D3-GHR Polymorphism and Turner Syndrome
D3-GHR Polymorphism and Turner Syndrome
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).
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.