Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL7 gene mutation.
J Pediatr Endocrinol Metab
; 33(12): 1609-1612, 2020 Dec 16.
Article
en En
| MEDLINE
| ID: mdl-32924381
ABSTRACT
OBJECTIVE:
3-M syndrome is characterized by severe short stature, syndromic features, and characteristic radiographic findings. Growth hormone (GH) has been used with variable success. Recombinant human insulin like growth factor-1 (rhIGF-1) has never been utilized. CASE PRESENTATION We describe a child with severe growth retardation, macrocephaly, and skeletal abnormalities with evidence of GH insensitivity subsequently treated with rhIGF-1. He developed morbid obesity and comorbidities including voracious appetite, acanthosis nigricans, tonsillar hypertrophy, and severe obstructive sleep apnea with minimal height improvement. Genetic testing done at 11.5 years revealed a compound heterozygous mutation (c.2112G>A(p.W704X) and c.2559delC) in the CUL7 gene consistent with 3-M syndrome-1. rhIGF-1 therapy was discontinued.CONCLUSIONS:
This case highlights the novel use of rhIGF-1 therapy on a child with 3-M syndrome-1 with minimal height benefit but accelerated weight gain and serves as a reminder of the importance of re-evaluating therapy efficacy and side effect profile.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Columna Vertebral
/
Proteínas Recombinantes
/
Factor I del Crecimiento Similar a la Insulina
/
Sustancias de Crecimiento
/
Proteínas Cullin
/
Enanismo
/
Hipotonía Muscular
/
Mutación
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Estados Unidos