Turner syndrome (TS) is a chromosomal disorder that has total or partial absence of chromosome X and haploinsufficiency of the SHOX gene. Furthermore, it is associated with short stature with particular phenotype and hypogonadism. Several studies have shown that the use of recombinant human growth hormone (GH) in girls with TS raises final height. The aim of this study was to describe the characteristics of a cohort of girls with TS diagnosed and treated with GH in Colombia. A cohort of 22 girls with TS, who entered to the drug-international epidemiological record (KIGS) between 2004 and 2010 were tracked in Colombia. Girls were diagnosed with short stature and treated with GH therapy and followed-up for 2 years. Tracking measures were: the time of starting therapy, treatment regimens and clinical outcomes were estimated in terms of height measured by standard deviation units (SDS) and velocity growth in cm per year. Cohort data was compared against literature findings published for girls treated on GH with TS (Ranke MB et al 1988) and girls without GH treatment and TS (Tanner JM et al 1976). Girls started GH therapy at a mean age of 7.03 years with a dose of 0.34 mg/kg/week; and showed a median height of 110.0cms (-2.5 SDS (Tanner)) at baseline. Likewise, girls reached a median height of 117.1cms (-1.9 SDS (Tanner)) at the end of the first year and 122.5cms (-1.6 SDS (Tanner)) at the end of the second year; which represents an improvement of over 20% growth compared to girls with TS without GH therapy. Due to an earlier initiation of treatment in Colombian girls compared to global reported data (at 9.7 years), GH achieved at the end of first year height increments of 8.6cm for the Colombian cohort vsersus 7.2cm in global cohort.
Tópico:
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities