Azoospermia with known causes – a retrospective assessment of clinical data within a 1 year period

Abstract

Introduction. Azoospermia, the absence of sperm in ejaculated semen, is the most severe form of male-factor infertility and is present in approximately 5% of all investigated infertile couples. This condition can be classified as non-obstructive azoospermia (NOA, associated with spermatogenesis failure), and obstructive azoospermia (OA, characterized by an obstruction in the seminal tract and normal spermatogenesis). Whereas NOA accounts for 60% of azoospermic patients, OA accounts for around 40%. A precise diagnosis of azoospermia and systematic evaluation of the patient to establish the disease aetiology are needed to guideappropriate management options and to determine the associated cost benefits, risks and prognosis for treatment success. Aim of the study. Assessment of clinical data of azoospermia males evaluated during 2019 to show aetiology factors distribution within included patients. Materials and methods.. A retrospective record review of data collected from 46 azoospermic males was done. The mean age of infertility patients was 31.3 ± 5.2 years. All participants were examined using a standardized andrology workup, accompanied by a structured medical interview. The hormonal analysis included serum FSH, LH and testosterone and genetic assessment (AZF, CFRT and Karyotyping) was done. The diagnosis of azoospermia it was confirmed by centrifugation of a semen specimen for 15 min at room temperature with highpowered microscopic examination of the pellet and a centrifugation speed of at least 3,000 rot/min. TESE outcome and histology investigation of biopsies it was used for final distribution of the patients. Results. 21 (45.65%) patients with normal testis size, normal hormonal profile and no genetic defects were diagnosed. In this group, TESE outcome it was successful for 16 (76.19%) patients with normal histology exam, 3 (6.52%) patients with unsuccessful TESE outcome and meiotic arrest on histological results, and 2 (4.34%) patients with unsuccessful TESE outcome and no data on histologic phenotype. 17 (36.95%) patients with bilateral or unilateral testis atrophy, abnormal hormonal profile and no genetic defects. In this group just for 5 (29.41%) patients it was performed TESE and all 5 patients were found with negative sperm extraction and histologic phenotype – mixed atrophy and Sertoli cell-only syndrome. In the same group 10 (21.73%) patients with the history of Mumps orchitis in the post-pubertal period, bilateral testis atrophy and hypergonadotropic hypogonadism. 8 (17.39%) patients with genetic defects: 4 (8.69%) with Klinefelter syndrome, 3 (6.52%) with AZF deletion (1 patient with AZFa deletion and 2 patients with AZFbc) and one patient with CFTR mutation. Conclusions. Patients with bilateral or unilateral testis atrophy and abnormal hormonal profile should be karyotyped and screened for Y chromosome microdeletions; these analyses lead to a diagnosis in more than 15% of cases and contraindicate a testicular biopsy when a full AZFa and/or AZFb microdeletion is present. Percentage of patients with the history of Mumps orchitis is much higher than in other populations because of mumps epidemic parotitis in 2008.