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Ovotesticular DSD (Hermaphroditism)
Definition of Ovotesticular DSD
Ovotesticular DSD (obsolete term: true hermaphroditism) is a disorder of sex development characterized by the presence of both testicular and ovarian tissue. The external genitalia are ambiguous but often masculinized; the majority of patients are raised with a male gender role.
Etiology of Ovotesticular DSD:
Most common is 46,XX karyotype, followed by mosaic 46,XX/46,XY and unusually 46,XY karyotype. Causes for the development of ovotestes are Y on X translocations, mutations of SRY-target genes, activating mutations of X-linked genes, or a mosaic affecting only the gonads.
Signs and Symptoms:
The external genitalia are male (often with cryptorchidism or hypospadias), female or ambiguous. The gonads may present as an ovary on one side and a testis on the contralateral side or as ovotestis with mixed gonadal tissue. The gonads may be in either labioscrotal, inguinal, or abdominal position. An urogenital sinus and uterus are present but often hypoplastic. The internal ducts (fallopian tube, ductus deferens) are variable. Female fertility is possible, but male fertility is unlikely.
Karyotyping, hormone analysis, imaging to locate the gonads, and laparoscopy to evaluate internal genitalia if necessary.
Treatment of Ovotesticular DSD
The sexual development is difficult to predict and must continually be assessed individually. The gonads are preserved until puberty with regular controls (imaging); the tumor risk is considered low. Treatment options in puberty are hormone substitution to support the desired gender role, gender reassignment surgery, and possibly prophylactic removal of the gonads due to the tumor risk.
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C. Radmayr, G. Bogaert, H. S. Dogan, and Tekgü, “EAU Guidelines: Paediatric Urology,” 2022. [Online]. Available: https://uroweb.org/guidelines/paediatric-urology/.
Deutsche Version: Ovotestikuläre DSD