D3-GHR Polymorphism and Turner Syndrome

University Hospital Tuebingen

Status: Completed

Conditions: Turner Syndrome; Short Stature

Treatments: Drug: recombinant human growth hormone

Study type: Observational

Funder types: Other

Identifiers

NCT00443144

TS-TUE-FH1

Details and patient eligibility

About

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).

Sex: Female

Ages: 38 months to 14 years old

Volunteers: No Healthy Volunteers

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.