Infantilism, Congenital Webbed Neck and Cubitus Valgus (Turner’s Syndrome)

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In 1938 Turner1 described a syndrome in women characterized by shortness of stature, sexual infantilism, congenital webbing of the neck, and cubitus valgus. None of the patients had menstruated. All had attained a height ranging from 50 inches to 56 inches. Other congenital defects were commonly associated; 2 of the original 7 cases had ocular muscle palsies. All showed evidence of severe prepuberal hypovarianism, which the author implied was entirely congenital. No hormone assays were obtained in his original cases. In 1942 Varney, Kenyon and Koch2 reported the association of short stature and primary ovarian insufficiency with an excess of urinary gonadotropins; webbed neck and cubitus valgus were not related findings. They suggested that this be called “ovarian dwarfism.” In addition, Albright, Smith and Fraser3 demonstrated excess urinary gonadotropins in cases having the features originally described by Turner. In the light of these reports, it is now recognized that certain women of short stature with sexual infantilism differ from pituitary dwarfs in a number of ways, although in the past most of them were improperly classified as having pituitary infantilism. It is the purpose of this paper to report 6 additional cases having the anatomic features of Turner’s syndrome and to distinguish between this syndrome and pituitary infantilism.

We believe that the ovarian dwarfism of Varney, Kenyon and Koch is fundamentally the same abnormality as Turner’s syndrome. The cases here reported are only those showing pronounced congenital anatomic defects, similar to those reported by Turner. In one case a congenital. . .



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