Affiliation:
1. Faculty Of Human Medicine, Department of Endocrinology Medicine
2. Department of Endocrinology Medicine, Tishreen University Hospital, Latakia, Syria
Abstract
Introduction and importance:
SCHMID metaphyseal chondrodysplasia is a rare cause of short stature with a good prognosis regarding other types of chondrodysplasia in reason of the normal integrity of the growth plate.
Case presentation:
The authors present a rare case of 4-year-2-month-old boy referred to our Unit for harmonious short stature, he had a waddling gait, subtle micromelia, and hyperlordosis, no special facies.
Clinical discussion:
The skeletal scan made the diagnosis of SCHMID metaphyseal chondrodysplasia. The first laboratory workup showed elevated thyroid stimulating hormone and anti-tissue transglutaminase immunoglobulin A. The duodenal biopsies confirmed the diagnosis of coeliac disease. Treatment of levothyroxine was initiated with a gluten-free diet .6 years later, his re-evaluation showed a low insulin-like growth factor 1 and low growth hormone peaks confirming the diagnosis of growth hormone deficiency, Growth hormone therapy was initiated with an adjusted dose of levothyroxine.
Conclusion:
Other causes of short stature should not be missed when diagnosing chondrodysplasia, and further investigations should be carried out to detect other concomitant disorders since metaphyseal chondrodysplasia is a rare cause for short stature while hypothyroidism and coeliac disease are relatively common.
Publisher
Ovid Technologies (Wolters Kluwer Health)