{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T21:08:42Z","timestamp":1766869722238,"version":"3.44.0"},"reference-count":22,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,12,19]]},"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:p>Gene mutations encoding transcription factors, including <jats:italic>SOX2<\/jats:italic>, have been associated with growth hormone deficiency (GHD) and abnormal pituitary development. Guidelines on GHD management in the transition period state that patients with genetic-based childhood-onset GHD can skip retesting due to a high likelihood of permanent GHD. We describe a case of septo-optic-dysplasia due to <jats:italic>SOX2<\/jats:italic> mutation characterised by childhood-onset GHD, which showed a normal somatotropic function at the transition period. This case raises the opportunity to retest for GHD during the transition period, even in patients with a known genetic cause, in order to avoid inappropriate GH treatment.<\/jats:p>","DOI":"10.1136\/bcr-2022-251897","type":"journal-article","created":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:16:07Z","timestamp":1672312567000},"page":"e251897","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Growth hormone deficiency in a case of septo-optic-dysplasia due to <i>SOX2<\/i> mutation: should we re-test patients during the transition period?"],"prefix":"10.1136","volume":"15","author":[{"given":"Valentina","family":"Gasco","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Diabetes and Metabolism, Department of Medical Science, University of Turin, Turin, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Matarazzo","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatrics, University of Turin, Turin, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"De Sanctis","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatrics, University of Turin, Turin, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ezio","family":"Ghigo","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Metabolism, Department of Medical Science, University of Turin, Turin, Piedmont, 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