Acromesomelic Dysplasia, Type Maroteaux: Impact of Long-Term (8 Years) High-Dose Growth Hormone Treatment on Growth Velocity and Final Height in 2 Siblings
| Autor: | Simon Chapman, Ved Bhushan Arya, Melita B. Irving, Charles R. Buchanan, Maha Younes, Meena Raj, Ritika R. Kapoor |
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| Rok vydání: | 2020 |
| Předmět: |
Male
medicine.medical_specialty Adolescent medicine.drug_class Endocrinology Diabetes and Metabolism Provocation test Dwarfism 030209 endocrinology & metabolism Short stature 03 medical and health sciences 0302 clinical medicine Endocrinology Internal medicine Natriuretic peptide medicine Humans Growth Charts Child Bone Diseases Developmental 030219 obstetrics & reproductive medicine business.industry Infant Newborn Infant medicine.disease NPR2 Body Height Growth hormone treatment Radiography Dysplasia Child Preschool Growth Hormone Pediatrics Perinatology and Child Health Acromesomelic dysplasia Female medicine.symptom business |
| Zdroj: | Hormone research in paediatrics. 93(5) |
| ISSN: | 1663-2826 |
| Popis: | Introduction: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare autosomal recessive skeletal dysplasia, characterized by severe dwarfism and disproportionate limb shortening. It results from loss-of-function NPR2 mutations affecting the C-type natriuretic peptide receptor. Resistance to growth hormone (GH) action has previously been suggested. We describe outcomes of 2 siblings with AMDM after prolonged high-dose GH treatment. Patients/Methods: Two siblings (Pt-A and Pt-B; consanguineous parents) presented in early childhood with severe disproportionate short stature and radiological features of AMDM. Subsequent genetic testing identified a novel homozygous NPR2 mutation. GH provocation testing showed relatively high GH levels. Serum insulin-like growth factor 1 (IGF-1) was ∼2 SD below age/sex-specific mean. High-dose GH (0.075 mg/kg/day) was started. Pre-GH height velocities were 3.7 (Pt-A) and 4.5 (Pt-B) cm/year. GH dose was adjusted to sustain serum IGF-1 towards +3 SDS for age/sex. Annualized height velocities for first 3 years on GH were 7.0, 5.4, and 4.7 cm/year for patient A and 9.4, 8.0, and 5.9 cm/year for patient B. Height gain during puberty was 10.6 (Pt-A) and 5.9 (Pt-B) cm. Final heights after 8.5 years of GH treatment were 130.5 cm (−6.57 SDS, Pt-A) and 134 cm (−4.58 SDS, Pt-B). Conclusions: To the best of our knowledge, this is the first report of final height in patients with AMDM after long-term GH treatment. Our results confirm the finding of relative GH resistance in AMDM, which when overcome with high-dose GH treatment resulted in improved height SDS during childhood and adolescence and associated quality of life. The final height of our patients was significantly higher than average reported final height (120 cm) of AMDM patients. |
| Databáze: | OpenAIRE |
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