Influence of Growth Hormone (GH) Receptor Deletion of Exon 3 and Full-Length Isoforms on GH Response and Final Height in Patients with Severe GH Deficiency | Zendy

Barbara Räz | Zendy; Marco Janner | Zendy; Vibor Petkovic | Zendy; Didier Lochmatter | Zendy; Andrée Eblé | Zendy; Mehul Dattani | Zendy; Peter C. Hindmarsh | Zendy; Christa E. Flück | Zendy; Primus E. Mullis | Zendy

Open Access

Influence of Growth Hormone (GH) Receptor Deletion of Exon 3 and Full-Length Isoforms on GH Response and Final Height in Patients with Severe GH Deficiency

Author(s) -

Barbara Räz,

Marco Janner,

Vibor Petkovic,

Didier Lochmatter,

Andrée Eblé,

Mehul Dattani,

Peter C. Hindmarsh,

Christa E. Flück,

Primus E. Mullis

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-1382

Subject(s) - growth hormone receptor , medicine , endocrinology , genotype , context (archaeology) , exon , allele , growth hormone deficiency , biology , growth hormone , gene , hormone , genetics , paleontology

A polymorphism of the GH receptor (GHR) gene resulting in genomic deletion of exon 3 (GHR-d3) has been associated with responsiveness to GH therapy. However, the data reported so far do vary according to the underlying condition, replacement dose, and duration of the treatment. OBJECTIVE, DESIGN: The aim of this study was to analyze the impact of the GHR genotypes in terms of the initial height velocity (HV) resulting from treatment and the impact upon adult height in patients suffering from severe isolated GH deficiency. CONTROLS, PATIENTS, SETTING: A total of 181 subjects (peak stimulated GH<or=2 ng/ml) were studied. In addition, GHR genotype frequency was compared with a healthy adult control group.

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