Hyperinsulinemia in Sotos Syndrome with a < em > de novo NSD1 < /em > Deletion

We report the clinical features and medical treatment in a new-born child with Sotos syndrome and CHI that was present for almost two years. Genetic cause of Sotos syndrome in this case was a novel, large genomic deletion encompassing 24 OMIM genes including the entire NSD1 gene and 6 other Morbid genes. Our report shows challenges in diagnostics and management of this rare genetic condition. We propose, that in neonatal diagnostics, the phenotypic spectrum of Sotos syndrome should include CHI as a characteristic feature and molecular genetic testing should be done by whole genome analysis.PMID:38344969 | DOI:10.4274/jcrpe.galenos.2024.2023-5-15
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Authors: Source Type: research