Kongenitale Nebennierenrindenhyperplasie mit maximaler Virilisierung (penile urethra)

Abstract

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 diagqlosis 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. NchliisselwSrter: Virilisierende Nebennierenrindenhyperplasie-KongenitalesNebennierenrindensyndrom --Totale Virilisierung bedingt durch kongenitale Nebennierenrindenhyperplasie.Die kongenitale Nebennierenrindenhyperplasie (CNH) ist in den vergangenen 15 Jahren Gegenstand intensiver kliniseher und endokrinologischer Forsehung gewesen. Die entseheidenden Kenntnisse verdanken wir den Arbeitskreisen yon , . Eine zusammenfassende Darstellung dieser Ergebnisse und zahlreicher Einzelheiten, gleichzeitig abet aueh maneher ungel6ster Probleme sind yon Bierich [6] und Dhom [17] vorgenommen worden. Sehlieglich sind einige experimentelle Arbeiten aus j/ingster Zeit ffir die Erweiterung des bisherigen Wissens yon besonderer Bedeutung [16,22,25,29,31,38,54].

Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease‐related complications

“…, 1966; Gillenwater et al. , 1970; Stolecke, 1970; Hoepffner & Sandig, 1971; Wyatt et al. , 1987; Hoepffner et al.…”

“…In this publication and in our series, patients with 11-hydroxylase seem to be overrepresented, considering the low proportion of 11-hydroxylase-deficient patients among all children with CAH. While there are several case reports about single issues (Bentinck et al , 1956;Prader, 1958;Wiedemann, 1965;Weldon et al , 1966;Gillenwater et al , 1970;Stolecke, 1970;Hoepffner & Sandig, 1971;Wyatt et al , 1987; Hoepffner et al , 1988), very little has been published about growth, final height and the long-term outcome of these rare patients. In the following, we will discuss these problems systematically.…”