Comprehensive semen examination in patients with pancreatic-sufficient and pancreatic-insufficient cystic fibrosis
Sedova, Anna O; Shtaut, Maria I; Bragina, Elizaveta E; Sorokina, Tatyana M; Shmarina, Galina V; Andreeva, Marina V; Kurilo, Lyubov F; Krasovskiy, Stanislav A; Polyakov, Aleksander V; Chernykh, Vyacheslav B
Research Centre for Medical Genetics, Moskvorechie Street 1, Moscow 115522, Russia
Correspondence: Dr. VB Chernykh (email@example.com)
Originally published: March 03, 2023 Received: May 21, 2022 Accepted: December 15, 2022
We examined a cohort of 93 cystic fibrosis (CF) male patients who were pancreatic-sufficient (PS-CF; n=40) or pancreatic-insufficient (PI-CF; n = 53). Complex semen examination was performed, including standard semen analysis, quantitative karyological analysis (QKA) of immature germ cells (IGCs), transmission electronic microscopy (TEM), biochemical analysis, and sperm DNA fragmentation by terminal deoxynucleotidyl transferase-mediated dUTP nickend labeling (TUNEL) assay. Azoospermia was diagnosed in 83 (89.2%) patients. The other 10 (10.8%) patients were found to be nonazoospermic and showed various spermatological diagnoses (asthenozoospermia, n = 2; asthenoteratozoospermia, n = 3; oligoasthenozoospermia, n = 1; oligoasthenoteratozoospermia, n = 3; and normozoospermia, n = 1) with no specific morphological abnormalities. Oligospermia was detected in 89.2% azoospermic and 30.0% nonazoospermic patients. Low seminal pH (<7.0) was found in 74 (89.2%) of 83 azoospermic patients. Moderate leukocytospermia (2.0 × 106–2.2 × 106 ml−1) was revealed in 2.4% azoospermic and 40.0% nonazoospermic semen samples. The signs of partial meiotic arrest at prophase I were found in 4 of 6 nonazoospermic patients examined by QKA of IGCs. The content of fructose and citrate was low in oligospermic and normal in nonoligospermic semen samples. An increased percentage (>30%) of spermatozoa with noncondensed (“immature”) chromatin was revealed in 2 of 6 nonazoospermic semen samples analyzed by TEM.
Keywords: congenital bilateral agenesia/aplasia of vas deferens; cystic fibrosis; cystic fibrosis transmembrane conductance regulator
gene; semen; spermatozoa