Mixed Gonadal Dysgenesis

Mixed Gonadal Dysgenesis (MGD), a disorder of sexual differentiation and is the most frequent chromosomal abnormality presenting with ambiguous genitalia, second only to congenital adrenal hyperplasia (CAH) in newborns. The majority have a 45X/46XY karyotype. Patients have variable internal and external anatomy, with some cases presenting as virilized females. Somatic signs of Turner’s syndrome may be present. Patients may have various degrees of undescended testis, labial fusion, clitoromegaly, epispadias, or hypospadias. Along with this varied clinical spectrum, the chromosomal disposition also shows a wide variation (e.g., 45,X/46,XY or 46,XX/46,XY, and others). Patients are infertile and there is a notable vulnerability towards malignancy which increases with age. Treatment depends on whether the child has been reared as a male or a female and the genetic imprint on the child. Patients also need screening for other associated malignancies like Wilms tumor. Treating Physicians should consider subjective threat, formulate an personalized plan best suited to the patient, and avoid doing irreversible surgeries. A comprehensive plan for long-term management allowing children to do well and thrive in childhood should be executed by a multidisciplinary team.