Triple X Syndrome with Short Stature: Case Report and Literature Review

authors:

avatar Chaochun Zou 1 , avatar Mingyan Li 1 , avatar Zhengyan Zhao 1 , *

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
Iranian Journal of Pediatrics: Vol.22, issue 2; 269-273
published online: June 30, 2012
article type: Case Report
received: December 28, 2010
accepted: January 04, 2012

how to cite: Zou C, Li M, Zhao Z. Triple X Syndrome with Short Stature: Case Report and Literature Review. Iran J Pediatr. 2012;22(2): 269-273. 

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.
 

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