Studija slučaja
https://doi.org/10.21860/medflum2026_349327
The Complementarity of Molecular-genetic and Cytogenetic Techniques in the Diagnosis of Male Infertility: Report of Two Cases
Nada Starčević Čizmarević
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
*
Jadranka Vraneković
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
Ivan Vukelić
; Klinički bolnički centar Rijeka, Klinika za urologiju, Rijeka, Hrvatska
Antun Gršković
; Klinički bolnički centar Rijeka, Klinika za urologiju, Rijeka, Hrvatska
Tea Mladenić
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
Anita Barišić
; Klinički bolnički centar Rijeka, Klinika za ginekologiju i porodništvo, Rijeka, Hrvatska
Alena Buretić-Tomljanović
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
* Dopisni autor.
Sažetak
Aim: A practice point toward the implementation of the combined molecular-genetic and cytogenetic analyses in the diagnosis of male infertility. Case report: Two cases of azoospermia and male phenotype were described. The first diagnostic methods included analysis of chromosome Yq11 microdeletions. Complete AZFabc and AZFc deletions were found, respectively. Subsequent cytogenetic and molecular cytogenetic analyses confirmed structural chromosomal aberrations: 1) karyotype 46,XX with an unbalanced reciprocal translocation of the SRY region to chromosome X, and 2) terminal deletion Yq11, with loss of the distal azoospermia region (AZFc). Conclusions: The diagnosis of male infertility associated with azoospermia should include analysis of chromosome Yq11 microdeletions, followed by cytogenetic analysis. The loss of the complete AZFabc region may be associated with a karyotype 46,XX, male phenotype (de la Chapelle syndrome) and numerous health risks. The loss of the distal, heterochromatic portion of Yq (Yq12) may predispose to chromosome Y instability or loss during spermatogenesis, which might contribute to mosaicism in the progeny born after assisted reproduction procedures.
Ključne riječi
azoospermia; genes, sry; infertility, male; sex chromosome aberrations; translocation, genetic; y chromosome microdeletions
Hrčak ID:
349327
URI
Datum izdavanja:
1.9.2026.
Posjeta: 0 *