Klinik: 

Definition: Der isolierter Wachstumshormonmangel vom Typ 1B ist eine autosomal rezessive Erkrankung die durch Mutationen des Wachstumshormon-Gens und seines Rezeptors bedingt ist. Die klinische Ausprägung ist geringer als beim Typ 1A und das ansprechen auf eine Substitution deutlich besser.

Literatur: 

Aguiar-Oliveira MH et al. (1999) Effect of severe growth hormone (GH) deficiency due to a mutation in the GH-releasing hormone receptor on insulin-like growth factors (IGFs), IGF-binding proteins, and ternary complex formation throughout life.
Gondo RG et al. (2001) Growth hormone-releasing peptide-2 stimulates GH secretion in GH-deficient patients with mutated GH-releasing hormone receptor.
Leiberman E et al. (2000) Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency.
Menezes Oliveira JL et al. (2006) Lack of evidence of premature atherosclerosis in untreated severe isolated growth hormone (GH) deficiency due to a GH-releasing hormone receptor mutation.
Salvatori R et al. (1999) Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.
Wajnrajch MP et al. (1996) Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.
Walenkamp MJ et al. (2008) Height gain with combined growth hormone and gonadotropin-releasing hormone analog therapy in two pubertal siblings with a growth hormone-releasing hormone receptor mutation.