Acute epididymo-orchitis: relevance of local classification and partner's follow-up

Banyra, Oleg; Nikitin, Oleg; Ventskivska, Iryna

doi:10.5173/ceju.2019.1973

Cited by 7 publications

(1 citation statement)

References 23 publications

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“…The ejaculated semen and urine were centrifuged and analyzed, together with some other tests were performed, included the determination of somatic karyotypes, screening of Y chromosome microdeletions, sex hormone testing, subsequent testicular biopsy, and testicular pathological analysis to identify the NOA phenotype in these patients. Participants with a history of cryptorchidism, testicular torsion, epididymitis, epididymo-orchitis, mumps orchitis and/or ascending sexually transmitted infections were not included in the study because of the causative relationships of such pathologies with obstructive/non-obstructive azoospermia [ 18 – 20 ]. The patients with abnormal somatic karyotypes and Y chromosome microdeletions were also excluded from this study.…”

Section: Methodsmentioning

confidence: 99%

Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia

Tang

Gao

et al. 2021

Reprod Biol Endocrinol

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Background Non-obstructive azoospermia (NOA) is the most severe form of male infertility; more than half of the NOA patients are idiopathic. Although many NOA risk genes have been detected, the genetic factors for NOA in majority of the patients are unknown. In addition, it is difficult to retrieve sperm from these patients despite using the microsurgical testicular sperm extraction (microTESE) method. Therefore, we conducted this genetic study to identify the potential genetic factors responsible for NOA and investigate the sperm retrieval rate of microTESE for genetically deficient NOA patients. Methods Semen analyses, sex hormone testing, and testicular biopsy were performed to categorize the patients with NOA. The chromosome karyotypes and Y chromosome microdeletion analyses were used to exclude general genetic factors. Whole exome sequencing and Sanger sequencing were performed to identify potential genetic variants in 51 patients with NOA. Hematoxylin and eosin staining (H&E) and anti-phosphorylated H2AX were used to assess the histopathology of spermatogenesis. Quantitative real time-polymerase chain reaction, western blotting, and immunofluorescence were performed to verify the effects of gene variation on expression. Results We performed whole exome sequencing in 51 NOA patients and identified homozygous helicase for meiosis 1(HFM1) variants (NM_001017975: c.3490C > T: p.Q1164X; c.3470G > A: p.C1157Y) in two patients (3.9%, 2/51). Histopathology of the testis showed that spermatogenesis was completely blocked at metaphase in these two patients carrying the HFM1 homozygous variants. In comparison with unaffected controls, we found a significant reduction in the levels of HFM1 mRNA and protein expression in the testicular tissues from these two patients. The patients were also subjected to microTESE treatment, but the sperms could not be retrieved. Conclusions This study identified novel homozygous variants of HFM1 that are responsible for spermatogenic failure and NOA, and microTESE did not aid in retrieving sperms from these patients.

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Section: Methodsmentioning

confidence: 99%