Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
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
© Copyright 2012 - Iranian Journal of Pediatrics
Triple X Syndrome with Short Stature: Case Report and Literature Review|
Li, Mingyan; Zou, Chaochun & Zhao, Zhengyan
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.
47, XXX; Insulin-Like Growth Factor-1; Sex Chromosome Aneuploidy; Short Stature; Triple X Syndrome
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