Der isolierte Wachstumshormonmangel vom Typ 2 ist eine autosomal dominante Erkrankung, welche durch Mutationen im GH1-Gen ausgelöst werden. Klinisch ist das Bild durch eine Wachstumsretardierung und eine verzögerte Knochenreife charakterisiert. Eine Substitutionsbehandlung ist erfolgreich.
1. |
Tani N et al. (1987) A family case with autosomal-dominantly inherited pituitary dwarfism. |
2. |
Hamilton J et al. (1998) Familial growth hormone deficiency associated with MRI abnormalities. |
3. |
Schober E et al. (1995) 18p monosomy with GH-deficiency and empty sella: good response to GH-treatment. |
4. |
van Gelderen HH et al. (1981) Familial isolated growth hormone deficiency. |
5. |
Butenandt O et al. (1970) [Familial hypopituitarism]. |
6. |
None (1972) Studies in high-deficient dwarfs: the type II anomaly. |
7. |
Sheikholislam BM et al. (1972) Hereditary isolated somatotropin deficiency: effects of human growth hormone administration. |
8. |
Poskitt EM et al. (1974) Isolated growth hormone deficiency. Two families with autosomal dominant inheritance. |
9. |
Sadeghi-Nejad A et al. (1974) Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome). |
10. |
Artman HG et al. (1992) 18p- syndrome and hypopituitarism. |
11. |
WARKANY J et al. (1961) Intrauterine growth retardation. |
12. |
Rona RJ et al. (1977) Aetiology of idiopathic growth hormone deficiency in England and Wales. |
13. |
Rimoin DL et al. (1966) Growth-hormone deficiency in man: an isolated, recessively inherited defect. |
14. |
Phillips JA et al. (1994) Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency. |
15. |
Shariat N et al. (2008) Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function. |
16. |
Mullis PE et al. (2005) Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study. |
17. |
OMIM.ORG article Omim 173100 |