Az azoospermia hátterében meghúzódó kromoszómaelváltozások

Translated title of the contribution: Chromosomal disorders in the background of the azoospermia

Orsolya Bellovits, András Rusz, I. Romics, Erika Csonka, Gyula Hadlaczky, Györgyi Bujdosó, P. Sótónyi

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Introduction: Nowadays more and more couples face the fact that they cannot have babies in spite of many years of trying. The male factor can be identified in about half of these cases. Aim: The aim of this study was to analyse chromosomal alterations in patients with azoospermia. These patients may be candidates for testicular sperm retrieval and intracytoplasmatic sperm injection. Materials and Methods: Preoperative evaluation included routine andrological investigation with 2 semen analysis, ultrasound, hormonal and genetic examination. Traditional histological examination and embryological diagnostic of tissue samples was performed. Cryopreservation of retrieved testicular tissue was also done. Between January 2001 and June 2005 73 biopsies were performed in 71 patients for testicular sperm extraction. In order to obtain an exact diagnosis, the traditional cytogenetic methods and fluorescence in situ hybridization analyses were performed in combination with molecular genetic techniques. Patients were offered to participate in the assisted reproduction programme on the base of their genetic results. Results: In this study, the most characteristic cases were numerical deviations, such as 47,XXY (2 cases), mosaic 47,XXY/49,XXXXY (1 case), 47,XYY (1 case) and mosaic 46,XY/45,X (1 case) karyotypes. Non-obstructive azoospermia was diagnosed in 53 patients (79%). Conclusions: Authors emphasised the importance of cyto- and molecular examinations in cases of genetical disorders. The results provide a chance for patients to be spared from long-drawn moreover psychological burdening examinations. In addition the costs of different clinical intervention could be saved too.

Original languageHungarian
Pages (from-to)531-535
Number of pages5
JournalOrvosi Hetilap
Volume147
Issue number12
Publication statusPublished - Mar 26 2006

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Chromosome Disorders
Azoospermia
Spermatozoa
Sperm Retrieval
Genetic Techniques
Semen Analysis
Cryopreservation
Fluorescence In Situ Hybridization
Karyotype
Cytogenetics
Reproduction
Molecular Biology
Psychology
Biopsy
Costs and Cost Analysis
Injections

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Bellovits, O., Rusz, A., Romics, I., Csonka, E., Hadlaczky, G., Bujdosó, G., & Sótónyi, P. (2006). Az azoospermia hátterében meghúzódó kromoszómaelváltozások. Orvosi Hetilap, 147(12), 531-535.

Az azoospermia hátterében meghúzódó kromoszómaelváltozások. / Bellovits, Orsolya; Rusz, András; Romics, I.; Csonka, Erika; Hadlaczky, Gyula; Bujdosó, Györgyi; Sótónyi, P.

In: Orvosi Hetilap, Vol. 147, No. 12, 26.03.2006, p. 531-535.

Research output: Contribution to journalArticle

Bellovits, O, Rusz, A, Romics, I, Csonka, E, Hadlaczky, G, Bujdosó, G & Sótónyi, P 2006, 'Az azoospermia hátterében meghúzódó kromoszómaelváltozások', Orvosi Hetilap, vol. 147, no. 12, pp. 531-535.
Bellovits O, Rusz A, Romics I, Csonka E, Hadlaczky G, Bujdosó G et al. Az azoospermia hátterében meghúzódó kromoszómaelváltozások. Orvosi Hetilap. 2006 Mar 26;147(12):531-535.
Bellovits, Orsolya ; Rusz, András ; Romics, I. ; Csonka, Erika ; Hadlaczky, Gyula ; Bujdosó, Györgyi ; Sótónyi, P. / Az azoospermia hátterében meghúzódó kromoszómaelváltozások. In: Orvosi Hetilap. 2006 ; Vol. 147, No. 12. pp. 531-535.
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AU - Rusz, András

AU - Romics, I.

AU - Csonka, Erika

AU - Hadlaczky, Gyula

AU - Bujdosó, Györgyi

AU - Sótónyi, P.

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AB - Introduction: Nowadays more and more couples face the fact that they cannot have babies in spite of many years of trying. The male factor can be identified in about half of these cases. Aim: The aim of this study was to analyse chromosomal alterations in patients with azoospermia. These patients may be candidates for testicular sperm retrieval and intracytoplasmatic sperm injection. Materials and Methods: Preoperative evaluation included routine andrological investigation with 2 semen analysis, ultrasound, hormonal and genetic examination. Traditional histological examination and embryological diagnostic of tissue samples was performed. Cryopreservation of retrieved testicular tissue was also done. Between January 2001 and June 2005 73 biopsies were performed in 71 patients for testicular sperm extraction. In order to obtain an exact diagnosis, the traditional cytogenetic methods and fluorescence in situ hybridization analyses were performed in combination with molecular genetic techniques. Patients were offered to participate in the assisted reproduction programme on the base of their genetic results. Results: In this study, the most characteristic cases were numerical deviations, such as 47,XXY (2 cases), mosaic 47,XXY/49,XXXXY (1 case), 47,XYY (1 case) and mosaic 46,XY/45,X (1 case) karyotypes. Non-obstructive azoospermia was diagnosed in 53 patients (79%). Conclusions: Authors emphasised the importance of cyto- and molecular examinations in cases of genetical disorders. The results provide a chance for patients to be spared from long-drawn moreover psychological burdening examinations. In addition the costs of different clinical intervention could be saved too.

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