Hostname: page-component-586b7cd67f-r5fsc Total loading time: 0 Render date: 2024-11-23T11:38:55.260Z Has data issue: false hasContentIssue false

The Syndrome of Testicular Feminization. Clinical and Cytogenetical Study in two Brothers

Published online by Cambridge University Press:  01 August 2014

G. L. Castoldi
Affiliation:
Clinica Medica, dell'Università di Ferrara
E. Puddu
Affiliation:
Clinica Ostetrica e Ginecologica dell'Università di Cagliari
U. Lecca
Affiliation:
Clinica Ostetrica e Ginecologica dell'Università di Cagliari
E. Gandini
Affiliation:
Istituto di Genetica Umana, dell'Università di Ferrara
G. D'Aloya
Affiliation:
Istituto di Genetica Umana, dell'Università di Ferrara

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The Morris syndrome of testicular feminization is described in two brothers. Cytogenetic findings show in both subjects a 46,XY karyotype in most examined metaphases and a 45,XY karyotype (due to a consistent loss of a small acrocentric) in a smaller percentage (respectively 18.7% and 28.5%). The meaning of these findings is discussed.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1968

References

Bibliografia

Alexander, D. S., Ferguson-Smith, M. A. (1961). Chromosomal studies in some variants of male pseudohermaphrodites. Pediatrics, 28: 758.Google Scholar
Assim, A. (1935). Über einen Fall von Pseudohermaphroditismus masculinus completus. Zbl. Gynäk., 59: 691.Google Scholar
Bompiani, A., De Carli, L., Nuzzo, F. (1961). Contributo dell'analisi cariologica allo studio di alcuni casi di intersessualità. Ann. Ostetr. Ginecol., 83: 681.Google Scholar
Castoldi, G. L., Yam, L. T., Mitus, W. J., Crosby, W. H. (1968). Chromosomal studies in erythroleukemia and chronic erythremic myelosis. Blood. (In press).Google Scholar
Chicago Conference (1966). Standardization in Human Cytogenetics. Birth Defects, 2: 3,.Google Scholar
Chu, E. H. Y., Warkany, J., Rosenstein, R. B. (1961). Chromosome complement in a case of « male Turner syndrome ». Lancet, 1: 786.Google Scholar
Clark, A. (1898). A case of a spurius hermaphroditism. Lancet, 1: 718.Google Scholar
Cummins, H., Midlo, C. (1961). Fingerprints, Palm and Soles. Dover Publ. Inc., New York.Google Scholar
Federman, D. D. (1967). Disorders of sexual development. Mew Engl. J. Med., 277: 351.Google Scholar
Forsberg, J. G., Hall, B., Ryden, A. B. V. (1965). A case of testicular feminization with chromosome mosaicism. Acta Obstet. Gynec. Scand., 44: 491.Google Scholar
Goldberg, M. B., Maxwell, A. F. (1948). Male pseudohermaphroditism proved by surgical exploration and microscopic examination. Case report with speculations concerning pathogenesis. J. Clin. Endocr., 8: 367.Google Scholar
Hauser, G. A., Keller, M., Koller, Th., Gloor, F. (1957). Testikuläre Feminisierung bei Erwachsenen. Schweiz Med. Wschr., 87: 1573.Google Scholar
Jacobs, P. A., Baikie, A. G., Court Brown, W. M., Forrest, H., Roy, J., Stewart, J. S., Lennox, B. (1959). Chromosomal sex in the syndrome of testicular feminization. Lancet, 2: 591.Google Scholar
Klinger, H. P., Ludwig, K. S. (1957). A universal stain for the sex chromatin body. Stain Technol., 32: 235.Google Scholar
Kochenburger, G. (1893). Die Missbildung der weiblichen Genitalien, gtschr. Geburtsh. (Stuttgart), 26: 60.Google Scholar
Kosenow, W. (1956). Untersuchungen zur hämatologischen Geschlechtsbestimmung: Kernanhangsdifferenzierung in Leukozytenkonzentrat. Aerztl. Wschr., 11: 320.Google Scholar
Kutz, S. (1898). Über einen Fall von Pseudohermaphroditismus masculinus mit Feststellung des Geschlechtes durch Extirpation eines Leistenhodens. Zbl. Gynäk., 22: 389.Google Scholar
Lejeune, J., Turpin, R., Gautier, M. (1960). Analyse caryotypique de trois pseudohermaphrodites masculins. C. R. Acad. Sci. (Paris), 250: 618.Google Scholar
Lennox, B. (1961). Chromosome counts in testicular feminization. In: Human Chromosomal Abnormalities, Staples Press, London.Google Scholar
Makino, S., Tonomura, A., Mizutani, M., Sakakura, H., Kumakiri, S., Itoga, S., Yamafuji, M. (1962). Chromosome studies in five sexually abnormal patients. Proc. Jap. Ac, 38: 31.Google Scholar
McKusick, V. A. (1964). Human Genetics. Prentice Hall, Englewood Cliffs, New Jersey.Google Scholar
Miller, O. J. (1964). The sex chromosome anomalies. Amer. J. Obstet. Gynec, 91: 1078.CrossRefGoogle Scholar
Mishell, D. R. (1938). Familial intersexuality: a report of three unusual cases. Amer. J. Obstet. Gynec, 35: 960.Google Scholar
Moorhead, P. S., Nowell, R. C., Mellman, W. J., Battips, D. M., Hungerford, D. A. (1960). Chromosome preparations of leucocytes cultured from peripheral blood. Exp. Cell Res., 20: 613.Google Scholar
Morris, J. McL. (1953). The syndrome of testicular feminization in male pseudohermaphrodites (82 cases). Amer. J. Obstet. Gynec, 65: 1192.CrossRefGoogle Scholar
Morris, J. McL., Mahesh, V. (1963). Further observations on the syndrome of « testicular feminization ». Amer. J. Obstet. Gynec, 87: 731.Google Scholar
Nilsson, I. M., Bergman, J., Reitalu, J., Waldenstrom, J. (1959). Haemophilia in a « girl » with male sex chromatin pattern. Lancet, 2: 264.Google Scholar
Pfeiffer, R. A. (1962). Contribution au problème de la variation d'expressivité du phénotype: exemples choisis d'achrocephalo-syndactylie d'Apert et du syndrome des testicules féminisants. Xe Congr. Intern. Pédiat., Lisbonne.Google Scholar
Philip, J., Trolley, D. (1965). Familial male pseudohermaphroditism with delayed and partial masculinization. Amer. J. Obstet. Gynec, 93: 1076.Google Scholar
Pion, R. J., Dignam, W. J., Lamb, E. J., Moore, J. G., Frankland, M. V., Simmer, H. H. (1965). Testicular feminization. Amer. J. Obstet. Gynec, 93: 1067.CrossRefGoogle ScholarPubMed
Pozzi, S. (1911). Neuf cas personnels de pseudohermaphroditisme. Rev. Gynec Chir. Abdom. (Paris), 16: 269.Google Scholar
Prader, A. (1957). Gonadendysgenesis und testikuläre Feminiesierung. Schweiz Med. Wschr., 87: 278.Google Scholar
Puck, T. T., Robinson, A., Tjio, J. H. (1960). Familial primary amenorrhea due to testicular feminization. A human gene affecting sex differentiation. Proc Soc. Exp. Biol. Med., 103: 192.Google Scholar
Schiller, W. (1940). Congenital and acquired sex changes. Internat. Clin. (Philadelphia), 3: 86.Google Scholar
Schultze, G. F. K. (1930). Pseudohermaphroditismus masculinus internus et externus. Zbl. Gynäk., 54: 1173.Google Scholar
Stewart, J. S. S. (1959). Testicular feminization and colour-blindness. Lancet, 2: 592.CrossRefGoogle ScholarPubMed
Stewart, J. S. S. (i960). Genetic mechanisms in human intersexes. Lancet, 1: 825.Google Scholar
Wilkins, L. (1957). The Diagnosis and Treatment of Endrocrine Disorders in Childhood and Adolescence. Charles C Thomas Publ., Springfield.Google Scholar
Witschi, E., Nelson, W. O., Segal, S. J. (1942). Genetic, developmental and hormonal aspects of gonadal dysgenesis and sex inversion in man. J. Clin. Endocrin., 2: 279.Google Scholar