Retrospective evaluation of clinical, biochemical, and radiological findings and etiological distribution of children presenting with short stature

Background: Short stature and growth concerns are common complaints in pediatric practice and ranks among the top reasons for referrals to pediatric endocrinology clinics. This study aims to retrospectively evaluate the clinical, biochemical, and radiological findings of children presenting with complaints of short stature at the IUC-Cerrahpaşa Medical Faculty, Department of Pediatric Endocrinology, and to determine their etiological distribution. Methods: The study included 1010 pediatric patients who presented with short stature complaints to the Pediatric Endocrinology clinic between 2008-2022, whose height was below -2 SDS, or whose annual growth rate was insufficient for their age. Patients' data were retrieved from archived files. Results: Among the cases, 70.2% had secondary growth disorders, 19.5% had primary growth disorders, and 10.3% were identified with idiopathic short stature. Growth hormone deficiency was identified as the most common cause of secondary growth disorder, while Turner syndrome was prominent among syndromic diseases associated with short stature. The average age at referral was 9.5 ± 4.04 years. 88% of the patients had a height below -2 SDS, and 34% had a height below -3 SDS. The average height SDS of all patients was -2.8 ± 0.98, body weight SDS was -2 ± 1.35, BMI SDS was -0.5 ± 1.34, and target height SDS was -1.1 ± 0.87. In 11.9% of the cases, BMI SDS was below -2. Growth hormone stimulation tests showed partial or complete GHD in 57.9% of the patients, while 30.7% had bioinactive GHD. Growth hormone therapy was initiated in 655 patients and 276 reached final height. Of those reaching final height, 69.2% responded adequately to treatment within the first 6-12 months. Conclusion: Children with short stature present with a wide range of etiological distribution. Our study emphasizes the importance of a comprehensive diagnostic process in evaluating such cases and contributes to understanding the etiological factors in short stature cases encountered in pediatric endocrinology clinics. Keywords: Short Stature, Etiological Distribution, Malnutrition, Growth Hormone Therapy, Final Height, Pediatric Endocrinology