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).

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Key information

Conditions

Turner Syndrome Bone Diseases Bone Diseases, Developmental Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Dwarfism Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Gonadal Dysgenesis Heart Defects, Congenital Heart Diseases Male Urogenital Diseases Musculoskeletal Diseases Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Short Stature Urogenital Abnormalities Urogenital Diseases

Age range

38 month–14 year

Sex eligibility

Female

Study type

Observational

Primary location

University-Children's Hospital

Tübingen, 72076, Germany

Who can participate

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Recombinant human growth hormone

Drug

Sponsors and collaborators

Lead sponsor

University Hospital Tuebingen

Other

Registry information

Official study title

D3-Growth Hormone Receptor Polymorphism and Total Effect of Recombinant Human Growth Hormone on Growth in Girls With Turner Syndrome

Important dates

Study start: 2005
Primary completion: 2007
Study completion: 2007
First posted: Mar 5, 2007
Registry last updated: Dec 3, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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