Abstract
Chromosome 15q26-qter deletion syndrome is a rare disease that causes prenatal and postnatal growth retardation, microcephaly, developmental delay, and congenital heart diseases, mainly due to haploinsufficiency of IGF1R. In addition, patients with pathogenic variants of the IGF1R show similar symptoms. We report the case of a 5-month-old girl with prenatal and postnatal growth retardation, microcephaly, and congenital heart disease. At 5 months of age, her length was 54.7 cm (−4.3 SD), her weight was 4.4 kg (−3.1 SD), and her head circumference was 37.4 cm (−2.8 SD), thus presenting severe growth retardation. Repeated pre-feeding serum GH levels were abnormally high (26.1–85.5 ng/mL), and IGF-1 levels (+0.16 to +1.2 SD) were relatively high. The 15q sub-telomere fluorescence in situ hybridization analysis revealed a heterozygous deletion in the 15q terminal region. Whole-genome single nucleotide polymorphism microarray analysis showed a terminal deletion of 6.4 Mb on 15q26.2q26.3. This is the first report showing that fasting GH levels are high in early infancy in patients with IGF1R abnormalities. In addition to relatively high IGF-1 levels, elevated fasting GH levels in early infancy may contribute to the diagnosis of IGF1R abnormalities.
Highlights
We report the case of a girl with pre- and post-natal severe growth retardation, microcephaly, and atrial septal defect (ASD), where high serum growth hormone (GH) levels in addition to relatively high insulin-like growth factor 1 (IGF-1) levels led to a definitive diagnosis
The arrows indicate the positions of NR2F2 and insulin-like growth factor 1 receptor (IGF1R) on 15q26.2-26.3, contained in the we describe a 5-month-old girl with a chromosome 15q-terminal deletion deletion range
IGF-1, insulin-like growth factor 1; GH, growth hormone; SDS, standard deviation score; NA, data not available; y, years; m, months; M, male; F, female; Peak GH, GH peak was assessed in stimulation test; *, The ranges of IGF-1 levels are those described in the respective manuscripts; **, Patients’ IGF-1 SDS values reported in the respective manuscripts
Summary
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. Chromosome 15q-terminal deletion syndrome (OMIM #612626) is a heterozygous deletion of chromosome 15q26-qter that causes prenatal and postnatal growth retardation, microcephaly, developmental delay, and various abnormalities [1]. 15q26 region, such as insulin-like growth factor 1 receptor (IGF1R) and nuclear receptor subfamily 2 group F member 2 (NR2F2), show different phenotypes resulting from heterozygous deletions. Since insulin-like growth factor 1 (IGF-1) and its receptor play an important role in skeletal growth and brain development, IGF1R deletions cause intrauterine and postnatal growth retardation, and mild developmental delay [5]. We report the case of a girl with pre- and post-natal severe growth retardation, microcephaly, and ASD, where high serum GH levels in addition to relatively high IGF-1 levels led to a definitive diagnosis
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