Disorders of sex development

Ovotesticular DSD

Last author update: 1 August 2011
Last staff update: 1 March 2024

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PubMed Search: True hermaphroditism ovary

Mohiedean Ghofrani, M.D.
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Cite this page: Ghofrani M. Ovotesticular DSD. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumortruehermaph.html. Accessed May 19th, 2024.
Definition / general
  • Ovarian and testicular tissue in the same individual (either bilateral or unilateral ovatestes or separate testis and ovary) with or without abnormal genitalia
  • Very rare, with only about 500 cases identified worldwide
Clinical features
  • Hormone levels are typically normal
Prognostic factors
  • Important to assign gender as soon as possible (in infants, before age 2 - 4), since: (a) usually no other developmental anomalies and (b) patients will have a better chance for normal psychological, sexual and reproductive lives if gonad inappropriate for gender assignment is removed
  • Dysplastic gonads are at risk for developing germ cell malignancy; risk of gonadal malignancy increases if Y chromosome is present
Case reports
  • 16 year old phenotypic boy with gynecomastia and pubertal arrest (Horm Res 2007;68:261)
  • Due to tetragametic chimerism (fertilization of two ova by two sperm, followed by the fusion of the zygotes and the development of an organism with intermingled cell lines, Urology 2009;73:293)
  • Plastic surgery is the mainstay after gender is assigned, based on genetic sex, gonadal sex, social sex, psychologic sex and patient request
  • Conservative gonadal surgery with long term followup (J Urol 2007;177:726)
  • Case series on surgical treatment of 25 cases of hermaphroditism, 4 of whom were true hermaphrodites who had female gender assignment (Ann Plast Surg 2009;63:543)
Microscopic (histologic) description
  • Ovary usually normal (prepubertal ovary has primordial follicles with primary oocytes with a few primary or antral follicles)
  • Prepubertal testis has immature seminiferous tubules lined by immature Sertoli cells and primitive germ cells, usually without spermatogonia
  • Ovotestis often has normal ovarian tissue with atrophic testicular tissue (Obstet Gynecol 2009;113:534)
Microscopic (histologic) images

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Ovotesticular DSD

Ovotesticular DSD

Positive stains
Molecular / cytogenetics description
  • 70% are 46,XX; 10% are 46,XY; 20% show various forms of mosaicism; less than 1% show 46,XX / 46, XY chimerism or two or more cell lines of different genetic origins
  • 80% have chromatin positive Barr bodies
  • 60% are 46,XX only in blood cells with Y chromosome present in most of rest of cells
Differential diagnosis
  • Mixed gonadal dysgenesis:
    • Ovarian tissue, if present, lacks primordial follicles; internal / external genitalia are not relevant for distinguishing these 2 conditions
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