No influence of parental origin of intact X chromosome and/or Y chromosome sequences on three-year height response to growth hormone therapy in Turner syndrome.

Hye Jin Lee; Hae Woon Jung; Gyung Min Lee; Hwa Young Kim; Jae Hyun Kim; Sun Hee Lee; Ji Hyun Kim; Young Ah Lee; Choong Ho Shin; Sei Won Yang

Purpose: Whether parental origin of the intact X chromosome and/or the presence of Y chromosome sequences (Yseq) play a role in three-year height response to growth hormone (GH) were investigated. Methods: Paternal (Xp) or maternal (Xm) origin of X chromosome was assessed by microsatellite marker analysis and the presence of hidden Yseq was analyzed. The first-, second-, and third-year GH response was measured as a change in height z-score (Z_Ht) in Turner syndrome (TS) patients with 45,Xp (n=10), 45,Xm (n=15), and 45,X/46,X, mar(Y) (Xm_Yseq) (n=8). Results: The mean baseline Z_Ht did not differ according to Xp or Xm origin, however the mean baseline Z_Ht was higher in the Xm_Yseq group than in Xm group, after adjusting for bone age delay and midparental Z_Ht (P=0.04). There was no difference in the height response to GH between the 3 groups. The height response to GH decreased progressively each year (P<0.001), such that the third- year increase in Z_Ht was not significant. This third-year decrease in treatment response was unaffected by Xp, Xm, and Xm_Yseq groups. Increasing GH dosage from the second to third-year of treatment positively correlated with the increase in Z_Ht (P=0.017). Conclusion: There was no evidence of X-linked imprinted genes and/or Yseq affecting height response to 3 years of GH therapy. Increasing GH dosages may help attenuate the decrease in third-year GH response in TS patients with 45,X and/or 46,X/ mar(Y).

X chromosome; Y chromosome; SOMATOTROPIN; TURNER'S syndrome; MICROSATELLITE repeats

Annals of Pediatric Endocrinology & Metabolism, 2014, Vol 19, Issue 3, p127

2287-1012

Academic Journal

10.6065/apem.2014.19.3.127