greams Road, Madras 600 006, India
2338
