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Endokrin Polikliniğine Boy Kısalığı Yakınması İle Başvuran Kronik Sistemik Hastalığı Olmayan Olguların Antropometrik Ve Tanısal Özellikleri

Year 2009, Volume: 3 Issue: 4, 23 - 33, 01.04.2009

Abstract

Amaç: Bu çalışmada Ankara Üniversitesi Tıp Fakültesi Pediatrik Endokrinoloji polikliniğine boy kısalığı nedeni ile başvuran, kronik sistemik hastalığı olmayan olguların antropometrik özelliklerinin değerlendirilmesi genetik boy potansiyelinden negatif sapma derecelerinin saptanması, boy kısalığı derecelerine göre tanısal özelliklerinin belirlenmesi ve idyopatik kısaların sınıflandırmadaki yerlerinin irdelenmesi amaçlanmıştır.Olgular ve Yöntem: Endokrin polikliniğimize başvuran, kronik sistemik hastalığı olmayan 200 olgu boy kısalığının derecesi dikkate alınmadan toplu olarak ( I. Aşama ) ve boy kısalığı derecesi dikkate alınarak (II. Aşama) iki aşamada antropometrik özellikleri ve tanısal dağılımları bakımından değerlendirildiler. Boy kısalığının derecesine göre olgular hafif ( boydaki sapma -2 SD ya da daha az ), orta ( -2.1 ile – 2.99 SD arası ), ve ağır ( -3 SD ya da daha fazla ) olmak üzere 3 gruba ayrıldı.Bulgular: I. Aşama: Olgular bize geç (10.61 ± 3.42 yıl), boydaki negatifleşme ilerlemiş (-2.94 ± 1.12 SD), ve boyları genetik potansiyellerine göre belirgin olarak gerilemiş olarak başvurmuşlardı. Antropometrik bakımdan homojen bir görünüm sergilemeyen idyopatik kısalar normal variant idyopatik ve patolojik idyopatik olarak subgruplandırıldığında olgularımızın % 33.5’i normal variant kısalık (% 9.5’i kalıtsal kısa, %19’i yapısal kısa, % 5’i normal variant idyopatik kısa), % 66.5’si patolojik kısalık ( % 62’si sebebi belirlenebilenler ve % 4.5’u sebebi saptanamayan patolojik idyopatik kısalar) özelliği gösterdi.II Aşama: Boydaki negatif sapmanın derecesine göre olgular % 12.5 oranında hafif derecede kısalık, % 51.5 oranında orta derecedeki kısalık, % 36 oranında ise ağır derecede kısalık gösteriyorlardı. Boyun genetik potansiyelden geri oluşu hafif derecedeki kısalarda % 40, orta derecedeki kısalarda % 72, ağır derecedeki kısalarda ise % 93 oranında saptandı. Hafif derecedeki kısalıkların % 72’sini normal variant, %28’ini patolojik kısalıklar; Orta dereceki kısalıkların %47.4’i normal variant, %52.6’ini patolojik kısalıklar; Ağır kısalıkların ise %100’nü patolojik kısalıklar oluşturuyordu. Büyüme hormonu eksikliğinin hafif derecedeki kısalar da dahil olmak üzere her 3 kısalık derecesinde de saptanabildiği gözlendi.Sonuç: Çocuk Endokrin poliklinik materyalinde boy kısalığının etyolojik dağılımları, normal populasyon için verilen oranlara uygunluk göstermiyordu orta ve ağır derecedeki kısalıklar olguların %87.5’i gibi büyük bir bölümü oluşturduğundan, patolojik kısalıkların sıklık bakımından normal variant kısalıkların önüne geçtiği gözlendi. Normal variant ve patolojik kısalıkların dağılımı sadece hafif derecedeki kısalıklarda normal toplum örneğini gösterdi. İdyopatik kısaların homogen bir grup oluşturmadıkları, tüm olguların salt normal varıant kısalar ya da patolojik kısalar içinde değerlendirilmesinin olası olmadığı dikkati çekti. Bu nedenle idiyopatik kısalar normal variant idyopatik ve patolojik idyopatik olarak subgruplandırıldı. Boyun genetik potansiyele uyumunun denetimi özellikle hafif boy sapması olan olgularda uyarıcı önemli ipuçları verdi. Kısa çocukların yorumlanmasında boy sapmasının yanısıra boyun genetiğe uyumunun da denetlenmesi henüz boy sapmasının belirginleşmediği erken dönemlerde önemli patolojilerin yakalanması bakımından dikkate alınması gereken bir antropometrik ölçüt özelliği gösterdi.

References

  • Günöz H. Büyüme bozuklukları. İçinde:Günöz H, Öcal G, Yor- dam N, Kurtoğlu S. Pediatrik Endokrinoloji ve Oksoloji Yayınları , Ankara. Kalkan Matbacılık 2003:65-136.
  • Günöz H. Boy kısalıkları. (eds) Neyzi O, Ertuğrul T. T.Pediatri. İstanbul: Nobel Tıp Kitabevleri 2002;120-131.
  • American Academy of Pediatrics Policy Statement-Comitee on Practice and Ambulatory Medicine. Recommendations for pre- ventive pediatric health care. Pediatrics 2000; 105:645.
  • O.Neyzi,P Binyıldız, H Alp. Türk çocuklarında büyüme gelişme normları. İst.Tıp. Fak. Mecm 1978;41:74,
  • Reiter EO and Rosenfeld RG. Normal and abberant growth İn: Wilson JD, Foster DW, Kronenberg HM and Larsen PR (eds). Williams Textbook of Endokrinology (9th ed). Philadelphia: W.B. Saunders Co 1998: 1427-1505
  • Rosenfeld RL and Cuttler L. Somatic growth and maturation In: DeGroot LJ and Jameson Jl (eds). Endocrinology Philadelhia: W.B. Saunders Co 2001: 477-500
  • MacGillivary MH. Disorders of growth and development İn: Fe- lig P and Frohman LA (eds). Endocrinology & Metabolism . New York: McGrawHill, İnc 2001:1265-1316
  • Lifshitz F, Cervantes CD. Short stature In: Liftshitz (ed) Pediatric Endocrinology (3rd ed) New York. Marcel Dekker İnc 1996:1
  • Darendeliler F. Boy Kısalığına Yaklaşım. Sürekli Tıp Eğitim Der- gisi 1995;4;5: 153 - 158.
  • Ranke MB. Towards a concensus on the definition of idiopathic short stature: Horm. Res 1996;45;64-66.
  • Rosenfeld GR. Disorders of growth hormone and insulin-like growth faktor secretion and action. In: Speling MA (ed). Pediatric Endocrinology (2nd ed) Pennsylvania: W.B. Saunders Company :117-1169.
  • Saenger P. İdiopathic short stature is not always idiopathic. Acta Pediatr 1999; 428: 184-188.
  • Goddard AD, Covello R. Attie KM. Mutations of the GHR- gene in children with idiopathic short stature. New Engl. J. Med ;33:1093-1098.
  • Clayton PE, Gill MS. Normal Growth and its endocrine control. İn Brook CGD, Hindmarsh PC (Ed). Clinical Pediatric Endocri- nology. Oxford, Blackwell Science Ltd 2001: 95-115.
  • Horner JM, Thorsson AV, Hinz RI. Growth deceleration patterns in children with constitutional short stature : an aid to diagnosis. Pediatr 1978; 62:529-534
  • Grimberg A, Lifshitz F. Worrisome Growth From. Pediatric En- docrinology V. Ed. Ed by Lifshitz F.London, İnforma health care ;1. Lee JM, Davis MM, Clark SJ, Kemper AR. Threshold of Evaluati- on for Short Stature in a Pediatric Endocrine Clinic: Differences between Boys versus Girls ? J. Pediatr. End. and Metab 2007;20: 26.
  • Wadia BJ. Approach to a child with short stature. Pediatric Oncal www.pediatriconcall.com/fordoctor.2004
  • Hintz RL. Management of disorders of size from. Clinical Pedi- atric Endocrinology 4th Ed.by Brook CGD and Hindmarsh PC. Blackwell Science.London 2001;124-139.
  • Mahoney CP. Evaluating the child with short stature. Pediatr Clin North Am 1987: 34:825-849.
  • Cowel C: Optimising catch up growth during GH therapy . High- lights 2006;14:9-10.
  • Ulusal KIGS Büyüme Çalışma Grubu: Boy kısalığı / büyüme yetersizliğinin etyolojik dağılımı ve başvuru özellikleri: XI.Ulusal Pediatrik Endokrinoloji Kongresi 2006:106.
  • Tanner JM, Goldstein H, Whitehouse RH. Standarts for children’s height at ages 2-9 years allowing for heights of parents. Arch Dis Child 1970; 45:755-762.
  • Luo ZC, Albertsson-Wikland K, Karlberg J. Target as predicted by parenteral heights in a population based study. Pediatr Res ;44: 563-571. Ocal G, Çetinkaya E, Berberoğlu M, Adıyaman P. Relationship between parent - spesific height deficit and height improvement in patients with idiopathic growth hormon deficiency undergoing GH therapy. Acta Pediatr Suppl 1999;433:168
  • Karlberg J, Luo ZC. Estimeting the genetic potential in stature. Arch. Dis. Child 2000;82: 270.
  • Cianfarani S, Gercmia C, Germani D, Scire G, Maiorana A, Boe- mi S. Insulin resistance and insulin-like growth factors in children with intrauterine retardation. Horm. Res 2001;55: 7-10.
  • Sedlmeyer IL, Hirschhorn JN, Palmert MR. Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. J Clin Endocrinol Metab 2002 ;87: 5581-5586
  • Giacobbi V, Trivin C, Lawson - Body E, Fonseca M, Souberbielle JC, Brauner R. Extremely short stature:influence of each parent height on clinical - biological features. Horm. Res 2004;60: 272
  • Cohen P, Rosenfeld RG. Growth problems in adolesence İn: Mac Anarney RE. Krepie ER, and ComerciGd (eds). Textbook of Adolesacent Medicine. Philedelphia: Saunders 1992:495-508.
  • Demirel F, Bideci A, Çamurdan MO, Arga M, Cinaz P. Çocuklarda boy kısalığında etiolojik etmenler. Türk Pediatri Arşivi 2005;40:39
  • Cohen P. Understanding idiopatic short stature. Highlights ;15:2-4
  • Gubitosi-Klug RA, Cuttler L. İdiopathic short stature. Endocrinol Metab Clin N Amer 2005;34: 565-580.
  • Miller BS, Zimmerman D. Idiopathic short stature in children. Pe- diatr Ann 2004;33:177-81
  • Wit JM., Idiopathic Short Stature: Reflections on Its definition and spontaneus growth . Horm. Res 2007; 67: 50-57
  • Attie KM, Carısson LM, Rundle AC, Sherman BM. Evidence for partial growth hormone insensitivity among patients with idio- pathic short stature. The National Cooperative Growth Study. J. Pediatr 1995: 127: 244-250.
  • Rosenfeld GR, Hwa V. New molecular mechanism of GH resis- tance. European J. Endocrinol 2004: 151;11-15
  • Quigly CA.Growth hormone treatment of non-growth hormone deficit growth disorders. Endocrinol Metab Clin N Amer 2007;36: 186
  • Cianfarani S, Liguori A, Loche S. Managemet of idiopatic short stature in Europe. Highlights 2007; 15: 5-8.
  • Blair JC, Camacho-Hübner C, Miraki Moud F, Rosberg S, Bur- ren C, Lim S, Clayton PE, Bjarnason R, Albertsson-Wikland K, Savage MO. Standart and low-dose IGF-1 generation tests and spontoaneus growth hormone secretion in children with idiopatic short stature. Clin Endocrinol 2004; 60: 163-168.
  • Brook CG. Views on growth hormone treatment in idiopatic shortness of stature. Acta Paediatr 1998;87: 485-486.
  • Bryant J, Cave C, Milne R.Recombinant growth hormone for idi- opathic short stature in children and adolescent. Cochrane Data- base Syst. Rev 2003;4.CD003887
  • Diago Cabezudo JI, Carrascosa Lezcano A, del Valle Nşñez CJ, Ferrández Longás A, Gracia Bouthelier R, Pombo Arias M. İdio- pathic short stature definition and treatment. An Pediatr ( Barc ) ;64: 360-364. Sanchez JE, Perera E, Baumbach L, Cleveland WW. Growth hor- mone receptor mutations in children with idiopathic short stature. J. Clin. Endocrinol. Metab 1998;83: 4079-4083.

ANTHROPOMETRIC AND DIAGNOSTICAL CHARACTERISTICS OF SHORT STATURE CASES WITHOUT CHRONIC SYSTEMIC DISEASE ADMITTED TO ENDOCRINOLOGY POLICLINIC

Year 2009, Volume: 3 Issue: 4, 23 - 33, 01.04.2009

Abstract

Objective: The aim of this study is to evaluate anthropometric characteristics; to determine the degree of negative deviation from genetic height potentials and diagnostical characteristics according to short stature levels; to examine the role of idiopatik short stature cases without any chronic systemic disease admitted to Ankara University Medical School Pediatric Endocrinology Policlinic.Material and methods: Anthropometric characteristics and diagnosis of 200 cases without chronic disease were evaluated in two stages; all cases were considered without short stature level (STAGE I), and according to short stature level (STAGE II). According to short stature level, the cases were divided into three gruops; mild (negatif devation -2 SD or less), moderate (between -2.1 and -2.99 SD), and severe (-3 SD or more).Findings: STAGE I: The cases were late admissions (10.61±3.42 years) with severe height loss (-2.94±1.12 SD) and their heights were less than expected than their genetic potentials. The idiopathic short stature cases were divided in two subgroups; normal variant idiopathic and pathological idiopathic. Among them, 33.5% of cases were normal variant shortness (familial shortness 9.5%, constitutional shortness 19%, normal variant idiopathic shortness 5%), 66.5% of cases were pathological shortness (causes were determinated 62% and could not be found in 4.5%).STAGE II: 12.5% (-2 SD or less), 51.5%, (between -2.1 and -2.99 SD), and 36% (-3 SD or more) of the subjects had mild, moderate and severe deviation, respectively. The regression of height from genetic potential was determinated in mild shortness 40%, in moderate shortness 72% and severe degree shortness 93%. In mild shortness, normal variant was 72%, pathological shortness was 28%; in moderate shortness normal variant was 47.4%, pathological shortness was 52.6%; in severe shortness pathological shortness was 100%. The growth hormone deficiency was detected in all 3 groups, including mild shortness.Results: Etiology of short stature in subjects from child endocrinology policlinic was not consistent with the etiology of normal population sample. The moderate and severe shortness was 87,5% of all cases, so the frequency of pathological shortness was higher than normal variant shortness observed. Only mild shortness group had a normal vs pathological shortness ratio resembling normal population sample. It was considered that idiopathic short stature cases were not homogenius, and it was not possible to evaluate all cases as only normal variant or pathological shortness; therefore, idiopathic shortness cases were classified as normal variant idiopathic and pathological idiopathic. The control of concordance of height to genetic potential was an important measurement in cases with mild height deviation. Our results showed that the control of height deviation along with the concordance of height to genetic potential was an important factor while interpreting short children

References

  • Günöz H. Büyüme bozuklukları. İçinde:Günöz H, Öcal G, Yor- dam N, Kurtoğlu S. Pediatrik Endokrinoloji ve Oksoloji Yayınları , Ankara. Kalkan Matbacılık 2003:65-136.
  • Günöz H. Boy kısalıkları. (eds) Neyzi O, Ertuğrul T. T.Pediatri. İstanbul: Nobel Tıp Kitabevleri 2002;120-131.
  • American Academy of Pediatrics Policy Statement-Comitee on Practice and Ambulatory Medicine. Recommendations for pre- ventive pediatric health care. Pediatrics 2000; 105:645.
  • O.Neyzi,P Binyıldız, H Alp. Türk çocuklarında büyüme gelişme normları. İst.Tıp. Fak. Mecm 1978;41:74,
  • Reiter EO and Rosenfeld RG. Normal and abberant growth İn: Wilson JD, Foster DW, Kronenberg HM and Larsen PR (eds). Williams Textbook of Endokrinology (9th ed). Philadelphia: W.B. Saunders Co 1998: 1427-1505
  • Rosenfeld RL and Cuttler L. Somatic growth and maturation In: DeGroot LJ and Jameson Jl (eds). Endocrinology Philadelhia: W.B. Saunders Co 2001: 477-500
  • MacGillivary MH. Disorders of growth and development İn: Fe- lig P and Frohman LA (eds). Endocrinology & Metabolism . New York: McGrawHill, İnc 2001:1265-1316
  • Lifshitz F, Cervantes CD. Short stature In: Liftshitz (ed) Pediatric Endocrinology (3rd ed) New York. Marcel Dekker İnc 1996:1
  • Darendeliler F. Boy Kısalığına Yaklaşım. Sürekli Tıp Eğitim Der- gisi 1995;4;5: 153 - 158.
  • Ranke MB. Towards a concensus on the definition of idiopathic short stature: Horm. Res 1996;45;64-66.
  • Rosenfeld GR. Disorders of growth hormone and insulin-like growth faktor secretion and action. In: Speling MA (ed). Pediatric Endocrinology (2nd ed) Pennsylvania: W.B. Saunders Company :117-1169.
  • Saenger P. İdiopathic short stature is not always idiopathic. Acta Pediatr 1999; 428: 184-188.
  • Goddard AD, Covello R. Attie KM. Mutations of the GHR- gene in children with idiopathic short stature. New Engl. J. Med ;33:1093-1098.
  • Clayton PE, Gill MS. Normal Growth and its endocrine control. İn Brook CGD, Hindmarsh PC (Ed). Clinical Pediatric Endocri- nology. Oxford, Blackwell Science Ltd 2001: 95-115.
  • Horner JM, Thorsson AV, Hinz RI. Growth deceleration patterns in children with constitutional short stature : an aid to diagnosis. Pediatr 1978; 62:529-534
  • Grimberg A, Lifshitz F. Worrisome Growth From. Pediatric En- docrinology V. Ed. Ed by Lifshitz F.London, İnforma health care ;1. Lee JM, Davis MM, Clark SJ, Kemper AR. Threshold of Evaluati- on for Short Stature in a Pediatric Endocrine Clinic: Differences between Boys versus Girls ? J. Pediatr. End. and Metab 2007;20: 26.
  • Wadia BJ. Approach to a child with short stature. Pediatric Oncal www.pediatriconcall.com/fordoctor.2004
  • Hintz RL. Management of disorders of size from. Clinical Pedi- atric Endocrinology 4th Ed.by Brook CGD and Hindmarsh PC. Blackwell Science.London 2001;124-139.
  • Mahoney CP. Evaluating the child with short stature. Pediatr Clin North Am 1987: 34:825-849.
  • Cowel C: Optimising catch up growth during GH therapy . High- lights 2006;14:9-10.
  • Ulusal KIGS Büyüme Çalışma Grubu: Boy kısalığı / büyüme yetersizliğinin etyolojik dağılımı ve başvuru özellikleri: XI.Ulusal Pediatrik Endokrinoloji Kongresi 2006:106.
  • Tanner JM, Goldstein H, Whitehouse RH. Standarts for children’s height at ages 2-9 years allowing for heights of parents. Arch Dis Child 1970; 45:755-762.
  • Luo ZC, Albertsson-Wikland K, Karlberg J. Target as predicted by parenteral heights in a population based study. Pediatr Res ;44: 563-571. Ocal G, Çetinkaya E, Berberoğlu M, Adıyaman P. Relationship between parent - spesific height deficit and height improvement in patients with idiopathic growth hormon deficiency undergoing GH therapy. Acta Pediatr Suppl 1999;433:168
  • Karlberg J, Luo ZC. Estimeting the genetic potential in stature. Arch. Dis. Child 2000;82: 270.
  • Cianfarani S, Gercmia C, Germani D, Scire G, Maiorana A, Boe- mi S. Insulin resistance and insulin-like growth factors in children with intrauterine retardation. Horm. Res 2001;55: 7-10.
  • Sedlmeyer IL, Hirschhorn JN, Palmert MR. Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. J Clin Endocrinol Metab 2002 ;87: 5581-5586
  • Giacobbi V, Trivin C, Lawson - Body E, Fonseca M, Souberbielle JC, Brauner R. Extremely short stature:influence of each parent height on clinical - biological features. Horm. Res 2004;60: 272
  • Cohen P, Rosenfeld RG. Growth problems in adolesence İn: Mac Anarney RE. Krepie ER, and ComerciGd (eds). Textbook of Adolesacent Medicine. Philedelphia: Saunders 1992:495-508.
  • Demirel F, Bideci A, Çamurdan MO, Arga M, Cinaz P. Çocuklarda boy kısalığında etiolojik etmenler. Türk Pediatri Arşivi 2005;40:39
  • Cohen P. Understanding idiopatic short stature. Highlights ;15:2-4
  • Gubitosi-Klug RA, Cuttler L. İdiopathic short stature. Endocrinol Metab Clin N Amer 2005;34: 565-580.
  • Miller BS, Zimmerman D. Idiopathic short stature in children. Pe- diatr Ann 2004;33:177-81
  • Wit JM., Idiopathic Short Stature: Reflections on Its definition and spontaneus growth . Horm. Res 2007; 67: 50-57
  • Attie KM, Carısson LM, Rundle AC, Sherman BM. Evidence for partial growth hormone insensitivity among patients with idio- pathic short stature. The National Cooperative Growth Study. J. Pediatr 1995: 127: 244-250.
  • Rosenfeld GR, Hwa V. New molecular mechanism of GH resis- tance. European J. Endocrinol 2004: 151;11-15
  • Quigly CA.Growth hormone treatment of non-growth hormone deficit growth disorders. Endocrinol Metab Clin N Amer 2007;36: 186
  • Cianfarani S, Liguori A, Loche S. Managemet of idiopatic short stature in Europe. Highlights 2007; 15: 5-8.
  • Blair JC, Camacho-Hübner C, Miraki Moud F, Rosberg S, Bur- ren C, Lim S, Clayton PE, Bjarnason R, Albertsson-Wikland K, Savage MO. Standart and low-dose IGF-1 generation tests and spontoaneus growth hormone secretion in children with idiopatic short stature. Clin Endocrinol 2004; 60: 163-168.
  • Brook CG. Views on growth hormone treatment in idiopatic shortness of stature. Acta Paediatr 1998;87: 485-486.
  • Bryant J, Cave C, Milne R.Recombinant growth hormone for idi- opathic short stature in children and adolescent. Cochrane Data- base Syst. Rev 2003;4.CD003887
  • Diago Cabezudo JI, Carrascosa Lezcano A, del Valle Nşñez CJ, Ferrández Longás A, Gracia Bouthelier R, Pombo Arias M. İdio- pathic short stature definition and treatment. An Pediatr ( Barc ) ;64: 360-364. Sanchez JE, Perera E, Baumbach L, Cleveland WW. Growth hor- mone receptor mutations in children with idiopathic short stature. J. Clin. Endocrinol. Metab 1998;83: 4079-4083.
There are 41 citations in total.

Details

Other ID JA23SB49DR
Journal Section Research Article
Authors

Nuri Alaçakır This is me

Gönül Öçal This is me

Merih Berberoğlu This is me

Zeynep Şıklar This is me

Pelin Bilir This is me

Publication Date April 1, 2009
Submission Date April 1, 2009
Published in Issue Year 2009 Volume: 3 Issue: 4

Cite

Vancouver Alaçakır N, Öçal G, Berberoğlu M, Şıklar Z, Bilir P. ANTHROPOMETRIC AND DIAGNOSTICAL CHARACTERISTICS OF SHORT STATURE CASES WITHOUT CHRONIC SYSTEMIC DISEASE ADMITTED TO ENDOCRINOLOGY POLICLINIC. Türkiye Çocuk Hast Derg. 2009;3(4):23-3.


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