A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay
10.6065/apem.2019.24.1.49
- Author:
Maria Christina ANTONIOU
1
;
Thérèse BOUTHORS
;
Cheng XU
;
Franziska PHAN-HUG
;
Eglantine ELOWE-GRUAU
;
Sophie STOPPA-VAUCHER
;
Almer VAN DER SLOOT
;
James ACIERNO
;
Daniele CASSATELLA
;
Celine RICHARD
;
Andrew DWYER
;
Nelly PITTELOUD
;
Michael HAUSCHILD
Author Information
1. Department of Pediatric Endocrinology and Diabetology, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland. Michael.Hauschild@chuv.ch
- Publication Type:Case Report
- Keywords:
CHARGE syndrome;
Pubertal delay;
CHD7;
Novel mutation
- MeSH:
Adolescent;
CHARGE Syndrome;
Choanal Atresia;
Diagnosis;
Ear;
Follicle Stimulating Hormone;
Follow-Up Studies;
Genetic Testing;
Gonadotropins;
Growth and Development;
Hearing;
Heart;
Humans;
Luteinizing Hormone;
Male;
Olfaction Disorders;
Puberty, Delayed;
Testis;
Testosterone
- From:Annals of Pediatric Endocrinology & Metabolism
2019;24(1):49-54
- CountryRepublic of Korea
- Language:English
-
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
