D3-GHR Polymorphism and Turner Syndrome

NCT00443144 | Completed

• 1 other identifier: TS-TUE-FH1
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

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).

Conditions

Turner Syndrome; Short Stature

Keywords

growth hormone receptor polymorphism; pharmacogenomics; growth promoting therapy

Interventions

recombinant human growth hormone DRUG

Eligibility Criteria

• Age: 38 Months - 14 Years
• Sex: female
• Age Groups: Child (0-17)

You may qualify if:

• 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).

You may not qualify if:

• 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.

Sponsors & Collaborators

• University Hospital Tuebingen: lead

Study Sites (1)

University-Children's Hospital

Tübingen, 72076, Germany

Location

Related Publications (1)

• Dos Santos C, Essioux L, Teinturier C, Tauber M, Goffin V, Bougneres P. A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nat Genet. 2004 Jul;36(7):720-4. doi: 10.1038/ng1379. Epub 2004 Jun 20.

  PMID: 15208626 BACKGROUND

MeSH Terms

Conditions

Turner Syndrome; Dwarfism

Interventions

Growth Hormone

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Pituitary Hormones, Anterior; Pituitary Hormones; Peptide Hormones; Hormones; Hormones, Hormone Substitutes, and Hormone Antagonists; Peptides; Amino Acids, Peptides, and Proteins

Study Officials

• Gerhard Binder, M.D. PhD

  University-Children's Hospital Tübingen

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Pediatric Endocrinology

Study Record Dates

• First Submitted: March 2, 2007
• First Posted: March 5, 2007
• Study Start: May 1, 2005
• Primary Completion: April 1, 2007
• Study Completion: May 1, 2007
• Last Updated: December 3, 2015

Record last verified: 2015-12

Locations

DE (1)