{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T22:35:36Z","timestamp":1780094136305,"version":"3.54.0"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,3,7]],"date-time":"2025-03-07T00:00:00Z","timestamp":1741305600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,3,7]],"date-time":"2025-03-07T00:00:00Z","timestamp":1741305600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2023A1515010515"],"award-info":[{"award-number":["2023A1515010515"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrology"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Isolated obstructive azoospermia (iOA) is classified as a type of obstructive azoospermia (OA) where cases remain \u201cunexplained\u201d even after excluding congenital absence of the vas deferens and external factors. This study aimed to determine if certain semen characteristics in iOA patients could indicate underlying genetic variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      To investigate\n                      <jats:italic>CFTR<\/jats:italic>\n                      and\n                      <jats:italic>ADGRG2<\/jats:italic>\n                      gene variants in patients with idiopathic obstructive azoospermia (iOA) and identify semen parameters associated with these variants to guide genetic testing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and methods<\/jats:title>\n                    <jats:p>\n                      Seventy\u2010six iOA patients were divided into three groups based on variant status: Group I, patients with at least two\n                      <jats:italic>CFTR<\/jats:italic>\n                      variants or a hemizygous\n                      <jats:italic>ADGRG2<\/jats:italic>\n                      variant; Group II, patients with one\n                      <jats:italic>CFTR<\/jats:italic>\n                      variant and no\n                      <jats:italic>ADGRG2<\/jats:italic>\n                      variants; Group III, patients without any\n                      <jats:italic>CFTR<\/jats:italic>\n                      or\n                      <jats:italic>ADGRG2<\/jats:italic>\n                      variants. Associations between genotypes and clinical parameters were analyzed using univariate and multivariate logistic regression to identify potential biomarkers.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Result(s)<\/jats:title>\n                    <jats:p>\n                      Thirty\u2010six of the 76 patients (47.37%) carried one or more\n                      <jats:italic>CFTR<\/jats:italic>\n                      or\n                      <jats:italic>ADGRG2<\/jats:italic>\n                      variants. Twenty distinct variants, including three novel variants (c.1851A\u00a0&gt;\u00a0T and c.2426C\u00a0&gt;\u00a0T in\n                      <jats:italic>CFTR<\/jats:italic>\n                      , c.1105G\u00a0&gt;\u00a0A in\n                      <jats:italic>ADGRG2<\/jats:italic>\n                      ), were identified. The most common variant was c.1210\u201012T[5] (5T) (18.42%), followed by c.1666A\u00a0&gt;\u00a0G (4.61%) and c.4056G\u00a0&gt;\u00a0C (3.95%). Group I patients had significantly lower ejaculate volume, pH, and fructose levels compared with Groups II and III. The combined area under the curve (AUC) for fructose, age, pH, and volume was 0.979, with fructose alone achieving an AUC of 0.952. Diagnostic efficacy for variant detection was highest (88.1%) at a fructose cutoff of 0.591\u00a0\u00b5mol\/ejaculate, with a sensitivity of 0.958, a specificity of 0.923, a positive predictive value (PPV) of 0.895 and a negative predictive value (NPV) of 0.877.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion and conclusion<\/jats:title>\n                    <jats:p>\n                      Approximately 47% of iOA patients carry\n                      <jats:italic>CFTR<\/jats:italic>\n                      and\n                      <jats:italic>ADGRG2<\/jats:italic>\n                      variants, characterized by significantly lower semen volume, fructose, and pH. Fructose was identified as an independent predictor of\n                      <jats:italic>CFTR<\/jats:italic>\n                      and\n                      <jats:italic>ADGRG2<\/jats:italic>\n                      variants, highlighting its potential utility in guiding genetic testing and clinical decision\u2010making in iOA patients.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/andr.70014","type":"journal-article","created":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T17:20:23Z","timestamp":1741713623000},"page":"2101-2109","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Fructose as a key biomarker for prognostication in idiopathic obstructive azoospermia associated with\n                    <i>CFTR<\/i>\n                    and\n                    <i>ADGRG2<\/i>\n                    gene variants"],"prefix":"10.1111","volume":"13","author":[{"given":"Zhongkun","family":"Liang","sequence":"first","affiliation":[{"name":"IVF Center, Department of Obstetrics and Gynecology Sun Yat\u2010sen Memorial Hospital, Sun Yat\u2010sen University  Guangzhou China"},{"name":"Guangdong Provincial Clinical Research Center for Obstetrical and Gynecological Diseases  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-9243-2365","authenticated-orcid":false,"given":"Tuerxunayi","family":"Yalikun","sequence":"additional","affiliation":[{"name":"IVF Center The First People's Hospital of Kashi Prefecture  Kashi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohui","family":"Ji","sequence":"additional","affiliation":[{"name":"IVF Center, Department of Obstetrics and Gynecology Sun Yat\u2010sen Memorial Hospital, Sun Yat\u2010sen University  Guangzhou China"},{"name":"Guangdong Provincial Clinical Research 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