Visit Metagene.de!
Summary
HUMAN GROWTH HORMONE DEFICIENCY
GROWTH HORMONE, PITUITARY GROWTH HORMONE DEFICIENCY, ISOLATED
139250
OMIM = Online Medalian Inheritance of Men
17q22-q24

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • human growth hormone (hGH)
>100 cases
Type I: autosomal recesive
Type II: sporadic, autosomal dominant
provokative tests: 1) Insuline tolerance test (0.05 - 0.1 U/kg bw i.v.) hGH at 0, 20, 30, 45, 60, 90, 120, 150 min 2) Arginine test (0.5 g/kg bw, max 40g) hGH at 0, 30, 60, 90, 120 min 3) Combi test Insuline (0.05 - 0.1 U/kg bw i.v.) hGH at 0, 20, 30, 60, 90 min Arginine (0.5 g/kg bw in 30 min) 90 min after Insuline load hGH at 30, 45, 60, 90 min
symptoms
dentition delayed
facies, cherubic (dolls face)
growth retardation
hypoglycemia
micropenis
normal at birth
obesity
short stature
voice, high pitched
laboratory finding
Human growth hormone (hGH)0.007.0012.0015.00-Ág/lplasma
Glucose0.503.002.805.00mmol/lserum
Insulin-like growth factor I(IGF-I) 0.100.1095.00percentileserum
Insulin-like growth factor binding protein 3 (IGFBP-3) 5.005.0095.00percentileserum
growth hormone, spontaneous secretion
Human growth hormone (hGH)
Literature
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994