Ovary - nontumor - Testicular feminization

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Ovary - nontumor

Gonadal dysgenesis

Testicular feminization

Reviewer: Mohiedean Ghofrani, M.D, (see Reviewers page)
Revised: 28 December 2011, last major update December 2011
Copyright: (c) 2002-2012, PathologyOutlines.com, Inc.

General
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● Male genotype (46,XY), but impaired or absent masculinization of male genitalia or development of male secondary sexual characteristics at puberty due to partial or complete inability of cells to respond to androgens (androgen insensitivity)
● Most common type of male pseudohermaphroditism
● Patients present with amenorrhea or sterility
● Vagina but no uterus
● Also, bilateral cryptorchid testes with nodular masses of immature tubules resembling Sertoli-Leydig tumor

Terminology
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● Also called androgen insensitivity syndrome (AIS)
● Divided into three categories:
    ● Complete androgen insensitivity syndrome (CAIS): normal female external genitalia
    ● Mild androgen insensitivity syndrome (MAIS): normal male external genitalia
    ● Partial androgen insensitivity syndrome (PAIS): partially but not fully masculinized external genitalia

Etiology
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● Most commonly, a mutation in the androgen receptor (AR) gene
● Other etiologies include: chromosomal abnormalities, dysfunctional androgen biosynthesis, developmental syndromes, teratogens

Clinical features
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● Depending on the severity of androgen insensitivity, patients may present with male, female or ambiguous phenotype
● Given the presence of a Y-chromosome (more specifically, SRY gene), gonads are testes regardless of phenotype
● Physical exam may reveal a vagina but no ovaries or uterus

Prognostic factors
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● 9% develop tumors in cryptorchid testis, which should be removed after puberty

Case reports
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● 36 year old with abdominal seminoma (J Obstet Gynaecol Res 2004;30:109)

Treatment
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● Currently limited to symptomatic management, including sex assignment, genitoplasty, gonadectomy, hormone replacement, counseling

Gross images
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Multiple hamartomas are present in a background of brown parenchyma. Nodule at each upper (medial) pole is a mass of smooth muscle; the small white nodule at the lower (lateral) pole of the left testis was composed largely of fibromatous tissue and resembles an ovarian fibroma. The remaining hamartomas contained Sertoli and Leydig cells and stroma; a small adnexal cyst is present at the lower (lateral) pole of the left testis (AFIP)

Micro description (Histopathology)
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● Bilateral cryptorchid testes with nodular masses of immature tubules resembling Sertoli-Leydig tumor

Micro images
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Ovarian type stroma with a storiform pattern containing a few lutein-like cells envelops two small solid tubules containing Sertoli cells

Tubules containing immature Sertoli cells are separated by cells resembling Leydig cells

Testis is composed almost entirely of stroma resembling ovarian stroma

Hamartomas are composed of Sertoli and Leydig cells and lie in the upper left, testicular parenchyma is at lower right

Additional references
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● Wikipedia, Medicine

End of Ovary - nontumor > Gonadal dysgenesis > Testicular feminization

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