{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:56:09Z","timestamp":1792695369717,"version":"4.5.0"},"reference-count":54,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:p>\n                    Fibroblast growth factor receptor 1 (\n                    <jats:italic toggle=\"yes\">FGFR1<\/jats:italic>\n                    ) mutations are associated with congenital hypogonadotropic hypogonadism (CHH) through inheritance or spontaneous occurrence. We detected\n                    <jats:italic toggle=\"yes\">FGFR1<\/jats:italic>\n                    mutations in a Chinese cohort of 210 CHH patients at Peking Union Medical College Hospital (Beijing, China) using next-generation and Sanger sequencing. We assessed missense variant pathogenicity using six bioinformatics tools and compared clinical features and treatment outcomes between inherited and de novo mutation groups. Among 19 patients with\n                    <jats:italic toggle=\"yes\">FGFR1<\/jats:italic>\n                    mutations, three were recurrent, and 16 were novel variants. Sixteen of the novel mutations were likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines, with the prevalent P366L variant. The majority of\n                    <jats:italic toggle=\"yes\">FGFR1<\/jats:italic>\n                    mutations was inherited (57.9%), with frameshift mutations exclusive to the de novo mutation group. The inherited mutation group had a lower incidence of cryptorchidism, short stature, and skeletal deformities. In the inherited mutation group, luteinizing hormone (LH) levels were 0.5 IU l\n                    <jats:sup>\u22121<\/jats:sup>\n                    , follicle-stimulating hormone (FSH) levels were 1.0 IU l\n                    <jats:sup>\u22121<\/jats:sup>\n                    , and testosterone levels were 1.3 nmol l\n                    <jats:sup>\u22121<\/jats:sup>\n                    . In contrast, the de novo group had LH levels of 0.2 IU l\n                    <jats:sup>\u22121<\/jats:sup>\n                    , FSH levels of 0.5 IU l\n                    <jats:sup>\u22121<\/jats:sup>\n                    , and testosterone levels of 0.9 nmol l\n                    <jats:sup>\u22121<\/jats:sup>\n                    , indicating milder hypothalamus\u2013pituitary\u2013gonadal axis (HPGA) functional deficiency in the inherited group. The inherited mutation group showed a tendency toward higher spermatogenesis rates. In conclusion, this study underscores the predominance of inherited\n                    <jats:italic toggle=\"yes\">FGFR1<\/jats:italic>\n                    mutations and their association with milder HPGA dysfunction compared to de novo mutations, contributing to our understanding of the genetic and clinical aspects of\n                    <jats:italic toggle=\"yes\">FGFR1<\/jats:italic>\n                    mutations.\n                  <\/jats:p>","DOI":"10.4103\/aja202366","type":"journal-article","created":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T12:15:21Z","timestamp":1704802521000},"page":"426-432","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations"],"prefix":"10.4103","volume":"26","author":[{"given":"Yu-Fan","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Lu","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Nie","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiang-Feng","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue-Yan","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, 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