Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone.
genetic conditions
References
Alatzoglou KS, Dattani MT. Genetic causes and treatment of isolated growthhormone deficiency-an update. Nat Rev Endocrinol. 2010 Oct;6(10):562-76. doi:10.1038/nrendo.2010.147. Review.
Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, AylwinS, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, BanerjeeK, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE,Dattani MT. Expanding the spectrum of mutations in GH1 and GHRHR: geneticscreening in a large cohort of patients with congenital isolated growth hormonedeficiency. J Clin Endocrinol Metab. 2009 Sep;94(9):3191-9. doi:10.1210/jc.2008-2783.
Hamid R, Phillips JA 3rd, Holladay C, Cogan JD, Austin ED, Backeljauw PF,Travers SH, Patton JG. A molecular basis for variation in clinical severity ofisolated growth hormone deficiency type II. J Clin Endocrinol Metab. 2009Dec;94(12):4728-34. doi: 10.1210/jc.2009-0746.
Mullis PE. Genetic control of growth. Eur J Endocrinol. 2005 Jan;152(1):11-31.Review.
Mullis PE. Genetics of isolated growth hormone deficiency. J Clin Res Pediatr Endocrinol. 2010;2(2):52-62. doi: 10.4274/jcrpe.v2i2.52.
Seaver LH, Irons M; American College of Medical Genetics (ACMG) ProfessionalPractice and Guidelines Committee. ACMG practice guideline: genetic evaluation ofshort stature. Genet Med. 2009 Jun;11(6):465-70. doi:10.1097/GIM.0b013e3181a7e8f8. Erratum in: Genet Med. 2009 Oct;11(10):765.
Wit JM, Kiess W, Mullis P. Genetic evaluation of short stature. Best Pract ResClin Endocrinol Metab. 2011 Feb;25(1):1-17. doi: 10.1016/j.beem.2010.06.007.Review.
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?