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J Clin Res Pediatr Endocrinol. 2019 Sep 3;11(3):293-300. doi: 10.4274/jcrpe.galenos.2019.2018.0236. Epub 2019 Mar 12.

Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation

Author information

1
University of Chile Faculty of Medicine, Institute of Maternal and Child Research, Santiago, Chile
2
Leiden University Medical Center, Department of Clinical Genetics, Leiden, The Netherlands
3
Emma Children’s Hospital, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Department of Pediatric Endocrinology, Amsterdam, The Netherlands
4
Leiden University Medical Center, Department of Pediatrics, Leiden, The Netherlands

Abstract

Objective:

Insulin like growth factors-1 (IGF-1) is essential for normal in utero and postnatal human growth. It mediates its effects through the IGF-1 receptor (IGF1R), a widely expressed cell surface tyrosine kinase receptor. The aim of the study was to analyze pre- and post-natal growth, clinical features and laboratory findings in a small for gestational age (SGA) girl in whom discordant postnatal growth persisted and her appropriate for gestational age (AGA) brother.

Methods:

A girl born with a low weight and length [-2.3 and -2.4 standard deviation (SD) score (SDS), respectively] but borderline low head circumference (-1.6 SD) presented with a height of -1.7 SDS, in contrast to a normal height twin brother (0.0 SDS). IGF-1 resistance was suspected because of elevated serum IGF-1 levels.

Results:

Sequencing revealed the presence of a previously described pathogenic heterozygous mutation (p.Glu1050Lys) in the SGA girl which was not present in the parents nor in the AGA twin brother.

Conclusion:

The pathogenic IGF1R mutation in this girl led to intrauterine growth retardation followed by partial postnatal catch-up growth. Height in mid-childhood was in the lower half of the reference range, but still 1.7 SD shorter than her twin brother.

KEYWORDS:

Insulin-like growth factor type-1; small for gestational age; postnatal growth; intrauterine discordancy; insulin-like growth factor type-1 receptor

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