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• W2093969892 abstract "Familial male pseudohermaphroditism represents a group of clinically and genetically heterogeneous conditions. The “complete” or most severe forms of the Swyer syndrome and the “feminizing testes syndrome” (FTS) are easy to diagnose and to differentiate from the other types of genetic male pseudohermaphroditism. This paper deals primarily with one of these conditions: pseudovaginal perineoscrotal hypospadias (PPSH) which presumably is due to the homozygous state of an uncommon recessive gene and which is (classically) characterized by perineoscrotal hypospadias with either a separate perineal vaginal opening or a utricular “pseudovaginal” outpouching of the urethra, cleft scrotum-like labioscrotal folds, each containing a grossly and microscopically normal testis with epididymis and rudimentary vas deferens, absence of Müllerian duct derivatives, striking virilization at puberty, usually with no or only minimal gynecomastia. The authors report one sporadic and nine familial cases of PPSH from five families and discuss the differential diagnosis of PPSH primarily with respect to the so-called incomplete feminizing testes syndrome(s) (IFTS), the “Reifenstein syndrome”, and the “incomplete” forms of the Swyer syndrome. The pertinent available reports on PPSH, the IFTS, and the Reifenstein syndrome are abstracted in separate appendices to this paper." @default.
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• W2093969892 date "2008-04-23" @default.
• W2093969892 modified "2023-10-14" @default.
• W2093969892 title "Pseudovaginal perineoscrotal hypospadias" @default.
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• W2093969892 doi "https://doi.org/10.1111/j.1399-0004.1972.tb01721.x" @default.
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