ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (IGHD1A)

Question 1

What is  ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (IGHD1A)?

Accepted Answer

>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

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Wachstumshormonmangel, isolierter, Typ IA

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 262400

Question 4

Which enzymes are involved?

Accepted Answer

Somatotropin

Disease	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA (IGHD1A)
Synonym	IGHD IA; PRIMORDIAL DWARFISM
OMIM	262400 OMIM = Online Mendelian Inheritance of Men
Orphanet	231662
Protein (UniProt)	Somatotropin
Gene locus	17q23.3
ICD	E23.0
Summary	>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