A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay
Annals of Pediatric Endocrinology & Metabolism
;
: 49-54, 2019.
Article
Dans Anglais
| 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
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Retard pubertaire
/
Testicule
/
Testostérone
/
Hormone lutéinisante
/
Dépistage génétique
/
Atrésie des choanes
/
Études de suivi
/
Croissance et développement
/
Diagnostic
/
Oreille
Type d'étude:
Etude diagnostique
/
Étude observationnelle
/
Étude pronostique
/
Facteurs de risque
Limites du sujet:
Adolescent
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Annals of Pediatric Endocrinology & Metabolism
Année:
2019
Type:
Article
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