Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2024 Dec 4;16(4):481-488.
doi: 10.4274/jcrpe.galenos.2022.2022-8-1. Epub 2023 Jan 23.

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

Nur Berna Çelik  1 , Monique Losekoot  2 , Emregül Işık  1 , E Nazlı Gönç  1 , Ayfer Alikaşifoğlu  1 , Nurgün Kandemir  1 , Z Alev Özön  1
Affiliations
Case Reports

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

Nur Berna Çelik et al. J Clin Res Pediatr Endocrinol. .

Abstract

Insulin-like growth factor-1 (IGF-1) is the main driver of growth during prenatal life and acts through IGF-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 mental retardation. Genetic analysis for IGF1R revealed heterozygous deletion of the complete IGF1R. 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 IGF1R defects. However, long-term treatment with an early initiation may have more beneficial effects. In addition, patients with IGF1R defects should be followed for delayed puberty-hypogonadism, and hypothyroidism.

Keywords: IGF1R; delayed puberty; deletion; growth hormone therapy; hypothyroidism.

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest: One author of this article, Z. Alev Özön is a member of the Editorial Board of the Journal of Clinical Research in Pediatric Endocrinology. However, she did not take part in any stage of the editorial decision of the manuscript. The editors who evaluated this manuscript are from different institutions. The other authors declared no conflict of interest.

Figures

Figure 1
Figure 1
Growth chart of the patient. The patient had two courses of growth hormone therapy. Normative data for boys is from the Centers for Disease Control and Prevention GH: growth hormone
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Walenkamp MJ, Losekoot M, Wit JM. Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management. Endocr Dev. 2013;24:128–137. doi: 10.1159/000342841. - DOI - PubMed
    1. Liu JP, Baker J, Perkins AS, Robertson EJ, Efstratiadis A. Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell. 1993;75(1):59–72. doi: 10.1016/s0092-8674(05)80084-4. - DOI - PubMed
    1. Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfäffle R, Raile K, Seidel B, Smith RJ, Chernausek SD, Intrauterine Growth Retardation (IUGR) Study Group. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med. 2003;349(23):2211–2222. doi: 10.1056/NEJMoa010107. - DOI - PubMed
    1. Walenkamp MJE, Robers JML, Wit JM, Zandwijken GRJ, van Duyvenvoorde HA, Oostdijk W, Hokken-Koelega ACS, Kant SG, Losekoot M. Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor. J Clin Endocrinol Metab. 2019;104(8):3157–3171. doi: 10.1210/jc.2018-02065. - DOI - PubMed
    1. Gonc EN, Ozon ZA, Oguz S, Kabacam S, Taskiran EZ, Kiper POS, Utine GE, Alikasifoglu A, Kandemir N, Boduroglu OK, Alikasifoglu M. Genetic IGF1R defects: new cases expand the spectrum of clinical features. J Endocrinol Invest. 2020;43(12):1739–1748. doi: 10.1007/s40618-020-01264-y. - DOI - PubMed

Publication types

LinkOut - more resources