Definition: Presence of both ovarian and testicular tissue in the same gonad (ovotesis) or in a contralateral gonad (ovary on one side, testis on another one).
Imaging
The characteristic imaging feature of true hermaphrodism is the presence of an ovotestis or of one testis and one ovary in the same patient.
An ovotestis may be seen as a structure with a combination of testicular echo-texture and follicles.
Gonads with a normal ovarian and testicular appearance at US may prove to be ovotestes at histologic analysis.
The uterus is almost always present in ovotesticular DSD.
Synopsis
ovotesticular DSD
true hermaphroditism
ambiguous external genitalia
normal uterus
gonadal tissue in the inguinal canal or iliac fossa
no follicles seen in gonads
normal vagina
urethral female type or severe hypospadias
Biopsy of gonads
immature testicular tissue
ovotestis
Cytogenetics analysis
46,XY in both gonads
Etiology (Exemple)
translocation of the SRY gene to a cryptic site on the X chromosome described in a few cases
SOX9 germline mutations (Cameron et al, 1996; Beaulieu-Bergeron M et al, 2009).
See also
disorders of sexual differentiation (intersex disorders)
hermaphrodisms
pseudohermaphrodisms
- male pseudohermaphrodism
- female pseudohermaphrodism
intersex
References
A case of true hermaphroditism reveals an unusual mechanism of twinning. Souter VL, Parisi MA, Nyholt DR, Kapur RP, Henders AK, Opheim KE, Gunther DF, Mitchell ME, Glass IA, Montgomery GW. Hum Genet. 2007 Apr;121(2):179-85. PMID: 17165045