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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 22, No. 2, 2012, pp. 269-273
Bioline Code: pe12048
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 22, No. 2, 2012, pp. 269-273

 en Triple X Syndrome with Short Stature: Case Report and Literature Review
Li, Mingyan; Zou, Chaochun & Zhao, Zhengyan

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.

Keywords
47, XXX; Insulin-Like Growth Factor-1; Sex Chromosome Aneuploidy; Short Stature; Triple X Syndrome

 
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