A Case of de la Chapelle Syndrome

Abstract

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.

Exploring uncharted territory: A case report on de la Chapelle syndrome presenting as male subfertility

“…Notably, even without a Y chromosome, offspring from a sperm cell carrying an X chromosome with the SRY gene can develop as phenotypic males. This condition is referred to as SRY-positive 46, XX testicular DSD [ [1] , [2] , [3] , [4] ]. In 46 XX male syndromes, 90 % of patients harbour Y chromosomal material, including the SRY gene.…”

“…The de la Chapelle syndrome, also known as 46 XX testicular disorders, is one of the rare genetic disorders that influence sexual development. It is a distinctive genetic condition characterized by the incongruity between chromosomal and phenotypic sex with an incidence of 1:20,000 to 25,000 among male infants [ 1 , 2 ]. This condition is further classified into sex-determining region Y gene (SRY) -positive and SRY-negative individuals, depending on the presence or absence of SRY gene on the X chromosome due to translocation.…”

“…However, they have diverse forms of disorders affecting their physical, hormonal, and genetic aspects of sex development, especially undescended testes and potential infertility due to azoospermia due to this structural chromosomal anomaly in their later life. [ [1] , [2] , [3] , [4] ]. We hereby report a rare case of de la Chapelle syndrome.…”