A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome
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 i...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2022/8542281 |
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| author | Ravi Upadhyay Claire Ruane Rachel Umans Beth A. Pletcher Aditi Khokhar Kristin Wong |
| author_facet | Ravi Upadhyay Claire Ruane Rachel Umans Beth A. Pletcher Aditi Khokhar Kristin Wong |
| author_sort | Ravi Upadhyay |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e2daf4dd039844b4bd8f38bc81484cd7 |
| institution | Kabale University |
| issn | 2090-651X |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-e2daf4dd039844b4bd8f38bc81484cd72025-02-03T06:01:51ZengWileyCase Reports in Endocrinology2090-651X2022-01-01202210.1155/2022/8542281A Case of Growth Hormone Use in Dyggve–Melchior–Clausen SyndromeRavi Upadhyay0Claire Ruane1Rachel Umans2Beth A. Pletcher3Aditi Khokhar4Kristin Wong5Departments of Medicine and PediatricsDepartments of Medicine and PediatricsDepartments of Medicine and PediatricsDepartment of PediatricsDepartment of PediatricsDepartments of Medicine and PediatricsShort 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.http://dx.doi.org/10.1155/2022/8542281 |
| spellingShingle | Ravi Upadhyay Claire Ruane Rachel Umans Beth A. Pletcher Aditi Khokhar Kristin Wong A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome Case Reports in Endocrinology |
| title | A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome |
| title_full | A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome |
| title_fullStr | A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome |
| title_full_unstemmed | A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome |
| title_short | A Case of Growth Hormone Use in Dyggve–Melchior–Clausen Syndrome |
| title_sort | case of growth hormone use in dyggve melchior clausen syndrome |
| url | http://dx.doi.org/10.1155/2022/8542281 |
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