Clinical feature: 

Definition: The disease is characterised by dwarfism due to growth hormone deficiency, which is remediable by GH substitution.

Epidemiology: In Denmark an incidence of childhood growth hormone deficiency has been determined. It is 2.58 in males and 1,70 in females per 100,000. Of course, not all of these cases can be contributed to isolated growth hormone deficiency type II.

Diagnostics: 

Differential: To differentiate between GH deficiency and GH receptor dysfunction, it's required to measure GH exact level. GH therapy can not be expected to be efficient in GH receptor defects. Because measuring GH levels can often lead to ambiguous results, molecular genetic analysis might be quite helpful.

Literature: 

Millar DS et al. (2003) Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.
Takahashi Y et al. (1996) Brief report: short stature caused by a mutant growth hormone.
Binder G et al. (2001) Isolated GH deficiency with dominant inheritance: new mutations, new insights.
Binder G et al. (2002) Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin.
Stochholm K et al. (2006) Incidence of GH deficiency - a nationwide study.