Short stature is characteristic for
Turner syndrome (TS) patients, and particular karyotype abnormalities of the X chromosome may be associated with different responsiveness to recombinant human GH (rhGH)
therapy. The aim of the study was to analyze the effect of different types of TS karyotype abnormalities on the response to rhGH
therapy. A total of 57 prepubertal patients with TS treated with rhGH with a 3 year follow-up were enrolled in the study and categorized according to their karyotype as X
monosomy (n = 35),
isochromosome (n = 11),
marker chromosome (n = 5), or X-mosaicism (n = 6). Height and height velocity (HV) were evaluated annually. In the first year, all groups responded well to the
therapy. In the second year, HV deteriorated significantly in X-
monosomy and
isochromosome in comparison to the remaining two groups (p = 0.0007). After 3 years of
therapy, all patients improved the score in comparison to their target height, but better outcomes were achieved in patients with
marker chromosome and X-mosaicism (p = 0.0072). X-
monosomy or
isochromosome determined a poorer response during the second and third year of rhGH
therapy. The results of the study indicate that the effects of rhGH
therapy in patients with TS may depend on the type of TS karyotype causing the syndrome.