ESPE Abstracts

Introduction: SHOX deficiency is the most common cause of monogenic short stature and results in short stature with a highly variable phenotype. In this study, we aimed to detect SHOX gene pathologies in patients who applied to the pediatric endocrine outpatient clinic with short stature and who were found to have Madelung deformity on hand-wrist radiography, and to evaluate the clinical, laboratory features and responses to growth hormone (GH) treatment.

Method: SHOX gene FISH analysis was performed in 21 of 23 cases who applied with short stature and who were found to have Madelung deformity on hand-wrist radiography, and microarray test was performed in 2 cases. For Madelung deformity; the criteria were triangularization of the distal radial epiphysis, lucency of the ulnar border of the distal radius, enlarged diaphysis of radius plus bowing of radius, shortening of the 4th and 5th metacarpals, pyramidalization of the carpal row, and convexity of distal radial metaphysis. SHOX gene sequence analysis and MLPA test were planned to be performed for cases where deletion was not found in the FISH analysis.

Results: Deletion in SHOX gene was found in 13 (56%) of 23 patients. Clinical characteristics, anthropometric measurements, age at onset of growth hormone treatment, initial height and treatment responses of the patients were evaluated. Nine of the 13 cases (69.2%) were female and 4 were male. Average age on application was 6.4 years (0.5-14.3), average height SDS was -2.97 ((-4.88) - (- 0 56)], 9 cases were prepubertal, 4 cases were pubertal. The mean age at diagnosis was 9.4 years (2.9-20). GH treatment was given to nine patients. GH treatment onset mean age was 6.6 years (2.4-10.6), mean height SDS was -2.8. In patients who had received growth hormone treatment median first-year change-in-height SDS of + 0.53. Treatment of three patients was completed, and the mean duration of treatment was 24.6 months (12-58), and the mean final height was 143 cm (133.3-160).

Conclusion: In our study, we found SHOX gene pathology in 56% of cases with short stature and Madelung deformity. MLPA test and gene sequence analysis studies continue in cases with normal FISH analysis. There is a need for increased experience with early growth hormone therapy in SHOX deficiency.