Isolierter rezessiver Wachstumshormonmangel Typ 1B
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.
Gliederung
Referenzen:
| 1. |
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. [^] |
| 2. |
Salvatori R et al. (1999) Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene. [^] |
| 3. |
Gondo RG et al. (2001) Growth hormone-releasing peptide-2 stimulates GH secretion in GH-deficient patients with mutated GH-releasing hormone receptor. [^] |
| 4. |
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. [^] |
| 5. |
Wajnrajch MP et al. (1996) Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. [^] |
| 6. |
Leiberman E et al. (2000) Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. [^] |
| 7. |
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. [^] |
| 8. |
OMIM.ORG article Omim 612781 [^] |
