Fatma ÖZGÜÇ ÇÖMLEK, Beyhan ÖZKAYA DÖNMEZ, Hümeyra YAŞAR KÖSTEK, Emine DİLEK, Diğdem BEZEN, Filiz TÜTÜNCÜLER

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

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.

Anahtar Kelimeler:

boy kısalığı, idiyopatik boy kısalığı, etiyoloji, büyüme hormonu eksikliği

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

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,

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