Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals.

Background: The clinical significance of pericentric inversion of chromosome 9 [inv (9)] remains unclear. Methods: This case control study assessed girls with short stature. According to karyotypes, the subjects were divided into inv (9) [ 46, XX, inv (9)(p12q13) and 46, XX, inv (9)(p11q13)], Turner syndrome (45, X) and control (normal 46, XX) groups, respectively. Detailed clinical features were compared. Results: Height standard deviation score (SDS) values at diagnosis were -2.51 +/- 0.58, -3.71 +/- 2.12 and -2.5 +/- 1.24 for inv (9), (45, X) and control groups, respectively (p = 0.022). The inv (9) group showed lower body mass index (BMI) values compared with the (45, X) and control groups (F = 5.097, p = 0.008). Similar growth hormone deficiency (GHD) incidences were found in all groups. Interestingly, height SDS was positively correlated with mother height and patient BMI SDS (r = 0.51, p = 0.036; r = 0.576, p = 0.023, respectively) in the inv (9) group. In the (45, X) group, height SDS was positively correlated with birth weight (r = 0.392, p = 0.039). Conclusions: Short stature in inv (9) girls was correlated with low birth weight (LBW) and mother height.