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.
10.6065/apem.2014.19.3.127
- Author:
Hye Jin LEE
1
;
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
Author Information
1. Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea. nina337@snu.ac.kr
- Publication Type:Original Article
- Keywords:
Turner syndrome;
Growth hormone;
X chromosome;
Y chromosome;
Genomic imprinting
- MeSH:
Genomic Imprinting;
Growth Hormone*;
Humans;
Microsatellite Repeats;
Parents*;
Turner Syndrome*;
X Chromosome*;
Y Chromosome*
- From:Annals of Pediatric Endocrinology & Metabolism
2014;19(3):127-134
- CountryRepublic of Korea
- Language:English
-
Abstract:
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).
