Short Stature, Turner Syndrome
Conditions
Keywords
growth hormone receptor polymorphism, pharmacogenomics, growth promoting therapy
Brief summary
The protein polymorphism of the growth hormone receptor characterized by the genomic deletion of exon 3 has been linked to the magnitude of the first-year-growth response to growth hormone (GH) in girls with Turner syndrome. Objective: to study the long-term effect of GH therapy in Turner syndrome in correlation to this GHR polymorphism in a mainly retrospective design (chart-review).
Interventions
Sponsors
Eligibility
Inclusion criteria
* Turner syndrome defined by a structural aberration or lack of the X chromosome. * Growth velocity less than 2 cm/year at the time of final analysis (= final height).
Exclusion criteria
* Age \<3.5 or \>14 years at start of GH therapy, * GH peak serum levels \< 8 ng/ml in two independent tests, * Thelarche at start or during the first year of treatment, * Oxandrolone therapy for any time and a duration of GH therapy less than 2 years.
Countries
Germany