Delayed Puberty and Anosmia in CHARGE Syndrome

A 26-year-old lady presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayedpuberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmedby a heterogenous de novo pathogenic variant c.6955C >T:p.(Arg2319Cys) detected in the CHD7 gene. Detailedassessment, including olfaction, ophthalmic and auditory examination should be part of the evaluation framework in children with delayed growth and puberty.