Testicular function and fertility outcomes in males with CF: A multi center retrospective study of men with congenital bilateral absence of the vas deferens based on CFTR mutation status
Background: Modern cystic fibrosis (CF) treatments, particularly CFTR modulators, have allowed males with CF (MwCF) to live longer, healthier lives and pursue parenthood. Approximately 98% of MwCF have congenital bilateral absence of the vas deferens (CBAVD). While research shows MwCF experience spe...
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Elsevier
2025-06-01
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| Series: | Journal of Clinical & Translational Endocrinology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214623725000067 |
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| author | Rossella Cannarella Danielle Velez Leitner Marissa Weiss Sarah C. Vij |
| author_facet | Rossella Cannarella Danielle Velez Leitner Marissa Weiss Sarah C. Vij |
| author_sort | Rossella Cannarella |
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| description | Background: Modern cystic fibrosis (CF) treatments, particularly CFTR modulators, have allowed males with CF (MwCF) to live longer, healthier lives and pursue parenthood. Approximately 98% of MwCF have congenital bilateral absence of the vas deferens (CBAVD). While research shows MwCF experience spermatogenic dysfunction alongside obstructive azoospermia, understanding male reproductive health in MwCF remains limited. This study retrospectively examines testicular function and intracytoplasmic sperm injection outcomes of the partners of males with CBAVD, stratified by CF mutation status (CF, CF carriers, no known mutation). Subjects and Methods: This multicenter, retrospective study assessed sperm retrieval outcomes and testicular function in males with CBAVD. Participants were categorized into three groups: MwCF (Group 1), CFTR gene mutation carriers (CFTR carriers, Group 2), and CBAVD males without CFTR mutations (Group 3). We collected data on genetic testing, testicular hormone levels (FSH, LH, total testosterone), sperm retrieval methods, and reproductive outcomes. Statistical analysis was used to assess intergroup differences. Results: Thirty subjects were included (Group 1: 14, Group 2: 11, Group 3: 5). No significant differences in demographic, anthropometric, or reproductive characteristics were found across groups. Hormone levels (LH, FSH, and testosterone) were similar among groups. In Group 1, 42 % had elevated FSH levels. The prevalence of hypogonadism was 16.7 % in Group 1. Group 3 had a significantly lower fertilization rate (p < 0.01), but no differences were found in blastocyst formation, pregnancy, miscarriage, or live birth rates. Conclusions: Our data support the presence of primary spermatogenic dysfunction in some MwCF. However, reproductive outcomes were similar across all groups. |
| format | Article |
| id | doaj-art-0c4b4970ac0c4078975073d04cedcfd3 |
| institution | DOAJ |
| issn | 2214-6237 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Clinical & Translational Endocrinology |
| spelling | doaj-art-0c4b4970ac0c4078975073d04cedcfd32025-08-20T03:18:32ZengElsevierJournal of Clinical & Translational Endocrinology2214-62372025-06-014010038810.1016/j.jcte.2025.100388Testicular function and fertility outcomes in males with CF: A multi center retrospective study of men with congenital bilateral absence of the vas deferens based on CFTR mutation statusRossella Cannarella0Danielle Velez Leitner1Marissa Weiss2Sarah C. Vij3Department of Clinical and Experimental Medicine, University of Catania 95123 Catania, Italy; Department of Urology, Cleveland Clinic Foundation, Cleveland OH USA; Corresponding author at: Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123, Catania, Italy.Rutgers Robert Wood Johnson Medical School, 08901 New Brunswick, NJ, USADivision of Reproductive Endocrinology & Infertility, University of Pennsylvania 19104 Pennsylvania, PA, USADepartment of Surgery and Perioperative Care, University of Texas at Austin Dell Medical School, Austin TX USABackground: Modern cystic fibrosis (CF) treatments, particularly CFTR modulators, have allowed males with CF (MwCF) to live longer, healthier lives and pursue parenthood. Approximately 98% of MwCF have congenital bilateral absence of the vas deferens (CBAVD). While research shows MwCF experience spermatogenic dysfunction alongside obstructive azoospermia, understanding male reproductive health in MwCF remains limited. This study retrospectively examines testicular function and intracytoplasmic sperm injection outcomes of the partners of males with CBAVD, stratified by CF mutation status (CF, CF carriers, no known mutation). Subjects and Methods: This multicenter, retrospective study assessed sperm retrieval outcomes and testicular function in males with CBAVD. Participants were categorized into three groups: MwCF (Group 1), CFTR gene mutation carriers (CFTR carriers, Group 2), and CBAVD males without CFTR mutations (Group 3). We collected data on genetic testing, testicular hormone levels (FSH, LH, total testosterone), sperm retrieval methods, and reproductive outcomes. Statistical analysis was used to assess intergroup differences. Results: Thirty subjects were included (Group 1: 14, Group 2: 11, Group 3: 5). No significant differences in demographic, anthropometric, or reproductive characteristics were found across groups. Hormone levels (LH, FSH, and testosterone) were similar among groups. In Group 1, 42 % had elevated FSH levels. The prevalence of hypogonadism was 16.7 % in Group 1. Group 3 had a significantly lower fertilization rate (p < 0.01), but no differences were found in blastocyst formation, pregnancy, miscarriage, or live birth rates. Conclusions: Our data support the presence of primary spermatogenic dysfunction in some MwCF. However, reproductive outcomes were similar across all groups.http://www.sciencedirect.com/science/article/pii/S2214623725000067TestosteroneFSHHypogonadismSperm retrievalCystic FibrosisCBAVD |
| spellingShingle | Rossella Cannarella Danielle Velez Leitner Marissa Weiss Sarah C. Vij Testicular function and fertility outcomes in males with CF: A multi center retrospective study of men with congenital bilateral absence of the vas deferens based on CFTR mutation status Journal of Clinical & Translational Endocrinology Testosterone FSH Hypogonadism Sperm retrieval Cystic Fibrosis CBAVD |
| title | Testicular function and fertility outcomes in males with CF: A multi center retrospective study of men with congenital bilateral absence of the vas deferens based on CFTR mutation status |
| title_full | Testicular function and fertility outcomes in males with CF: A multi center retrospective study of men with congenital bilateral absence of the vas deferens based on CFTR mutation status |
| title_fullStr | Testicular function and fertility outcomes in males with CF: A multi center retrospective study of men with congenital bilateral absence of the vas deferens based on CFTR mutation status |
| title_full_unstemmed | Testicular function and fertility outcomes in males with CF: A multi center retrospective study of men with congenital bilateral absence of the vas deferens based on CFTR mutation status |
| title_short | Testicular function and fertility outcomes in males with CF: A multi center retrospective study of men with congenital bilateral absence of the vas deferens based on CFTR mutation status |
| title_sort | testicular function and fertility outcomes in males with cf a multi center retrospective study of men with congenital bilateral absence of the vas deferens based on cftr mutation status |
| topic | Testosterone FSH Hypogonadism Sperm retrieval Cystic Fibrosis CBAVD |
| url | http://www.sciencedirect.com/science/article/pii/S2214623725000067 |
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