Üçüncü Basamak Bir Çocuk Endokrinoloji Kliniğinde Boy Kısalığı ile İzlenen Olguların Etiyolojik Açıdan Değerlendirilmesi

Abstract

Amaç Boy kısalığı (BK) boy uzunluğunun yaşa ve cinsiyete göre iki standart sapma (SD) altında olmasıdır. Boy kısalığı etiyolojisinde en büyük grubu idiyopatik boy kısalığı (İBK) oluşturmasına karşın, patolojik boy kısalıklarının erken tanı ve tedavisi normal erişkin boy potansiyeli kaybını önlemek açısından son derece önemlidir. Bu çalışmada boy kısalığı tanısıyla izlenen olguların etiyolojik açıdan değerlendirilmesi amaçlandı. Gereç-Yöntem Trakya Üniversitesi Tıp Fakültesi Çocuk Endokrinolojisi Polikliniği’nde BK tanısıyla izlenen 536 olgu geriye dönük olarak değerlendirildi. Olguların izlem dosyalarından tanı yaşı, cinsiyeti, aile öyküsü, antropometrik ve fizik muayene bulguları, birinci ve ileri düzey laboratuvar tetkikleri, tanı ve tedavi bilgileri kaydedildi. Boy SDS’si -2 - (-2,5) SDS arası olanlar hafif BK, ≤ -2,5 olanlar ağır BK, oturma yüksekliği / boy oranı yaşa göre normal ise orantılı, bozuk ise orantısız BK olarak tanımlandı. Olguda BK hafif, doğum ağırlığı normal, fizik ve laboratuvar incelemeleri ve büyüme hızı normal olup hedef boy ile öngörülen boy uyumlu ise idiyopatik BK, büyüme plağındaki sorunlara bağlı gelişen BK ise primer BK, büyüme plağını dolaylı olarak etkileyen nedenlere bağlı ise sekonder BK olarak tanımlandı. Bulgular BK tanılı 536 olgunun ortalama başvuru yaşı 10,8 ±3,3 (1,3-17,7) yıl olup, 296’sı (%55,2) erkek, 240’ı (%44,8) kız ve kız/erkek oranı: 1:1,2 idi. Başvuruda olguların ortalama vücut ağırlığı SDS 2,2 ±1,1 ve ortalama boy SDS -2,8 ±0,8 idi. İdiyopatik BK gurubu %69,3 (368 olgu) ile en sık görülen BK gurubuydu. İdiyopatik BK gurubun ortalama boy SDS -2,6±0,5 ile patolojik BK gurubuna göre anlamlı yüksekti (p<0,001). İki gurup arasında puberte durumu ve cinsiyet açısından anlamlı bir fark yoktu (p=0,03, p=0,06, sırasıyla). Sonuç Boy kısalığı olgularının çoğu idiyopatik BK olması nedeniyle ileri tetkik yapmadan önce, ayrıntılı öykü ve fizik muayene yapılmalı ve özellikle puberte öncesi hedef boy ve öngörülen boyu benzer olan olgularda yıllık büyüme hızı izlenmelidir.

Keywords

• boy kısalığı
• idiyopatik boy kısalığı
• etiyoloji
• büyüme hormonu eksikliği

Etiological Evaluation of the Cases with Short Stature in a Tertiary Pediatric Endocrinology Clinic

Abstract

Aim Short stature (SS) is a stature below two standard deviations (SD) for age and gender. Although idiopathic short stature (ISS) constitutes the largest group in the etiology of short stature, early diagnosis and treatment of pathological short stature is extremely important to prevent loss of normal adult height potential. In this study, it was aimed to evaluate the cases followed with the diagnosis of short stature in terms of etiology. Method We retrospectively evaluated 536 cases with the diagnosis of SS in Trakya University Faculty of Medicine, Pediatric Endocrinology Outpatient Clinic. Diagnostic age, gender, family history, anthropometric and physical examination findings, first and advanced laboratory tests, diagnosis and treatment information were recorded from the follow-up files of the cases. Those with a height SDS between -2 and (-2.5) SDS were defined as mild SS, those with ≤ -2.5 as severe SS, if the sitting height/height ratio was normal for age, it was defined as proportional BC, and if it was abnormal, it was defined as disproportionate SS. In the case, SS was defined as mild, birth weight was normal, physical and laboratory examinations and growth rate were normal, and if the target height was compatible with the predicted height, SS was defined as idiopathic, SS developing due to problems in the growth plate was defined as primary SS, and if it was due to causes that indirectly affected the growth plate, it was defined as secondary SS. Results The mean age at presentation of 536 cases diagnosed with SS was 10.8 ± 3.3 (1.3-17.7) years, 296 (55.2%) male, 240 (44.8%) female and female/ male ratio: 1:1.2. At admission, the mean body weight SDS of the cases was 2.2 ±1.1 and the mean height SDS was -2.8 ±0.8. The idiopathic BK group was the most common SS group with 69.3% (368 cases). The mean height SDS of the idiopathic SS group was -2.6±0.5, which was significantly higher than the pathological SS group (p<0.001). There was no significant difference between the two groups in terms of puberty status and gender (p=0.03, p=0.06, respectively). Conclusion Since most of the short stature cases are idiopathic SS, a detailed history and physical examination should be done before further examination, and annual growth rate should be monitored especially in cases with similar prepubertal target height and predicted height.

Keywords

• short stature
• idiopathic short stature
• etiology
• growth hormone deficiency

References

1. 1) 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 Apr;18(2):89-110.
2. 2) Lipman TH, Hench K, Logan JD, DiFazio DA, Hale PM, Singer-Granick C. Assessment of growth by primary health care providers. J Pediatr Health Care. 2000;14:166–71
3. 3) Rani D, Shrestha R, Kanchan T, Krishan K. Short Stature. 2023 Mar 13. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. PMID: 32310491.
4. 4) Chiarelli F, Primavera M, Mastromauro C. Evaluation and management of a child with short stature. Minerva Pediatr. 2020 Dec;72(6):452-461.
5. 5) Neyzi O, Gunoz H, Furman A, Türk çocuklarında vücut ağırlığı, boy uzunluğu, baş çevresi ve vücut kitle indeksi referans değerleri. Çocuk Sağlığı ve Hastalıkları Dergisi 2008;51:1-14.
6. 6) Tanner JM, Goldstein H, Whitwhouse RH. Standards for children’s height at age 2-9 years allowing for height of parents. Arch Dis Child. 1970;45:755-62.
7. 7) Bayley N, Pinneau SR. Tables for predicting adult height from skeletal age: revised for use with the GreulichPyle hand standart. J Pediatr. 1952;40:423-41.
8. 8) Bundak R, Bas F, Furman A et al. Sitting height and sitting height/height ratio references for Turkish children. Eur J Pediatr 2014; 173: 861-9.

9. 9) Fenton TR, Kim JH. A systematic review and metaanalysis to revise the Fenton growth chart for preterm infants. BMC Pediatr. 2013;13:59.
10. 10) Uçkun U, Bas F, Poyrazoglu S, Şükür M, Darendeliler F, Bundak R. Üçüncü basamak bir pediatrik endokrinoloji merkezinde izlenen ağır boy kısalığı olgularının etiyolojik değerlendirmesi. Çocuk Dergisi 2019; 19: 63-76.
11. 11) Neyzi O, Bundak R, Darendeliler F, Günöz H. Büyüme Gelişme ve Bozuklukları. In: Neyzi O, Ertuğrul T, eds. Pediyatri Cilt 1, 4th ed, Istanbul: Nobel Tıp Kitapevleri, 2010:89-149.
12. 12) Jan M Wit. International Classification of Pediatric Endocrine Diagnoses. Horm Res Paediatr. 2016;86(3): 212-4.
13. 13) Tillmann V , Buckler JM, Kibirige MS, et al. Biochemical tests in the diagnosis of childhood growth hormone deficiency. J Clin Endocrinol Metab1997;82:531–5
14. 14) Hindmarsh PC, Cole TJ. Evidence-based growth hormone therapy prediction models. J Pediatr Endocrinol Metab2000;13:1359–64
15. 15) Cole TJ, Hindmarsh PC, Dunger DB. Growth hormone (GH) provocation tests and the response to GH treatment in GH deficiency. Arch Dis Child. 2004 Nov;89(11):1024-7.
16. 16) Cohen LE. Idiopathic short stature: a clinical review. JAMA. 2014 May 7;311(17):1787-96.
17. 17) Vyas V, Menon RK. Management of Short Stature: Use of Growth Hormone in GH-Deficient and non-GH-Deficient Conditions. Indian J Pediatr. 2021 Dec;88(12):1203-1208.
18. 18) Song KC, Jin SL, Kwon AR, Chae HW, Ahn JM, Kim DH, et al. Etiologies and characteristics of children with chief complaint of short stature. Ann Pediatr Endocrinol Metab. 2015;20:34-9.
19. 19) Papadimitriou A, Douros K, Papadimitriou DT, Kleanthous K, Karapanou O, Fretzayas A. Characteristics of the short children referred to an academic paediatric endocrine clinic in Greece. J Paediatr Child Health. 2012;48:263-7.
20. 20) Demirel D, Bideci A, Çamurdan MO, Arga M, Cinaz P. Çocuklarda boy kısalığında etiolojik etmenler. Türk Pediatri Arşivi 2005; 40: 39-43.
21. 21) Darcan S, Arslanoglu I, Isguven P et al. Etiological and auxological profile of short stature in pediatric endocrine clinics in the year of 2005: an attempt for a more accurate classification of short stature. Horm Res Paediat 2007; 68: 162.
22. 22) Collett-Solberg PF, Ambler G, Backeljauw PF et al. Diagnosis, genetics, and therapy of short stature in children: A Growth hormone research society ınternational perspective. Horm Res Paediatr 2019; 92: 1-14.
23. 23) Esen İ, Yalçın EM, Ökdemir D. Bir Çocuk Endokrinoloji Ünitesinde Boy Kısalığı olan Çocukların Etiyolojik Dağılımı. Firat Med J 2020; 25(3): 147-151
24. 24) Golden MH. Is complete catch-up possible for stunted malnourished children? Eur J Clin Nutr. 1994 Feb;48 Suppl 1:S58-70; discussion S71.
25. 25) Scherdel P, Salaün JF, Robberecht-Riquet MN, Reali L, Páll Get al. European Confederation of Primary Care Paediatricians Research Group; Chalumeau M. Growth monitoring: a survey of current practices of primary care paediatricians in Europe. PLoS One. 2013 Aug 5;8(8):e70871.
26. 26) Al-Jurayyan NNA, Mohamed SH, Al Otaibi HM, et al. Short stature in children: pattern and frequency in a pediatric clinic, Riyadh, Saudi Arabia. Sudan J Paediatr 2012; 12: 79–83.
27. 27) Lashari SK, Korejo HB and Memon YM. To determine frequency of etiological factors in short statured patients presenting at an endocrine clinic of a tertiary care hospital. Pak J Med Sci 2014; 30: 858–861.
28. 28) Lindsay R, Feldkamp M, Harris D, et al. Utah Growth Study: growth standards and the prevalence of growth hormone deficiency. J Pediatr 1994; 125: 29–35.
29. 29) Zayed AA, Mustafa Ali MK, Al-Ani MA, et al. The prevalence of isolated growth hormone deficiency among children of short stature in Jordan and its relationship with consanguinity. Clin Endocrinol (Oxf) 2014; 81: 876–882.
30. 30) Muhammad A , Arif N, Wajid KK, Rehman K, Sardar N, et al. Short Stature and Celiac Disease in Children (5 to 16 Years) Presenting at a Tertiary Care Hospital in Peshawar. Cureus. 2022 Jun 19;14(6):e26099.
31. 31) Leffler DA, Green PH, Fasano A. Extraintestinal manifestations of coeliac disease. Nat Rev Gastroenterol Hepatol. 2015 Oct;12(10):561-71.
32. 32) Wit JM, Kamp GA, Oostdijk W; on behalf of the Dutch Working Group on Triage and Diagnosis of Growth Disorders in Children. Towards a Rational and Efficient Diagnostic Approach in Children Referred for Growth Failure to the General Paediatrician. Horm Res Paediatr. 2019;91(4):223-240.