RESULTS OF EXAMINATION OF MICRODELETIONS IN THE AZF(YQ) REGION IN MEN WITH REPRODUCTIVE DISORDERS

Česká verzia

Authors: MUDr. Renata Gaillyová; Ph.D. RNDr. Iveta Valášková ^{1 1}; MUDr. Rastislav Beharka ²; prof. MUDr. Dalibor Pacík; CSc. ²; doc. MUDr. Igor Crha; CSc. ³; prof. MUDr. Pavel Ventruba, DrSc. ³
Authors place of work: ‑Oddělení lékařské genetiky LF MU a FN Brno Černopolní 9, 61 00 Brno e-mail: gaillyova@fnbrno. cz ¹; Urologická klinika LF MU a FN Brno ²; ‑Gynekologicko-porodnická klinika LF MU a FN Brno ³
Published in the journal: Urol List 2007; 5(3): 18-21

Summary

The male factor of infertility is the cause of reproductive disorders in approximately 50 % couples, and there is about 50 % of cases in which the cause of male infertility is unknown.

Microdeletions in the AZF (Yp) regions occur in about 4 – 5 % of men with oligospermia and in about 15 – 18 % of men with azoospermia, in approximately 10 % of men with reproductive disorders.

In couples with reproductive failure, genetic counselling and chromosomal analysis in both partners is recommended. Examination of microdeletions in the AZF regions were performed in men with severe oligo or azoospermia.

Between 2000 and 2006, we performed this analysis in 594 men with pathological sperm count and we found microdeletions in 21 men – 3.54 % (range 1.34 – 5.43 %).

Microdeletion has been mostly found in patients with azoospermia, in only 3 men has been found severe oligospermia with maximal sperm count 1.2 million/ml).

Based on our own experience and on relevant literature, we defined more strict indication criteria for the analysis of microdeletions of AZF regions in men. We found positive results only in men with sperm count of less then 2 milions in ml.

Genetic counselling and genetic analysis are a very important component of assisted reproduction. Information about the risk of transmission of a genetic disorders upon the child should be provided before the methods of assisted reproduction are used.

Key words:
reproductive disorders, male factor, microdeletions AZFa,b,c regions Yq, genetic counselling

Zdroje

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