{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T15:30:19Z","timestamp":1790350219756,"version":"4.1.0"},"reference-count":12,"publisher":"Walter de Gruyter GmbH","issue":"12","license":[{"start":{"date-parts":[[2020,8,27]],"date-time":"2020-08-27T00:00:00Z","timestamp":1598486400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,12,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0029_abs_001_w2aab3b7b2b1b6b1aab1c16b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Variants in fibroblast growth factor receptor-1 (<jats:italic>FGFR1<\/jats:italic>) may either cause isolated hypogonadotropic hypogonadism (IHH) or Kallmann syndrome (KS). Although the relationship of genes classically involved in IHH with combined pituitary hormone deficiency (CPHD) is well established, variants in <jats:italic>FGFR1<\/jats:italic> have been presented as a rare cause of this phenotype recently.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0029_abs_002_w2aab3b7b2b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Herein, we report an adopted 16-year-old male presented with delayed puberty and micropenis. He had undergone surgery for bilateral undescended testes in childhood. He was normosmic, and the pituitary imaging was normal. However, hypogonadotropic hypogonadism and growth hormone deficiency were detected, associated with a heterozygous nonsense variant (c.1864 C&gt;T, p.R622X) in <jats:italic>FGFR1<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0029_abs_003_w2aab3b7b2b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>\n                     <jats:italic>FGFR1<\/jats:italic> variants are among the causes of IHH and KS, which are inherited in an autosomal dominant manner and can be associated with midline defects. It should also be kept in mind that CPHD may be associated with <jats:italic>FGFR1<\/jats:italic> variants in a subject with normal olfactory function.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0029","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T14:46:25Z","timestamp":1598625985000},"page":"1613-1615","source":"Crossref","is-referenced-by-count":13,"title":["A nonsense variant in <i>FGFR1<\/i>: a rare cause of combined pituitary hormone deficiency"],"prefix":"10.1515","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9368-8868","authenticated-orcid":false,"given":"\u0130brahim Mert","family":"Erba\u015f","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , Dokuz Eyl\u00fcl University Faculty of Medicine , \u0130zmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8048-8066","authenticated-orcid":false,"given":"Ahu","family":"Paket\u00e7i","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Dokuz Eyl\u00fcl University Faculty of Medicine , \u0130zmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0768-835X","authenticated-orcid":false,"given":"Sezer","family":"Acar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Dokuz Eyl\u00fcl University Faculty of Medicine , \u0130zmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6176-8986","authenticated-orcid":false,"given":"Leman Damla","family":"Kotan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , \u00c7ukurova University Faculty of Medicine , Adana , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8334-2422","authenticated-orcid":false,"given":"Korcan","family":"Demir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Dokuz Eyl\u00fcl University Faculty of Medicine , \u0130zmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1812-0321","authenticated-orcid":false,"given":"Ayhan","family":"Abac\u0131","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Dokuz Eyl\u00fcl University Faculty of Medicine , \u0130zmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8828-0892","authenticated-orcid":false,"given":"Ece","family":"B\u00f6ber","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Dokuz Eyl\u00fcl University Faculty of Medicine , \u0130zmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2020,8,27]]},"reference":[{"key":"2023040101094798902_j_jpem-2020-0029_ref_001_w2aab3b7b2b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"McCabe, MJ, Gaston-Massuet, C, Tziaferi, V, Gregory, LC, Alatzoglou, KS, Signore, M, et al. 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