İdiyopatik Boy Kısalığı

Feyza Darendeliler; Banu Küçükemre Aydın; Firdevs Baş

doi:10.5222/j.child.2011.147

İdiyopatik Boy Kısalığı

Yıl 2011, Cilt: 11 Sayı: 4, 147 - 150, 01.10.2011

Feyza Darendeliler Banu Küçükemre Aydın Firdevs Baş

https://doi.org/10.5222/j.child.2011.147

Öz

İdiyopatik boy kısalığı İBK , boyun - 2 standart deviasyon skorunun SDS altında olması ve altta yatan herhangi bir hastalığın olmamasıdır. Ailevi boy kısalığı ve ailevi olma- yan boy kısalığı olarak iki gruba ayrılır. İBK patofizyoloji- si çok geniş ve heterojendir. Boy kısalığı nedenleri açısın- dan uygun değerlendirmeler yapılıp, İBK tanısı ile takip edilmeye başlanan çocuklar için çok yönlü tedavi protokol- leri denenmekte ve olumlu sonuçlar alınabilmektedir

Anahtar Kelimeler

İdiyopatik boy kısalığı, ailevi boy kısalığı, ailevi olmayan boy kısalığı

Kaynakça

1. Ranke MB. Towards a consensus on the definition of idiopathic short stature. Horm Res 1996;45(Suppl. 2):64-6. http://dx.doi.org/10.1159/000184851 PMid:8805048
2. Bryant J, Baxter L, Cave C, Milne R. Recombinant growth hormone for idiopathic short stature in children and adolescents. Cochrane Database Syst Rev 2007; CD004440. PMid:17636758
3. Wit JM, Ranke MB, Kelnar CJH. ESPE classification of paediatric endocrine diagnosis. Horm Res 2007;68(Suppl. 2):1-120.
4. Pedicelli S, Peschiaroli E, Violi E, Cianfarani S. Controversies in the definition and treatment of idiopathic short stature. J Clin Res Ped Endo 2009;1(3):105-15.
5. Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, Cohen P. Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Horm IGF Res 2008;18:89-110. http://dx.doi.org/10.1016/j.ghir.2007.11.004
6. Savage MO, Blum WF, Ranke MB, Postel-Vinay MC, Cotterill AM, Hall K, et al. Clinical features and endocrine status in patients with growth hormone insensitivity. J Clin Endocrinol Metab 1993;77:1465-71. http://dx.doi.org/10.1210/jc.77.6.1465
7. Pantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, et al. Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. J Clin İnvest 2006;116:760-8. http://dx.doi.org/10.1172/JCI25303 PMid:16511605 PMCid:1386106
8. Besson A, Salemi S, Deladoe¨y J, Vuissoz JM, Eble´ A, Bidlingmaier M, et al. Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). J Clin Endocrinol Metab 2005;90(5):2493-9. http://dx.doi.org/10.1210/jc.2004-1838
9. Tiulpakov A, Rubtsov P, Dedov I, Peterkova V, Bezlepkina O, Chrousos GP, et al. A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT-3 signaling. J Clin Endocrinol Metab 2005;90(1):542-7. http://dx.doi.org/10.1210/jc.2003-2133
10. Kofoed EM, Hwa V, Little B, Woods KA, Buckway CK, Tsubaki J, et al. Growth hormone insensitivity associated with a STAT5b mutation. N Engl J Med 2003;349:1139-47. http://dx.doi.org/10.1056/NEJMoa022926 PMid:13679528
11. Woods KA, Camacho-Hübner C, Savage MO, Clark AJ. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin like growth factor 1 gene. N Engl J Med 1996;335:1363-7. http://dx.doi.org/10.1056/NEJM199610313351805 PMid:8857020
12. Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, et al. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med 2003;349:2211-22. http://dx.doi.org/10.1056/NEJMoa010107 PMid:14657428
13. Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, et al. Deletions of the homeobox gene SHOX (Short Stature Homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 2002;87(3):1402-6. http://dx.doi.org/10.1210/jc.87.3.1402
14. Cohen P. Understanding idiopathic short stature. Highlights 2007;15(1):2-4.
15. Cohen P, Rogol AD, Deal CL, Saenger P, Reiter EO, Ross JL, et al. Consensus statement on the diagnosis and treatment of children with idiopathic short stature: A summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. J Clin Endocrinol Metab 2008;93:4210-7. http://dx.doi.org/10.1210/jc.2008-0509
16. Chernausek SD, Backeljaww PF, Frane J, Kuntze J, Underwood LE. Growth Hormone Insensivity Syndrome Collaborative Group long term treatment with recombinant insulin-like growth factor (IGF)- 1 in children with severe IGF-1 deficiency due to growth hormone insensivity. J Clin Endocrinol Metab 2007;92:902-10. http://dx.doi.org/10.1210/jc.2006-1610

Idiopathic Short Stature

Yıl 2011, Cilt: 11 Sayı: 4, 147 - 150, 01.10.2011

Feyza Darendeliler Banu Küçükemre Aydın Firdevs Baş

https://doi.org/10.5222/j.child.2011.147

Öz

Idiopathic short stature ISS refers to the condition where the height is below-2 standard deviation score SDS wit- hout any underlying disease. It may be divided in two gro- ups as familial short stature and non-familial short stature. The pathophysiology of ISS is multifaceted and very hete- rogeneous. Following appropriate evaluations, children with ISS can be treated with a multifaceted treatment pro- tocol and satisfactory results can be achieved

Anahtar Kelimeler

Idiopathic short stature, familial short stature, non-familial short stature

Kaynakça

1. Ranke MB. Towards a consensus on the definition of idiopathic short stature. Horm Res 1996;45(Suppl. 2):64-6. http://dx.doi.org/10.1159/000184851 PMid:8805048
2. Bryant J, Baxter L, Cave C, Milne R. Recombinant growth hormone for idiopathic short stature in children and adolescents. Cochrane Database Syst Rev 2007; CD004440. PMid:17636758
3. Wit JM, Ranke MB, Kelnar CJH. ESPE classification of paediatric endocrine diagnosis. Horm Res 2007;68(Suppl. 2):1-120.
4. Pedicelli S, Peschiaroli E, Violi E, Cianfarani S. Controversies in the definition and treatment of idiopathic short stature. J Clin Res Ped Endo 2009;1(3):105-15.
5. Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, Cohen P. Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Horm IGF Res 2008;18:89-110. http://dx.doi.org/10.1016/j.ghir.2007.11.004
6. Savage MO, Blum WF, Ranke MB, Postel-Vinay MC, Cotterill AM, Hall K, et al. Clinical features and endocrine status in patients with growth hormone insensitivity. J Clin Endocrinol Metab 1993;77:1465-71. http://dx.doi.org/10.1210/jc.77.6.1465
7. Pantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, et al. Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. J Clin İnvest 2006;116:760-8. http://dx.doi.org/10.1172/JCI25303 PMid:16511605 PMCid:1386106
8. Besson A, Salemi S, Deladoe¨y J, Vuissoz JM, Eble´ A, Bidlingmaier M, et al. Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). J Clin Endocrinol Metab 2005;90(5):2493-9. http://dx.doi.org/10.1210/jc.2004-1838
9. Tiulpakov A, Rubtsov P, Dedov I, Peterkova V, Bezlepkina O, Chrousos GP, et al. A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT-3 signaling. J Clin Endocrinol Metab 2005;90(1):542-7. http://dx.doi.org/10.1210/jc.2003-2133
10. Kofoed EM, Hwa V, Little B, Woods KA, Buckway CK, Tsubaki J, et al. Growth hormone insensitivity associated with a STAT5b mutation. N Engl J Med 2003;349:1139-47. http://dx.doi.org/10.1056/NEJMoa022926 PMid:13679528
11. Woods KA, Camacho-Hübner C, Savage MO, Clark AJ. Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin like growth factor 1 gene. N Engl J Med 1996;335:1363-7. http://dx.doi.org/10.1056/NEJM199610313351805 PMid:8857020
12. Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, et al. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. N Engl J Med 2003;349:2211-22. http://dx.doi.org/10.1056/NEJMoa010107 PMid:14657428
13. Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, et al. Deletions of the homeobox gene SHOX (Short Stature Homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 2002;87(3):1402-6. http://dx.doi.org/10.1210/jc.87.3.1402
14. Cohen P. Understanding idiopathic short stature. Highlights 2007;15(1):2-4.
15. Cohen P, Rogol AD, Deal CL, Saenger P, Reiter EO, Ross JL, et al. Consensus statement on the diagnosis and treatment of children with idiopathic short stature: A summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. J Clin Endocrinol Metab 2008;93:4210-7. http://dx.doi.org/10.1210/jc.2008-0509
16. Chernausek SD, Backeljaww PF, Frane J, Kuntze J, Underwood LE. Growth Hormone Insensivity Syndrome Collaborative Group long term treatment with recombinant insulin-like growth factor (IGF)- 1 in children with severe IGF-1 deficiency due to growth hormone insensivity. J Clin Endocrinol Metab 2007;92:902-10. http://dx.doi.org/10.1210/jc.2006-1610

Toplam 16 adet kaynakça vardır.

Ayrıntılar

Birincil Dil	Türkçe
Bölüm	Araştırma Makaleleri
Yazarlar	Feyza Darendeliler Bu kişi benim Banu Küçükemre Aydın Bu kişi benim Firdevs Baş Bu kişi benim
Yayımlanma Tarihi	1 Ekim 2011
Yayımlandığı Sayı	Yıl 2011 Cilt: 11 Sayı: 4

Kaynak Göster

APA	Darendeliler, F., Küçükemre Aydın, B., & Baş, F. (2011). İdiyopatik Boy Kısalığı. Çocuk Dergisi, 11(4), 147-150. https://doi.org/10.5222/j.child.2011.147
AMA	Darendeliler F, Küçükemre Aydın B, Baş F. İdiyopatik Boy Kısalığı. Çocuk Dergisi. Ekim 2011;11(4):147-150. doi:10.5222/j.child.2011.147
Chicago	Darendeliler, Feyza, Banu Küçükemre Aydın, ve Firdevs Baş. “İdiyopatik Boy Kısalığı”. Çocuk Dergisi 11, sy. 4 (Ekim 2011): 147-50. https://doi.org/10.5222/j.child.2011.147.
EndNote	Darendeliler F, Küçükemre Aydın B, Baş F (01 Ekim 2011) İdiyopatik Boy Kısalığı. Çocuk Dergisi 11 4 147–150.
IEEE	F. Darendeliler, B. Küçükemre Aydın, ve F. Baş, “İdiyopatik Boy Kısalığı”, Çocuk Dergisi, c. 11, sy. 4, ss. 147–150, 2011, doi: 10.5222/j.child.2011.147.
ISNAD	Darendeliler, Feyza vd. “İdiyopatik Boy Kısalığı”. Çocuk Dergisi 11/4 (Ekim 2011), 147-150. https://doi.org/10.5222/j.child.2011.147.
JAMA	Darendeliler F, Küçükemre Aydın B, Baş F. İdiyopatik Boy Kısalığı. Çocuk Dergisi. 2011;11:147–150.
MLA	Darendeliler, Feyza vd. “İdiyopatik Boy Kısalığı”. Çocuk Dergisi, c. 11, sy. 4, 2011, ss. 147-50, doi:10.5222/j.child.2011.147.
Vancouver	Darendeliler F, Küçükemre Aydın B, Baş F. İdiyopatik Boy Kısalığı. Çocuk Dergisi. 2011;11(4):147-50.