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Kongenitale Nebennierenrindenhyperplasie mit maximaler Virilisierung (penile urethra)

Kasuistik der Weltliteratur und ein eigener Beitrag

Congenital adrenal hyperplasia with total virilisation (penile urethra)

Review of the cases described in the world literature and case report of one personal observation

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Summary

This paper is a review of all cases of total virilisation of the external genitalia of female individuals due to congenital adrenal hyperplasia so far reported in the world literature. One personal observation is also reported.

23 paediatric cases which are described in detail and for which the diagnosis is quite certain have been published so far; in 14 out of these 23 cases the diagnosis was made intra vitam. Two cases, diagnosed intra vitam and described undoubtly, are reported in adults. Another 12 cases which are reported in the literature — amongst them at least three adults — could not be proved with certainty. Regarding the desirable congruity between gonadal and social sex and the necessity of an operative change of sex in the patients discussed, the findings on structures of the internal genitalia reported by autopsy are studied in detail. With great regularity a small lumen was found between the pars prostatica of the urethra and the distal third of the vagina, which may be often found to be hypoplastic. In our opinion this situation is a great problem to surgical therapy which should result in an anatomically as well as functionally satisfactory situation.

Zusammenfassung

Es werden die im Weltschrifttum publizierten Fälle von vollständiger Virilisierung des äußeren Genitale bei weiblichen Individuen auf Grund einer kongenitalen Nebennierenrindenhyperplasie zusammengestellt. Ein eigener Casus wird beschrieben.

Als ausführlich beschrieben und gesichert angesehen wurden 23 pädiatrische Fälle, von denen 14 intra vitam diagnostiziert wurden. Zwei vergleichbare Fälle wurden im Erwachsenenalter diagnostiziert. Weitere 12 in der Literatur mitgeteilte Fälle — dabei mindestens 3 Erwachsene — ließen eine abschließende Beurteilung nicht zu. Unter Berücksichtigung der anzustrebenden Kongruenz zwischen gonadalem und sozialem Geschlecht und der somit notwendigen operativen Geschlechtsumwandlung wird an Hand der Autopsiebefunde festgestellt, daß mit großer Regelmäßigkeit eine sehr kleinlumige Verbindung zwischen dem blind endigenden, meist wohl hypoplastischen unteren Vaginalanteil und der Pars prostatica der Urethra zu finden ist, ein Befund, der für ein anatomisch wie funktionell befriedigendes Ergebnis eine sehr problematische Ausgangssituation darstellt.

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  1. Kinderklinik des Klinikum Essen der Ruhr-Universität Bochum, Essen, Deutschland

    H. Stolecke

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Stolecke, H. Kongenitale Nebennierenrindenhyperplasie mit maximaler Virilisierung (penile urethra). Z. Kinder-Heilk. 107, 343–365 (1970). https://doi.org/10.1007/BF00438895

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