J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-53315 | DOI: 10.4274/jcrpe.galenos.2022.2022-8-1

Long Term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism

Nur Berna Celik¹, Monique Losekoot², Emregül Isýk¹, E. Nazlý Gonc¹, Ayfer Alikasifoglu¹, Nurgün Kandemir¹, Z. Alev Ozon^1
1Department of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey
²Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands

Insulin-like growth factor-1 (IGF-1) is the main driver of growth during prenatal life and acts through insulin-like growth factor 1 receptor (IGF1R). Patients with IGF1R defects exhibit variable phenotypic features. A 10.9-year-old boy presented with severe short stature, microcephaly, minor dysmorphic features and mild mental retardation. Genetic analysis for IGF1R revealed heterozygous deletion of the complete IGF1R. At the age of 12.3 years, daily subcutaneous 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 could not develop full puberty suggesting partial hypogonadotropic hypogonadism. Hypothyroidism initially developed during rhGH therapy. However, low T4 levels sustained after cessation of rhGH therapy thus central hypothyroidism is a likely diagnosis. rhGH has partial effect for induction of growth in cases with IGF1R defects. However, long-term treatment with an early onset may have more beneficial effects. In addition, patients with IGF1R defects should be followed for delayed puberty-hypogonadism, and hypothyroidism.

Keywords: IGF1R, deletion, growth hormone therapy, delayed puberty, hypothyroidism

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