DOI: 10.36347/sjmcr.2024.v12i05.099

Pages: 957-962

DSD 46 XY constitute an entity of sexual differentiation disorders well codified semantically, but very heterogeneous clinically and etiologically. These are several conditions of varying severity, but all characterized by a male chromosomal sex, attested by genetic identification of gonosome Y, and associated with either gonad dysgenesis (testicle), or malformations of the male genital tract, ranging from a simple hypospadias to a typically female phenotype [1]. The etiological diagnosis of DSD is delicate, and it involves a clinical and biological evaluation at first, followed by molecular biology examinations. The nosological framework associating 46-XY DSD with a female phenotype implies the presence of completely dysgenetic gonads. Etiologies are dominated by mutations in SRY and SF1 [2]. Through this work, we describe the case of a young «girl» of indisputable female morphotype, and in whom the diagnosis of a 46 XY DSD was established before pubertal delay and primary amenorrhea. Objective: always consider the diagnosis of DSD regardless of the age of the patient, and establish an etiological diagnosis according to the means available. Ethical considerations: In accordance with current regulations, an informed, written and verbal consent was provided to the guardians of the young patient before considering the publication of this work.