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

• Main Authors: 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
• Format: Article
• Language: English
• Published: Korean Society of Pediatric Endocrinology 2014-09-01
• Series: Annals of Pediatric Endocrinology & Metabolism
• Subjects: Turner syndrome; Growth hormone; X chromosome; Y chromosome; Genomic imprinting
• Online Access: http://e-apem.org/upload/pdf/apem-19-127.pdf
• ISSN: 2287-1012; 2287-1292

PurposeWhether 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.MethodsPaternal (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).ResultsThe 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).ConclusionThere 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).