A Case of de la Chapelle Syndrome

A rare disorder of sex development (DSD) linked to a 46,XX karyotype is characterized by male external genitalia, which can range from typical to atypical, often accompanied by testosterone deficiency. A 3-year-old child who appeared phenotypically male was brought to the hospital by his parents due to concerns about ambiguous genitalia. A comprehensive series of pathological tests and radiological imaging studies were conducted to ascertain the underlying cause of his presentation. Karyotyping revealed a 46,XX genotype, while magnetic resonance imaging (MRI) results indicated the presence of both testes and a Müllerian remnant. Consequently, the diagnosis was established as the de la Chapelle syndrome. This case report aims to highlight various imaging findings associated with this syndrome.