{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T15:27:21Z","timestamp":1779377241458,"version":"3.53.1"},"reference-count":23,"publisher":"The Endocrine Society","issue":"5","license":[{"start":{"date-parts":[[2021,12,18]],"date-time":"2021-12-18T00:00:00Z","timestamp":1639785600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100004191","name":"Novo Nordisk Inc","doi-asserted-by":"publisher","award":["ISS 001152"],"award-info":[{"award-number":["ISS 001152"]}],"id":[{"id":"10.13039\/501100004191","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Patients with aggrecan (ACAN) deficiency present with dominantly inherited short stature, often with advanced skeletal maturation and premature growth cessation. There is a paucity of information on the effects of growth-promoting interventions.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>The aim of this study was to evaluate the efficacy and safety of recombinant human growth hormone (rhGH) therapy on linear growth in children with ACAN deficiency.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Open-label, single-arm, prospective study at Cincinnati Children\u2019s Hospital Medical Center. Ten treatment-na\u00efve patients were recruited. Inclusion criteria were a confirmed heterozygous mutation in ACAN, age \u22652 years, prepubertal, bone age (BA) \u2265chronological age (CA), and normal insulin-like growth factor I concentration. Treatment was with rhGH (50 \u00b5g\/kg\/day) over 1 year. Main outcomes measured were height velocity (HV) and change in (\u0394) height SD score (HtSDS).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Ten patients (6 females) were enrolled with median CA of 5.6 years (range 2.4-9.7). Baseline median HtSDS was \u20132.5 (range \u20134.3 to \u20131.1). Median baseline BA was 6.9 years (range 2.5-10.0), with median BA\/CA of 1.2 (range 0.9-1.5). Median pretreatment HV was 5.2 cm\/year (range 3.8-7.1), increased to 8.3 cm\/year (range 7.3-11.2) after 1 year of therapy (P\u2005=\u2005.004). Median \u0394HtSDS after 1 year was +0.62 (range +0.35 to +1.39) (P\u2005=\u2005.002). Skeletal maturation did not advance inappropriately (median \u0394BA\/CA \u20130.1, P\u2005=\u2005.09). No adverse events related to rhGH were observed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Treatment with rhGH improved linear growth in a cohort of patients with short stature due to ACAN deficiency.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgab904","type":"journal-article","created":{"date-parts":[[2021,12,18]],"date-time":"2021-12-18T22:44:39Z","timestamp":1639867479000},"page":"e2103-e2109","source":"Crossref","is-referenced-by-count":12,"title":["Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response"],"prefix":"10.1210","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7101-2357","authenticated-orcid":false,"given":"Gajanthan","family":"Muthuvel","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Cincinnati Children\u2019s Hospital Medical Center , Cincinnati, OH 45229 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4890-0262","authenticated-orcid":false,"given":"Andrew","family":"Dauber","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Children\u2019s National Hospital , Washington, DC 20010 , USA"},{"name":"Department of Pediatrics, George Washington University School of Medicine and Health Sciences , Washington, DC 20037 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eirene","family":"Alexandrou","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, The University of Iowa Stead Family Children\u2019s Hospital , Iowa City, IA 52242 , USA"},{"name":"Department of Pediatrics, University of Iowa , Iowa City, IA 52242 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah","family":"Tyzinski","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Cincinnati Children\u2019s Hospital Medical Center , Cincinnati, OH 45229 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Andrew","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Children\u2019s National Hospital , Washington, DC 20010 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0517-9049","authenticated-orcid":false,"given":"Vivian","family":"Hwa","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Cincinnati Children\u2019s Hospital Medical Center , Cincinnati, OH 45229 , USA"},{"name":"Department of Pediatrics, University of Cincinnati , Cincinnati, OH 45229 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2398-9520","authenticated-orcid":false,"given":"Philippe","family":"Backeljauw","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Cincinnati Children\u2019s Hospital Medical Center , 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