Microdeletion in the IGF-1 receptor gene of a patient with short stature and obesity: a case report

Jong Seo Yoon; Il Tae Hwang

doi:10.1515/jpem-2020-0478

Article

Microdeletion in the IGF-1 receptor gene of a patient with short stature and obesity: a case report

Jong Seo Yoon and Il Tae Hwang

Published/Copyright: January 26, 2021

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 34 Issue 2

Abstract

Objectives

Defects in the IGF-1 receptor gene (IGF1R) induce IGF-1 resistance, characterized by intrauterine and postnatal growth retardation, normal or elevated serum IGF-1 levels, and feeding problems. Obesity, idiopathic growth hormone deficiency (IGHD), bone age advancement, and serum IGF-1 level in the lower half of the reference range are very rare clinical features in patients with IGF1R defects.

Case presentation

In this study, we report the atypical clinical manifestations of IGF1R defects. Short stature girl born small for gestational age were initially diagnosed with IGHD. No catch-up growth was achieved despite sufficiently elevated IGF-1 levels after recombinant human growth hormone (rhGH) treatment. Single nucleotide polymorphism microarray analysis finally confirmed terminal deletion of 15q26.2q26.3 in the subject.

Conclusion

Intrauterine growth retardation, postnatal growth failure, and IGF-1 resistance during rhGH treatment are homologous features exhibited by affected patients, and may be predictive of IGF1R defects.

Keywords: small for gestational age; short stature; IGF-1 receptor; obesity

Corresponding author: Il Tae Hwang, Department of Pediatrics, Hallym University Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea, Phone: +82 10 2396 1772, Fax: +82 2 2224 2251, E-mail: ithwang83@kdh.or.kr

Research funding: None declared.
Author contributions: Conceptualization: Yoon JS, Hwang IT. Data curation: Yoon JS, Hwang IT. Methodology: Hwang IT. Writing – original draft: Yoon JS. Writing, review, and editing: Hwang IT. All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent for participation was obtained from the patient included in this study.

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Received: 2020-08-17

Accepted: 2020-10-15

Published Online: 2021-01-26

Published in Print: 2021-02-23

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Articles in the same Issue

https://doi.org/10.1515/jpem-2020-0478

Keywords for this article

small for gestational age; short stature; IGF-1 receptor; obesity