A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.

Détails

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Etat: Public
Version: Final published version
Licence: CC BY-NC 4.0
ID Serval
serval:BIB_4F2DE07B705C
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.
Périodique
Annals of pediatric endocrinology & metabolism
Auteur(s)
Antoniou M.C., Bouthors T., Xu C., Phan-Hug F., Elowe-Gruau E., Stoppa-Vaucher S., Sloot A.V., Acierno J., Cassatella D., Richard C., Dwyer A., Pitteloud N., Hauschild M.
ISSN
2287-1012 (Print)
ISSN-L
2287-1012
Statut éditorial
Publié
Date de publication
03/2019
Peer-reviewed
Oui
Volume
24
Numéro
1
Pages
49-54
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
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 -2.04 and -1.74 standard deviation score respectively. He had anosmia as well as prepubertal testes and micropenis (4 cm×1 cm). The biological profile showed low basal serum testosterone and gonadotropins (testosterone, 0.2 nmol/L; luteinizing hormone, 0.5 U/L; follicle-stimulating hormone, 1.3 U/L), and otherwise normal pituitary function and normal imaging of the hypothalamic-pituitary area. The constellation of choanal atresia, anosmia, mild dysmorphic features, micropenis and delayed puberty were suggestive of CHARGE syndrome. Targeted genetic testing of CHD7 was performed revealing a de novo heterozygous CHD7 mutation (c.4234T>G [p.Tyr1412Asp]). Further paraclinical investigations confirmed CHARGE syndrome. Despite the presence of suggestive features, CHARGE syndrome remained undiagnosed in this patient until adolescence. Genetic testing helps clarify the phenotypic and genotypic spectrum to facilitate diagnosis, thus promoting optimal follow-up, treatment, and appropriate genetic counselling.
Mots-clé
CHD7, Novel mutation, Pubertal delay, CHARGE syndrome
Pubmed
Web of science
Open Access
Oui
Création de la notice
22/04/2019 15:36
Dernière modification de la notice
20/08/2019 15:04
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