Disgenesia gonadal mixta asociado a mosaico cromosómico tipo 45X/46XY: reporte de un caso

Abstract

Background: Mixed gonadal dysgenesis is a subtype of disorders of sex development (DSD) associated with abnormalities in sex chromosomes, constituting a rare but relevant cause of infertility. It affects 1 in 10,000 live births, presenting a mosaic karyotype with mos 45,X/46,XY formula, with a typical male phenotype, ambiguous genitalia, or features of Turner syndrome. A good clinical evaluation and special tests are essential for an early diagnosis. In our region, no cases of this clinical presentation have yet been documented in the literature. Case description: An 8-year-old male patient was treated at the Vicente Corral Moscoso Hospital for presenting penoscrotal hypospadias since birth. At two years of age, hypospadias corrective surgery was attempted but proved unsuccessful due to the lack of subsequent follow-up, obviating the need for further surgery. Presently, physical examination shows short stature, cryptorchidism, and a curved penis. A karyotype was requested for presenting DSD, hypospadias type, which was reported as 45,X/46XY. Two years later, a molecular study was undertaken in search of the SRY gene, which was positive. For this reason, the diagnosis of mixed gonadal dysgenesis was made. Conclusion: Early diagnosis is necessary to provide an appropriate transdisciplinary treatment focused on the particular characteristics of each case to avoid complications. Other treatment alternatives include corrective surgery and hormonal therapy