Short stature is one of the most frequent causes of referral to the children’s endocrine outpatient cinics. Short stature affects 2-3% of the general population. The short stature homeobox (SHOX) gene is located in the pseudo-autosomal regions of the short arms of the X and Y chromosomes. Deletions or mutations on the gene cause Turner’s syndrome, idiopathic short stature, and Leri-Weill dyschondrosteosis (LWD). Here, we present a case with SHOX gene deletion detected in a genetic study that was performed due to LWD findings.
A 4-year 3-month-old girl presented to our clinic because of shortness. There was no family history. Her arms were short and curved.
Height was 96 cm (3-10p/-1.47 SDS), body weight 15.3 kg (25-50p, -0.43 SDS), the right upper arm was 13 cm, the right forearm 13 cm, the upper left arm 10.5 cm, and the right forearm was 10 cm. The distance between the fingers was 92 cm. Other system examinations were normal. Complete blood count, biochemical parameters, and thyroid function tests were normal. Madelung deformities were observed in the radiographs of the upper extremity. LWD was considered in patients with present findings. Karyotype analysis revealed 46,XX. SHOX (Xp22.3) gene deletion was detected in the patient who underwent advanced genetic examination.
We wanted to emphasize the importance of genetic studies in the etiology of short stature by presenting our case with LWD findings and SHOX gene deletion.