Among the recent major advances in basic biologic concepts as they apply to clinical medicine, has been the awareness of genetic abnormalities as a factor in many human diseases. The development of practical methods for the study of chromosome morphology by Barr1 has stimulated an increased medical interest in clinical problems of intersex. Reliable techniques of chromosome enumeration have added to the understanding of Klinefelter's syndrome and a variety of intersex syndromes.
In an original contribution elsewhere in this issue of The Journal (p. 375) are described 2 cases of a form of gonadal dysgenesis in siblings commonly designated, testicular feminization syndrome. Other recent publications by Salassa et al.2 and Southren and Saito3 describe strikingly similar cases. It appears that such cases form a definite clinical and pathologic entity within the spectrum of gonadal dysgenesis as suggested by Morris.4
Flor and others have listed the characteristic
TESTICULAR FEMINIZATION SYNDROME. JAMA. 1962;181(5):436–437. doi:10.1001/jama.1962.03050310076016
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