De novo CHD7 variant in a CHARGE syndrome preterm infant initially diagnosed as idiopathic hypogonadotropic hypogonadism: a case report and literature review.

ABSTRACT:

Background

CHARGE syndrome (CS), a rare and complex autosomal dominant disorder characterized by ocular coloboma, cardiac defects, choanal atresia, growth retardation, genital abnormalities, and ear malformations, is caused primarily by variants in the chromodomain helicase DNA-binding protein 7 (CHD7) gene. The clinical manifestations of CS frequently overlap with those of idiopathic hypogonadotropic hypogonadism (IHH), complicating diagnosis and management. To date, only a few cases of preterm infants with CS have been reported. Here, we describe the clinical features and genetic findings of a very preterm male infant who was initially diagnosed with IHH but was ultimately confirmed to have CS, carrying a de novo heterozygous CHD7 variant, highlighting the diagnostic and manageme

SUBMITTER: Wu J 

PROVIDER: S-EPMC12613921 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature