46,XX/46,XY Chimeric Ovotesticular DSD

Disorder of sex development is a condition of congenitally derived atypical development of chromosomal, gonadal, or anatomic sex. Ovotesticular DSD has testicular tissue with seminiferous tubules as well as ovarian tissue with follicles in the same or opposite gonad and is characterized by karyotype—46,XX/46,XY chimerism. The most common form of ovotesticular DSD is associated with 46,XX karyotype. Most commonly present as ambiguity of genitalia or significant hypospadias. The internal genitalia is extremely variable in these patients. Diagnosis of chimeric ovotesticular DSD depends on karyotyping—46,XX/46,XY. Other measures—hormonal assay, radio-imaging to visualize the internal genitalia, laparoscopy for detailed information of internal structures, and biopsy for testicular/ovarian tissue. Gender designation—most challenging decision. Female designation for 46,XX karyotype with uterus and minimal virilization. Male designation given if clitoromegaly with functional testicular tissue and poor Mullerian structure. Gonadotrophin Relaesing Hormone (GnRH) agonists and/or aromatase inhibitors used till puberty if more time is needed for decision-making. Sex hormone supplementation is required. There is an increased risk of malignancy in these patients. Parental counseling is one of the key measures.