A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay
Annals of Pediatric Endocrinology & Metabolism
;
: 49-54, 2019.
Article
in English
| 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
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Puberty, Delayed
/
Testis
/
Testosterone
/
Luteinizing Hormone
/
Genetic Testing
/
Choanal Atresia
/
Follow-Up Studies
/
Growth and Development
/
Diagnosis
/
Ear
Type of study:
Diagnostic study
/
Observational study
/
Prognostic study
/
Risk factors
Limits:
Adolescent
/
Humans
/
Male
Language:
English
Journal:
Annals of Pediatric Endocrinology & Metabolism
Year:
2019
Type:
Article
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