{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T17:54:19Z","timestamp":1775066059657,"version":"3.50.1"},"reference-count":22,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T00:00:00Z","timestamp":1771200000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T00:00:00Z","timestamp":1771200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"abstract":"<jats:p>Introduction: Evidence for growth hormone therapy in Indian hedgehog (IHH)-related short stature is limited. The aim of present study was to assess growth outcomes in children with heterozygous pathogenic IHH variants treated with recombinant human growth hormone (rhGH). Methods: This is a retrospective cohort of 19 children with short stature carrying heterozygous deleterious IHH variants treated with daily rhGH (33\u201350 \u00b5g\/kg\/day); 10 attained adult height. Outcomes were height SD score (SDS), height velocity, and adult height SDS. Results: At treatment start, median height SDS was \u22122.6 (IQR: \u22123.0; \u22122.2) and height velocity 5.1 cm\/year (IQR: 4.3; 6.2). After 1 year, height velocity increased to 9.2 cm\/year (IQR: 7.9; 10.3) and height SDS to \u22121.9 (IQR: \u22122.3; \u22121.6), with \u0394height SDS 0.7 (IQR: 0.5; 1.0). Over a median of 4.0 years of therapy (IQR: 3.4; 5.7), total \u0394height SDS was 1.2 (IQR: 0.8; 1.5), and 16\/19 (84%) had height SDS \u2265 \u22122.0 at last follow-up. At last follow-up, patients with predicted loss-of-function variants (n = 6) showed higher height SDS than those with missense variants (n = 13) (\u22120.8 [IQR: \u22120.9; \u22120.7] vs. \u22121.7 [IQR: \u22121.9; \u22121.6]) and greater \u0394height SDS (1.4 [IQR: 1.2; 1.9] vs. 0.8 [IQR: 0.7; 1.3]). Among those reaching adult height, adult height SDS was \u22121.7 (IQR: \u22121.9; \u22121.6) after a median of 5.8 years of therapy (IQR: 4.0; 7.3), with \u0394height SDS 0.8 (IQR: 0.7; 1.4). Conclusions: rhGH therapy was associated with clinically meaningful height gains, including adult height improvement, in children with IHH-related short stature; variant class may modify response.<\/jats:p>","DOI":"10.1159\/000551045","type":"journal-article","created":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T17:00:58Z","timestamp":1771261258000},"page":"1-9","source":"Crossref","is-referenced-by-count":0,"title":["Long-Term Growth Hormone Therapy Improves Adult Height in Children with Indian Hedgehog-Related Short Stature"],"prefix":"10.1159","author":[{"given":"Joaquim de Matos","family":"Cavalcante","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurana de Polli","family":"Cellin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda Latuffe 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