Upadhyay Ravi, Ruane Claire, Umans Rachel, Pletcher Beth A, Khokhar Aditi, Wong Kristin
Departments of Medicine and Pediatrics, Rutgers University New Jersey Medical School, Newark, NJ, USA.
Department of Pediatrics, Rutgers University New Jersey Medical School, Newark, NJ, USA.
Case Rep Endocrinol. 2022 Mar 15;2022:8542281. doi: 10.1155/2022/8542281. eCollection 2022.
Short stature has many causes including genetic disease, skeletal dysplasias, endocrinopathies, familial short stature, and nutritional deficiencies. Recombinant growth hormone (rGH) therapy may be employed to improve stature based on the underlying etiology and growth velocity. Skeletal dysplasia in Dyggve-Melchior-Clausen (DMC) syndrome tends to be progressive, typically with hip involvement, and ultimately leads to bilateral dislocation of the hip joints. Here, we present a pediatric patient with short stature treated with rGH therapy, complicated by the development of debilitating, bilateral hip pain, and found to have DMC syndrome. Our patient had limited range of motion at several joints including the hips after receiving 6 months of rGH therapy. Given the timing of the patient's rGH therapy and the progression of her disease, it is difficult to determine if there were any benefits and instead, is concerning for worsening of her skeletal dysplasia with rGH therapy use. Consequently, patients with severe short stature should have a thorough workup for genetic causes like DMC syndrome, before initiating rGH therapy to determine any potential benefits or harms of treatment.
身材矮小有多种原因,包括遗传疾病、骨骼发育不良、内分泌疾病、家族性身材矮小和营养缺乏。可根据潜在病因和生长速度采用重组生长激素(rGH)治疗来改善身高。戴格维-梅尔基奥尔-克劳森(DMC)综合征中的骨骼发育不良往往呈进行性,通常累及髋关节,最终导致双侧髋关节脱位。在此,我们报告一名身材矮小的儿科患者,接受rGH治疗后出现使人衰弱的双侧髋关节疼痛,并被诊断为DMC综合征。我们的患者在接受6个月的rGH治疗后,包括髋关节在内的多个关节活动范围受限。鉴于患者接受rGH治疗的时间以及病情进展,很难确定是否有任何益处,相反,令人担忧的是rGH治疗会使她的骨骼发育不良恶化。因此,严重身材矮小的患者在开始rGH治疗之前,应针对DMC综合征等遗传病因进行全面检查,以确定治疗的任何潜在益处或危害。