Seok Ho Yoon, Dong Jun Lee, Son Moon Shin, So Young Yoon, Sung Won Park

Show more
Department of Pediatrics, Cheil General Hospital and Women’s Healthcare Center, College of Medicine, Dankook University, Seoul, Korea.
Show less

Abstract: Turner syndrome (TS) is a relatively common chromosomal disorder caused by complete or partial X monosomy. The most frequently observed karyotype, 45, X, arises more often by loss of the paternal X or Y chromosome in meiosis or in early embryogenesis than by loss of the maternal X chromosome. The main clinical features of TS are short stature, gonadal dysgenesis, and not to undergo pubertal development (e.g. primary amenorrhea). However, a few rare cases of TS have shown precocious puberty. Our case of a 9-year-old girl did not have any TS-specific clinical hallmarks, with the exception of short stature. She visited our clinic because of her pubertal development and short stature. In this report, we highlight the variability that can occur in patients with TS and emphasizes the need to carefully assess unusual growth patterns in any child, regardless of other underlying conditions.

Keywords: Turner Syndrome, Early Pubertal Development

Cite this paper: Yoon, S. , Jun Lee, D. , Shin, S. , Yoon, S. and Park, S. (2016) A New Case of Turner Syndrome with Early Pubertal Development. International Journal of Clinical Medicine, 7, 342-346. doi: 10.4236/ijcm.2016.75036.

References

[1]   Stochholm, K., Juul, S., Juel, K., Naeraa, R.W. and Gravholt, C.H. (2006) Prevalence, Incidence, Diagnostic Delay, and Mortality in Turner Syndrome. Journal of Clinical Endocrinology & Metabolism, 91, 3897-902.
http://dx.doi.org/10.1210/jc.2006-0558

[2]   Davenport, M.L. (2010) Approach to the Patient with Turner Syndrome. Journal of Clinical Endocrinology & Metabolism, 95, 1487-1495.
http://dx.doi.org/10.1210/jc.2009-0926

[3]   Donaldson, M.D., Gault, E.J., Tan, K.W. and Dunger, D.B. (2006) Optimising Management in Turner Syndrome: From Infancy to Adult Transfer. Archives of Disease in Childhood, 91, 513-520.
http://dx.doi.org/10.1136/adc.2003.035907

[4]   Bondy, C.A. (2007) Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group. Journal of Clinical Endocrinology & Metabolism, 92, 10-25.
http://dx.doi.org/10.1210/jc.2006-1374

[5]   Ogata, T., Muroya, K., Matsuo, N., Shinohara, O., Yorifuji, T., Nishi, Y., et al. (2001) Turner Syndrome and Xp Deletions: Clinical and Molecular Studies in 47 Patients. Journal of Clinical Endocrinology & Metabolism, 86, 5498-5508.
http://dx.doi.org/10.1210/jcem.86.11.8058

[6]   Trovo de Marqui, A.B. (2015) [Turner Syndrome and Genetic Polymorphism: A Systematic Review]. Revista Paulista de Pediatria, 33, 364-371.
http://dx.doi.org/10.1016/j.rppede.2015.06.001

[7]   Hassold, T. and Hunt, P. (2001) To Err (Meiotically) Is Human: The Genesis of Human Aneuploidy. Nature Reviews Genetics, 2, 280-291.
http://dx.doi.org/10.1038/35066065

[8]   Massa, G., Verlinde, F., De Schepper, J., Thomas, M., Bourguignon, J.P., Craen, M., et al. (2005) Trends in Age at Diagnosis of Turner Syndrome. Archives of Disease in Childhood, 90, 267-268.
http://dx.doi.org/10.1136/adc.2004.049817

[9]   Ogata, T. and Matsuo, N. (1995) Turner Syndrome and Female Sex Chromosome Aberrations: Deduction of the Principal Factors Involved in the Development of Clinical Features. Human Genetics, 95, 607-629.
http://dx.doi.org/10.1007/BF00209476

[10]   Ross, J.L., Roeltgen, D., Kushner, H., Wei, F. and Zinn, A.R. (2000) The Turner Syndrome-Associated Neurocognitive Phenotype Maps to Distal Xp. American Journal of Human Genetics, 67, 672-681.
http://dx.doi.org/10.1086/303039

[11]   Improda, N., Rezzuto, M., Alfano, S., Parenti, G., Vajro, P., Pignata, C., et al. (2012) Precocious Puberty in Turner Syndrome: Report of a Case and Review of the Literature. Italian Journal of Pediatrics, 38, 54.
http://dx.doi.org/10.1186/1824-7288-38-54

[12]   Sandal, G. and Pirgon, O. (2014) Precocious Puberty in a Patient with Mosaic Turner Syndrome. Genetic Counseling, 25, 183-187.

[13]   Sabin, M.A. and Zacharin, M.R. (2007) Precocious Puberty in Turner Syndrome. Journal of Paediatrics and Child Health, 43, 776-778.
http://dx.doi.org/10.1111/j.1440-1754.2007.01219.x

[14]   Baek, J.U., Park, H.K., Shim, E.J. and Hwang, I.T. (2012) Precocious Puberty in Turner Syndrome Variant. Journal of Pediatric & Adolescent Gynecology, 25, e113-e114.
http://dx.doi.org/10.1016/j.jpag.2012.05.017

[15]   Evanchec, K.A. and Rotenstein, D. (2005) Treatment of Precocious Puberty in Two Patients with Turner Mosaicism. Journal of Clinical Endocrinology & Metabolism, 18, 819-822.
http://dx.doi.org/10.1515/JPEM.2005.18.8.819

[16]   Huseman, C.A. (1983) Mosaic Turner Syndrome with Precocious Puberty. Journal of Pediatrics, 102, 892-894.
http://dx.doi.org/10.1016/S0022-3476(83)80021-3

[17]   Ranke, M.B., Pfluger, H., Rosendahl, W., Stubbe, P., Enders, H., Bierich, J.R., et al. (1983) Turner Syndrome: Spontaneous Growth in 150 Cases and Review of the Literature. European Journal of Pediatrics, 141, 81-88.
http://dx.doi.org/10.1007/BF00496795