Innovative Journal of Pediatrics
The Scientific Journal of Growth & Development Research Center
e-ISSN 3117-5341
Image Credit:Inn J Pediatr
Outline
Triple X Syndrome with Short Stature: Case Report and Literature Review
Authors
1Department of Child Health Care, Children’s Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Disease, Hangzhou, China
*Corresponding Author: Department of Child Health Care, Children’s Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Disease, Hangzhou, China Email: zhaozy@zju.edu.cn
Published online:Jun 30, 2012
Article type:Case Report
Received:Dec 28, 2010
Accepted:Jan 04, 2012
How to Cite:Zou C, Li M, Zhao Z. Triple X Syndrome with Short Stature: Case Report and Literature Review. Inn J Pediatr. 2015;22(2):. doi:
Abstract
Background: Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features and diagnosis of triple X syndrome, we present a rare phenotype of the syndrome.
Case Presentation: A 5.9 year-old girl was admitted to our hospital because of short stature. Both her height and weight were below the 3rd percentile compared to the normal peers. She was found with mild motor and speech delay. Laboratory investigation showed low level of IGF-1 and zinc, elevated estradiol level and normal result of arginine provocation test.
Conclusion: Our data suggest that triple X syndrome should also be suspected in patients with short stature, elevated estradiol and low level of IGF-1, even with normal result of arginine provocation test.
Highlights
References
- 1.References are available in PDF.
Copyright
© 2015, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
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