A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay
Annals of Pediatric Endocrinology & Metabolism
;
: 49-54, 2019.
Artigo
em Inglês
| WPRIM
| ID: wpr-762590
ABSTRACT
Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities and/or hearing loss). Herein, we present a clinical case of a 14-year-old male presenting for evaluation of poor growth and pubertal delay highlighting the diagnostic challenges of CHARGE syndrome. The patient was born full term and underwent surgery at 5 days of life for bilateral choanal atresia. Developmental milestones were normally achieved. At age 14 his height and weight were
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Puberdade Tardia
/
Testículo
/
Testosterona
/
Hormônio Luteinizante
/
Testes Genéticos
/
Atresia das Cóanas
/
Seguimentos
/
Crescimento e Desenvolvimento
/
Diagnóstico
/
Orelha
Tipo de estudo:
Estudo diagnóstico
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2019
Tipo de documento:
Artigo
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