46,XY Pure Gonadal Dysgenesis (Swyer-James Syndrome)—Y or Y Not?: A Review

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The designation “pure gonadal dysgenesis” is applied to a particular variety of defective organogensis, in which phenotypically female patients with a 46,XY karyotype have complete lake of functioning gonadal tissue. The latter are represented anatomically by the presence of bilateral, alongated, nonfunctioning rudimentary “streak” gonads composed of fibrous tissue, although normal female internal genitalia are present. The purpose of this review is to present the exiting literature accumulated from 1955 to 1992 pertaining to 46,XY pure gonadal dysgenesis (Swyer-James syndrome), add the findings of a personally observed patient, and highlight the complexties in attempting to determine the etiology of this rare condition.

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