Neonatal presentation of growth hormone deficiency in CHARGE syndrome: the benefit of early treatment on long-term growth

• Type: Article in International Scientific Journal
• Date: 2020

Authors

Lemos, MC (Author) Other; Fontoura, M (Author) Other; Costa, C (Author) FMUP; Coutinho, E (Author) Other; Santos Silva, R (Author) FMUP; C Correia (Author) FMUP

Journal

Title: Archives of endocrinology and metabolism

ISSN: 2359-3997

Publisher: Segmento Farma Editores

Indexing

ISI Web of Knowledge - 0 Citations

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Other information

Authenticus ID: P-00S-M7C

DOI: 10.20945/2359-3997000000231

Abstract (EN): CHARGE syndrome is a complex disorder involving multiple congenital anomalies and is caused by heterozygous mutations in the CHD7 gene. Growth retardation is a characteristic finding and about 10% of cases present growth hormone (GH) deficiency. GH treatment of short stature in CHARGE syndrome has shown some benefit, but normal height is rarely attained. We report a girl with CHARGE syndrome due to a de novo frameshift mutation in the CHD7 gene (c.2509_2512delCATT), in whom recurrent hypoglycaemia led to the diagnosis of GH deficiency in the second month of life. Early initiation of treatment with recombinant GH resulted in normal growth over ten years of follow-up.This case is the youngest reported CHARGE patient to be diagnosed and treated for GH deficiency and demonstrates that GH deficiency in CHARGE syndrome may manifest early in life through hypoglycaemia, before growth retardation is noted, and can be successfully treated with recombinant GH.

Language: English

Type (Professor's evaluation): Dissemination