ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (IGHD1A) | |
IGHD IA; PRIMORDIAL DWARFISM | |
262400
OMIM = Online Mendelian Inheritance of Men | |
231662 | |
Somatotropin | |
17q23.3 |
|
E23.0 | |
>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 | |
Laboratory findings | D-Glucose dec (serum) growth hormone, spontaneous secretion () Human growth hormone (hGH) dec (plasma) Insulin-like growth factor binding protein 3 (IGFBP-3) (serum) Insulin-like growth factor I(IGF-I) (serum) |
Symptoms | facies, cherubic (dolls face) growth retardation, poor growth hypoglycemia micropenis normal at birth obesity onset, childhood short stature voice, high pitched |