A Case of Growth Hormone Use in Dyggve-Melchior-Clausen Syndrome

Abstract

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.

Figure 1

PA radiograph of the left hand for bone age evaluation. A radiograph of the left hand is depicted. The patient's chronological age at the time of the evaluation was 12 years and 2 months. According to the second edition of Greulich and Pyle, the patient's bone age is 11 years. Also noted is a short first metacarpal bone. The remaining bones have normal morphology. There is normal bone mineral density.

Figure 2

The cervical spine visualized to the C5 level. The vertebrae are diminished in height and dysmorphic in appearance (thick arrow). There is anterior wedging (thin arrow).

Figure 3

Pelvic and hip abnormalities associated with DMC syndrome. The pelvis with both hips is depicted. Both femoral heads are essentially dislocated/severely subluxated from the shallow, dysplastic acetabulum with resultant formation of a pseudoacetabulum superior and lateral to the native acetabulum bilaterally (thick arrow). Both femoral heads are deformed and small in size (thick arrow). There is premature growth plate fusion at the proximal femoral epiphyses (thin arrow). The iliac rest margins appear deformed (star). The ischial bones and inferior pubic rami are hypoplastic as well (arrowhead). There is decreased bone mineral density throughout, and the bones appear gracile.