Background: Turner syndrome (TS) is due to complete or partial deletion of an X chromosome. The most common clinical features encountered in TS patients were short stature and primary amenorrhea.
Objective and hypotheses: The purpose of this study was to investigate the causes of short stature in TS.
Method: 86 patients with TS were diagnosed by karyotypes from 2004 to 2013, the karyotypes distribution were as follows: 64 patients with total haploinsufficiency of the short arm of chromosome X, 18 patients with partly haploinsufficiency of the short arm of chromosome X, and four patients without haploinsufficiency of the short arm of chromosome X. All patients received GH stimulated test, 47 patients were GH deficiency (GHD) and 39 patients were normal. All patients detected IGF1, and divided into three groups according to different IGF1 level. 86 patients divided into two groups according to thyroid function.
Results: Ht SDS in three groups according to the deletion of the X chromosome short arm were (−4.39±1.08), (−3.26±1.25), and (−2.84±0.15) (P<0.05). The proportion of GHD in the three groups were 62.5, 38.9, and 0% (P<0.05). Ht SDS of different IGF1 degree groups were (−4.37±1.10), (−3.82±1.07), and (−3.25±0.91) (P<0.05). Ht SDS in GHD group and non-GHD group were (−4.24±1.00) and (−4.02±1.32) (P>0.05). Ht SDS of hypothyroidism group was not different from the non-hypothyroidism group (P>0.05).
Conclusion: The deletion of X chromosome short arm may induce the short stature in TS. The GHIGF1 axis in TS was impaired but GHD and hypothyroidism were not related to degree of short stature in TS.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology