Disorders of the Sex Chromosomes: Medical Overview
In 1938 Doctor Henry Turner described 7 patients with short stature, sexual infantilism, and a wide-carrying angle at the elbow (cubitus valgus) (Turner, 1938). The original pathologic diagnosis in Turner syndrome was noted to be gonadal dysgenesis, with fibrous streaks replacing normal ovarian tissue (Wilkens & Fleishmann, 1954). The missing X chromosome was discovered by Barr in 1959 (Ford et al., 1959). The most common features constituting the phenotype of females with Turner syndrome are short stature, sexual infantilism, and gonadal dysgenesis. A group of associated characteristic features have also been described and are detailed below.
KeywordsEstrogen Osteoporosis Testosterone Progesterone Androgen
Unable to display preview. Download preview PDF.
- Baudier, M.M., Chilhal, H.J., & Dickey, R.P. (1985). Pregnancy and reproductive function in a patient with nonmosaic Turner syndrome. Obstetrics and Gynecology (Suppl), 65, 605.Google Scholar
- Becker, K.L. (1972). Clinical and therapeutic experiences with Klinefelter’s syndrome. Fertility Sterility, 23, 568.Google Scholar
- Cuttler, L., Van Vliet, G., Conte, F.A., Kaplan, S.L., & Grumbach, M.M. (1980). Somatomedin C levels in children and adolescents with gonadal dysgenesis: Differences from age matched normal females and effect of chronic estrogen replacement therapy. Journal of Clinical Endocrinology and Metabolism, 60, 1087.CrossRefGoogle Scholar
- Hall, J. (1987). Turner syndrome: an update. Growth, genetics, and hormones (p. 4). Biomedical Information Corporation.Google Scholar
- Litvak, A.S., Rousseau, T.G, Wrede, L.D., et al. (1978). The association of significant renal anomalies with Turner’s syndrome. Journal of Urology, 120, 611.Google Scholar
- Lucky, A.W., Marynick, S.P., Rebar, R.W., Cutler, G.B., Jr., Glenn, M., John-sonbaugh, R.E., & Loriaux, D.L. (1979). Replacements oral ethinyloestradiol therapy for gonadal dysgenesis: Growth and adrenal androgen studies. Acta Endocrinol Logica, 91, 519.Google Scholar
- Ullrich, O. (1949). Turner syndrome and status Bonne vie Ullrich. American Journal of Human Genetics, 1, 179.Google Scholar
- Urban, M.D., Lee, P. A., Dorst, J.T., et al. (1979). Oxandrolone therapy in patients with Turner’s syndrome. Journal of Pediatrics, 94, 829.Google Scholar
- Welch, J.P. (1985). The Y chromosome, part B, clinical aspects of Y chromosome abnormalities (pp. 323–343). New York: Alan R. Liss, Inc.Google Scholar
- Wilkins, L., & Fleishmann, W. (1954). Ovarian agenesis: Pathology, associated clinical symptoms and the bearing on the theories of sex differentiation. Journal of Clinical Endocrinology, 4, 1270.Google Scholar