Çelik Nur Berna, Losekoot Monique, Işık Emregül, Gönç E Nazlı, Alikaşifoğlu Ayfer, Kandemir Nurgün, Özön Z Alev
Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Ankara, Turkey
Leiden University Medical Centre, Department of Clinical Genetics, Leiden, The Netherlands
J Clin Res Pediatr Endocrinol. 2024 Dec 4;16(4):481-488. doi: 10.4274/jcrpe.galenos.2022.2022-8-1. Epub 2023 Jan 23.
Insulin-like growth factor-1 (IGF-1) is the main driver of growth during prenatal life and acts through IGF-1 receptor (). Patients with defects exhibit variable phenotypic features. A 10.9-year-old boy presented with severe short stature, microcephaly, minor dysmorphic features and mental retardation. Genetic analysis for revealed heterozygous deletion of the complete . At the age of 12.3 years, daily subcutaneous recombinant human growth hormone (rhGH) was started and continued for a total of 5.7 years in two courses with improvement of height velocity as well as final height. Puberty was delayed and eventually he did not achieve full puberty, suggesting partial hypogonadotropic hypogonadism. Hypothyroidism initially developed during rhGH therapy. However, low T4 levels persisted after cessation of rhGH therapy and thus central hypothyroidism is a likely diagnosis. rhGH has partial effect for induction of growth in cases with defects. However, long-term treatment with an early initiation may have more beneficial effects. In addition, patients with defects should be followed for delayed puberty-hypogonadism, and hypothyroidism.
胰岛素样生长因子-1（IGF-1）是胎儿期生长的主要驱动力，并通过IGF-1受体发挥作用。IGF-1缺陷患者表现出可变的表型特征。一名10.9岁男孩表现为严重身材矮小、小头畸形、轻微畸形特征和智力发育迟缓。对IGF-1的基因分析显示整个IGF-1基因杂合缺失。12.3岁时开始每日皮下注射重组人生长激素（rhGH），分两个疗程共持续5.7年，身高增长速度以及最终身高均有改善。青春期延迟，最终未达到完全青春期，提示部分性低促性腺激素性性腺功能减退。甲状腺功能减退最初在rhGH治疗期间出现。然而，rhGH治疗停止后低T4水平持续存在，因此中枢性甲状腺功能减退很可能是诊断结果。rhGH对IGF-1缺陷病例的生长诱导有部分作用。然而，早期开始长期治疗可能有更有益的效果。此外，IGF-1缺陷患者应随访青春期延迟-性腺功能减退和甲状腺功能减退情况。
