Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth
Arch. endocrinol. metab. (Online)
; 64(4): 487-491, July-Aug. 2020. graf
Article
em En
| LILACS
| ID: biblio-1131113
Biblioteca responsável:
BR1.1
ABSTRACT
SUMMARY CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has shown some benefit, but normal height is rarely attained. We report a girl with CHARGE syndrome due to a de novo frameshift mutation in the CHD7 gene (c.2509_2512delCATT), in whom recurrent hypoglycaemia led to the diagnosis of GH deficiency in the second month of life. Early initiation of treatment with recombinant GH resulted in normal growth over ten years of follow-up. This case is the youngest reported CHARGE patient to be diagnosed and treated for GH deficiency and demonstrates that GH deficiency in CHARGE syndrome may manifest early in life through hypoglycaemia, before growth retardation is noted, and can be successfully treated with recombinant GH.
Texto completo:
1
Índice:
LILACS
Assunto principal:
Síndrome CHARGE
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
Arch. endocrinol. metab. (Online)
Assunto da revista:
ENDOCRINOLOGIA
/
METABOLISMO
Ano de publicação:
2020
Tipo de documento:
Article