Received May 10, 2021
Accepted November 30, 2021

The disorder of sexual development with male 46,XX karyotype is a rare syndrome characterized by an inconsistency between genotype and phenotype. Affected individuals present variant genitalia between male and ambiguous, non-functional testicles, non-obstructive azoospermia, and generally develop hypergonadotropic hypogonadism, a condition of high levels of gonadotrophic hormones. In some cases, disorder of sexual development diagnosis occurs during puberty. However, a significant number of individuals show physical characteristics common to males that are not clinically suspicious. As a result, identification may go unnoticed. Many of the diagnoses occur in the adult phase due to infertility. Therefore, the present report aims to disclose a case of an individual who, due to his sterile condition, was investigated through a karyotype analysis and was found to be a 46,XX male. Despite having a female karyotype, the presence of the Y chromosome sex-determining region gene explains the manifestation of masculine secondary characteristics. This case report highlights the importance of genetic evaluation, considering that carriers may present significant complications resulting from the disorder. Based on the correct diagnosis, it is possible to improve a carrier’s quality of life through multidisciplinary approaches and help them achieve pregnancy through assisted reproductive treatments.