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Gonadal dysgenesis and morphometric histologic analysis

Partial gonadal dysgenesis (PGD) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent Müllerian ducts and cryptorchidism in intersex patients with a 46,XY karyotype. Although the abnormalities observed in dysgenetic testes are well defined, they are not routinely evaluated by the pathologist. This work reviews in detail the gonadal histologic structure evolution during the lifespan and the histologic data necessary to evaluate the cases with gonadal dysgenesis suspected. We also show the morphometric and histologic features of 22 gonads from 13 children with clinical and laboratory diagnosis of PGD, but without histologic confirmation in the first evaluation. These morphometric and histologic findings confirmed the diagnosis of PGD in every patient in the present series. However, gonadal histology was variable and a careful morphometric evaluation may be necessary to establish the diagnosis.

Intersex; Cryptorchidism; Dysgenetic gonad; Histology; Morphometry

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