Synonyms
Definition
Patients with Turner syndrome (TS) are phenotypically women with 45, X0 karyotype, sexual infantilism, short stature, streak gonads, and numerous dysmorphisms known as Turnerian stigmata that affects the skeleton, soft tissues, and viscera (Saenger et al. 2001).
Clinical Features
The presence of short stature, lymphedema of hands and feet, winged neck, hairline low in the neck, and valgus ulna make suspect the diagnosis. It is confirmed with chromosomal study. The clinical picture and the reason for consultation vary with age and chromosomal abnormality. In the patients with monosomy X, and with isochromosome Xq, the following clinical findings are observed. In the newborn, perigium colli and lymphedema of hands and feet stand out. In childhood, the symptoms derived from heart disease and delayed growth. In adolescence, pubertal delay and amenorrhea occurs. In the adult woman, the diagnosis should be suspected in the presence of short...
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References and Further Reading
Cortés-Gutiérrez, E. I., Cerda-Flores, R. M., Silva-Cudish, J. B., Dávila-Rodríguez, M. I., Hernández-Herrera, R., & Leal-Garza, C. H. (2003). Evaluation of sex chromosome aneuploidies in women with Turner’s syndrome by G-banding and FISH. A serial case study. The Journal of Reproductive Medicine, 48, 804–808.
Coyle, D., Kutasy, B., Han Suyin, K., Antao, B., Lynch, S. A., McDermott, M. B., O’Connell, S. M., & Quinn, F. (2016). Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience. Journal of Pediatric Urology, 12, 283.e1–283.e7.
Karnis, M. F. (2012). Fertility, pregnancy, and medical management of Turner syndrome in the reproductive years. Fertility and Sterility, 98, 787–791.
Saenger, P., Wikland, K. A., Conway, G. S., Davenport, M., Gravholt, C. H., Hintz, R., Hovatta, O., Hultcrantz, M., Landin-Wilhelmsen, K., Lin, A., Lippe, B., Pasquino, A. M., Ranke, M. B., Rosenfeld, R., & Silberbach, M. (2001). Fifth International Symposium on Turner Syndrome. Recommendations for the diagnosis and management of Turner syndrome. The Journal of Clinical Endocrinology and Metabolism, 86, 3061–3069.
Silva-Grecco, R. L., Trovó-Marqui, A. B., Sousa, T. A., Croce, L. D., & Balarin, M. A. (2016). Identification of Y-Chromosome Sequences in Turner Syndrome. Indian Journal of Pediatrics, 83, 405–409.
Zhong, Q., & Layman, L. C. (2012). Genetic considerations in the patient with Turner syndrome–45,X with or without mosaicism. Fertil Steril, 98, 775–9
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Nistal, M., González-Peramato, P. (2019). Disorders of Sexual Development, 45, XO Gonadal Dysgenesis. In: van Krieken, J. (eds) Encyclopedia of Pathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-28845-1_4800-1
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DOI: https://doi.org/10.1007/978-3-319-28845-1_4800-1
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