Natural history of the classical form of primary growth hormone (GH) resistance (Laron syndrome).
A description of the clinical, biochemical and endocrinological features of the classical form of the syndrome of primary growth hormone (GH) resistance (Laron syndrome) is presented including the progressive changes during follow-up from infancy into adulthood. The main diagnostic features are: severe growth retardation, acromicria, small gonads and genitalia, and obesity. Serum GH levels are elevated and insulin-like growth factor-I (IGF-I) values are low and do not rise upon stimulation by exogenous hGH. The pathogenesis of this syndrome is due to various molecular defects from exon deletion to nonsense, frameshift, splice and missense mutations in the GH receptor (GH-R) gene or in its post-receptor pathways.
Laron
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Endocrinology and Diabetes Research Unit, Schneider Children's Medical Center of Israel and Sackler Faculty of Medicine, Tel Aviv University, Petah Tiqva.
D000015:Abnormalities, Multiple / Q000097:blood / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D002352:Carrier Proteins / Q000235:genetics / Q000502:physiology; D004351:Drug Resistance / Q000235:genetics; D004703:Endocrine System / Q000503:physiopathology; D005260:Female; D006130:Growth Disorders / Q000097:blood / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D019382:Human Growth Hormone / Q000097:blood / Q000235:genetics / Q000502:physiology*; D006801:Humans; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000097:blood / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D011986:Receptors, Somatotropin / Q000235:genetics / Q000502:physiology; D012741:Sexual Maturation; D013577:Syndrome
D002352:Carrier Proteins; D011986:Receptors, Somatotropin; D019382:Human Growth Hormone; C051815:somatotropin-binding protein