Cytogenetic analysis in males with azoospermia

Abstract

Background: Male infertility is a heterogeneous disorder with a substantial genetic basis. The most common genetic causes of male infertility are chromosomal anomalies and microdeletions of the azoospermia factor (AZF). The frequency of these chromosomal anomalies increases in azoospermic men. Purpose: To assess chromosomal variations in males with azoospermia in order to confirm the importance of the cytogenetic testing for diagnosis and treatment assessment. Methods: We performed cytogenetic analysis in a group of 128 infertile men with azoospermia from the Republic of Moldova during 2013-2018 period.  Karyotyping was performed on peripheral blood lymphocytes according to standard methods G-banding of metaphase chromosomes. For reporting the results, the 2016 International System of Cytogenetic Nomenclature was used. Results: 128 men with azoospermia were cytogenetically investigated in 2013- 2018 at the department of the National Center for Reproductive Health and Medical Genetics (Table 1). We identified that from 128 azoospermic cases, 80 (62%) had normal karyotype (46,XY) and 48 (38%) showed variations in the number or structure of chromosomes. 38 patients (30%) showed variations in the X or Y sex chromosomes, and 10 patients (8%) had variations in the autosomal chromosomes (Figure 4, Table 1, 2, 3). Conclusions: Cytogenetic investigations for men with severely affected spermiogram is important for the etiologic diagnosis of male infertility with clinical relevant in treatment, as well as assessment and prognosis. The occurrence (38%) of chromosomal variations among infertile males strongly suggests genetic testing prior to ART.