46 XY disorder of sex development: Case report

Abstract

Disorders of sexual differentiation in 46, XY patients cover a wide spectrum of clinical pictures (female phenotype, posterior hypospadias, cryptorchidism). Their causes are varied and affect the stages of testicular determination (gonadal dysgenesis) or defects in testosterone production or action (testosterone secretion abnormalities, androgen insensitivity, 5⍺-reductase deficiency). They require rational and rapid management, within a multidisciplinary team. We report a rare case of this disorder in a patient of 18 years with the therapeutic obstacles that we faced in its management.