{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T21:26:39Z","timestamp":1788989199026,"version":"build-2803163510"},"reference-count":67,"publisher":"The Endocrine Society","issue":"6","license":[{"start":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:00:00Z","timestamp":1778198400000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministry of Health of the Czech Republic","doi-asserted-by":"publisher","award":["NU22J-07-00014"],"award-info":[{"award-number":["NU22J-07-00014"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministry of Health of the Czech Republic","doi-asserted-by":"publisher","award":["NW25-07-00164)"],"award-info":[{"award-number":["NW25-07-00164)"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Motol University Hospital Prague"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Growth hormone (GH) stimulation tests have limited reliability and may lead to false-positive results.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This work aimed to evaluate genetic causes of short stature in children clinically diagnosed with GH deficiency (GHD) and assess genotype-phenotype correlations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective single-center study was conducted including 233 children with clinically diagnosed primary GHD treated with GH for 5 years or more. Genetic testing was performed using a targeted next-generation sequencing panel of 398 growth-associated genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A genetic cause was identified in 39 of 233 (17%) children. Only 13 of 39 (33%) findings confirmed GHD (genes CHD7, GH1, GHSR, GLI2, GNAO1, KMT2D, OTX2 [3], POU1F1, PROP1, SALL4, TBX3). The remaining 26 of 39 (67%) revealed alternative etiologies of growth failure: RASopathies (13\/39; genes NF1 [2], PTPN11 [7], RAF1, SOS1 [2], SPRED1), growth plate disorders (8\/39; genes ACAN, COL2A1, EXT2, FGFR3 [2], NPR2 [3]), and miscellaneous conditions (5\/39; genes CDC42, LMNA, HMGA2, PMM2, RAI1). Genetically confirmed GHD patients presented with lower peak GH (median 1.8 vs 4.8 [alternative genetic etiology] and 5.9\u2005\u03bcg\/L [no genetic etiology]; P = .017), more frequent combined pituitary hormone deficiency (46% vs 4% and 12%; P = .001) and magnetic resonance imaging midbrain abnormalities (73% vs 14% vs 32%; P = .003). Conversely, the alternative etiology group demonstrated the least robust 5-year GH therapy response (median height gain 1.4 vs 2.3 [GHD group] and 1.8 [no genetic etiology]; P = .001).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The population of children clinically diagnosed with GHD is genetically heterogeneous. A statistically significant proportion harbors defects in RAS-MAPK signaling or growth plate disorders, highlighting the limitations of current methods of GHD diagnostics.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/jendso\/bvag106","type":"journal-article","created":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T11:28:50Z","timestamp":1777980530000},"source":"Crossref","is-referenced-by-count":2,"title":["Beyond GH stimulation tests: genetic heterogeneity and treatment response in children with diagnosed GH deficiency"],"prefix":"10.1210","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3382-3508","authenticated-orcid":false,"given":"Lukas","family":"Plachy","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Motol and Homolka University Hospital , Prague 15000 ,","place":["Czech Republic"]},{"name":"Department of Pediatrics, Second Faculty of Medicine, Charles University , Prague 15000 ,","place":["Czech 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Anne","family":"Amaratunga","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Motol and Homolka University Hospital , Prague 15000 ,","place":["Czech Republic"]},{"name":"Department of Pediatrics, Second Faculty of Medicine, Charles University , Prague 15000 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matvei","family":"Slavenko","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Motol and Homolka University Hospital , Prague 15000 ,","place":["Czech Republic"]},{"name":"Department of Pediatrics, Second Faculty of Medicine, Charles University , Prague 15000 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Drabova","sequence":"additional","affiliation":[{"name":"Institute of Biology and Medical Genetics, Motol and Homolka University Hospital , Prague 15000 ,","place":["Czech 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