We document a Japanese girl who, without apparent growth hormone (GH)-l gene deletion, had a clinical phenotype identical to that of isolated growth hormone deficiency type 1A (IGHD-1A). The restriction fragment length polymorphism (RFLP) linkage analysis of the patient and her family members indicates that her GH-1 gene is structurally intact, though the molecular basis of her GH deficiency remains to be determined. We suspect that several congenital disorders other than GH-1 gene mutations may be responsible for IGHD-1A phenotype.
- growth hormone
- growth hormone-1 gene
- growth hormone-releasing factor gene
- isolated growth hormone deficiency type 1A
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Endocrinology, Diabetes and Metabolism