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Gonadal dysgenesis

True hermaphroditism

Reviewer: Mohiedean Ghofrani, M.D. (see Reviewers page)
Revised: 9 August 2011, last major update August 2011
Copyright: (c) 2002-2011, PathologyOutlines.com, Inc.


● Ovarian and testicular tissue in the same individual (either bilateral or unilateral ovatestes or separate testis and ovary) with or without abnormal genitalia


● “Ovotesticular disorder of sex development (DSD)” in the new terminology (Best Pract Res Clin Endocrinol Metab 2010;24:187)


● Hormone levels are typically normal


● Very rare, with only about 500 cases identified worldwide (PubMed Health)

Clinical features

● All have uterus, most have fallopian tubes, some have vas deferens
● Usually ambiguous genitalia (J Pediatr Endocrinol Metab 2001;14:421)
● At puberty, 80% have gynecomastia, 50% menstruate
● May be associated with transexualism (Urologiia 2008;2:14)
● All true hermaphrodites who have successfully completed pregnancy have had male offspring to date (Obstet Gynecol 2009;113:534)

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

● 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)
● 16 year old phenotypic male with gynecomastia and pubertal arrest (Horm Res 2007;68:261)


● 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)

Micro 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)

Micro images


Positive stains

● Placental-like alkaline phosphatase (PLAP)-stained gonocytes indicates higher risk of malignant transformation (Int J Gynecol Pathol 2010;29:33)

Molecular 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 46XX 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 two conditions

End of Ovary-nontumor > Gonadal dysgenesis > True hermaphroditism

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