{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T23:59:05Z","timestamp":1769039945368,"version":"3.49.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T00:00:00Z","timestamp":1768953600000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Reprod Medicine &amp; Biology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Case<\/jats:title>\n                    <jats:p>We herein report a rare case of a Japanese man diagnosed with cystic fibrosis (CF) following a workup for male infertility and recurrent pancreatitis and discuss the clinical and diagnostic implications in a population wherein CF is exceptionally rare. A 27\u2010year\u2010old Japanese man who presented with azoospermia underwent clinical evaluation, imaging, and genetic testing. The patient, who had a history of recurrent pancreatitis, was subsequently diagnosed with congenital bilateral absence of the vas deferens (CBAVD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Outcome<\/jats:title>\n                    <jats:p>Genetic analysis identified a homozygous c.1210\u201011\u2009T\u2009&gt;\u2009G variant in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This variant is classified as pathogenic and is associated with variable clinical phenotypes. Combined with the clinical symptoms, the patient was diagnosed with CF. Spermatozoa were successfully retrieved via testicular sperm extraction for future use in intracytoplasmic sperm injection. A literature review was also conducted to contextualize the genetic findings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We report a rare case of CF caused by a homozygous c.1210\u201011\u2009T\u2009&gt;\u2009G CFTR variant in a Japanese individual. This case highlights that CFTR\u2010RD, while rare, should be considered in Japanese patients presenting with CBAVD or idiopathic pancreatitis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/rmb2.70018","type":"journal-article","created":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T09:41:59Z","timestamp":1768988519000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Cystic Fibrosis in a Japanese Man With Congenital Bilateral Absence of the Vas Deferens and Recurrent Pancreatitis Caused by a Homozygous c.1210\u2010\n                    <scp>11\u2009T<\/scp>\n                    \u2009&gt;\u2009G Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene"],"prefix":"10.1002","volume":"25","author":[{"given":"Tomoki","family":"Saito","sequence":"first","affiliation":[{"name":"Department of Urology, Center for Reproductive Medicine Yokohama City University Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinnosuke","family":"Kuroda","sequence":"additional","affiliation":[{"name":"Department of Urology, Center for Reproductive Medicine Yokohama City University Medical Center  Yokohama Kanagawa Japan"},{"name":"Department of Urology and Renal Transplantation Yokohama City University Medical Center  Yokohama Kanagawa Japan"},{"name":"Department of Clinical Genetics Yokohama City University Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teppei","family":"Takeshima","sequence":"additional","affiliation":[{"name":"Department of Urology, Center for Reproductive Medicine Yokohama City University Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7049-3379","authenticated-orcid":false,"given":"Takashi","family":"Kawahara","sequence":"additional","affiliation":[{"name":"Department of Urology and Renal Transplantation Yokohama City University Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junichi","family":"Teranishi","sequence":"additional","affiliation":[{"name":"Department of Urology and Renal Transplantation Yokohama City University Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jurii","family":"Karibe","sequence":"additional","affiliation":[{"name":"Department of Urology, Center for Reproductive Medicine Yokohama City University Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuka","family":"Anzai","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Yokohama City University Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miki","family":"Tanoshima","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Yokohama City University Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhide","family":"Makiyama","sequence":"additional","affiliation":[{"name":"Department of Urology Yokohama City University Hospital  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Yumura","sequence":"additional","affiliation":[{"name":"Department of Urology, Center for Reproductive Medicine Yokohama City University Medical Center  Yokohama Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.21037\/tau.2020.04.05"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11060589"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1536-4801.1997.tb00648.x"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1806-37132013000300007"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580215"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/iju.70132"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eururo.2021.08.014"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/JU.0000000000001521"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/cimb47020119"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-023-01160-2"},{"issue":"4","key":"e_1_2_10_12_1","doi-asserted-by":"crossref","DOI":"10.3390\/genes11040401","article-title":"The Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy","volume":"11","author":"Farrell P. 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