{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T14:43:39Z","timestamp":1777301019857,"version":"3.51.4"},"reference-count":27,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T00:00:00Z","timestamp":1692144000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,8,16]],"date-time":"2023-08-16T00:00:00Z","timestamp":1692144000000},"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"],"published-print":{"date-parts":[[2024]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Patients with homozygous recessive mutations in &lt;i&gt;STAT5B&lt;\/i&gt; have severe progressive postnatal growth failure and insulin-like growth factor-I (IGF-I) deficiency associated with immunodeficiency and increased risk of autoimmune and pulmonary conditions. This report describes the efficacy and safety of recombinant human IGF-1 (rhIGF-1) in treating severe growth failure due to STAT5B deficiency. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; Three siblings (P1, 4.4 year-old female; P2, 2.3 year-old male; and P3, 7 month-old female) with severe short stature (height SDS [HtSDS] \u22126.5, \u22124.9, \u22125.3, respectively) were referred to the Center for Growth Disorders at Cincinnati Children\u2019s Hospital Medical Center. All three had a homozygous mutation (p.Trp631*) in &lt;i&gt;STAT5B&lt;\/i&gt;. Baseline IGF-I was 14.7, 14.1, and 10.8 ng\/mL, respectively (all &amp;lt; \u22122.5 SDS for age and sex), and IGFBP-3 was 796, 603, and 475 ng\/mL, respectively (all &amp;lt; \u22123 SDS for age and sex). The siblings were started on rhIGF-1 at 40 \u03bcg\/kg\/dose twice daily subcutaneously (SQ), gradually increased to 110\u2013120 \u03bcg\/kg\/dose SQ twice daily as tolerated. HtSDS and height velocity (HV) were monitored over time. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Six years of growth data was utilized to quantify growth response in the two older siblings and 5 years of data in the youngest. Pre-treatment HVs were, respectively, 3.0 (P1), 3.0 (P2), and 5.2 (P3) cm\/year. With rhIGF-1 therapy, HVs increased to 5.2\u20136.0, 4.8\u20137.1, and 5.5\u20137.4 cm\/year, respectively, in the first 3 years of treatment, before they decreased to 4.7, 3.8, and 4.3 cm\/year, respectively, at a COVID-19 pandemic delayed follow-up visit and with decreased treatment adherence. \u0394HtSDS for P1 and P2 was +2.21 and +0.93, respectively, over 6 years, but \u22120.62 for P3 after 5 years and in the setting of severe local lipohypertrophy and suboptimal weight gain. P3 also experienced hypoglycemia that limited our ability to maintain target rhIGF-1 dosing. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; The response to rhIGF-1 therapy is less than observed with rhIGF-1 therapy for patients previously described with severe primary IGF-I deficiency, including patients with documented defects in the growth hormone receptor, but may still provide patients with STAT5B deficiency with an opportunity to prevent worsening growth failure. <\/jats:p>","DOI":"10.1159\/000531491","type":"journal-article","created":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T21:03:05Z","timestamp":1697058185000},"page":"195-202","source":"Crossref","is-referenced-by-count":4,"title":["Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B 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