Triple x syndrome with short stature: case report and literature review.
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.


METHODS
A 5.9 year-old girl was admitted to our hospital because of short stature. Both her height and weight were below the 3(rd) 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.


CONCLUSIONS
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.
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.
Mingyan
M
Li
Chaochun
C
Zou
Zhengyan
Z
Zhao