Article
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.
Archives of endocrinology and metabolism - 1 Dec 2017
Correa Fernanda A, França Marcela M, Fang Qing, Ma Qianyi, Bachega Tania A, Rodrigues Andresa, Ozel Bilge A, Li Jun Z, Mendonca Berenice B, Jorge Alexander A L, Carvalho Luciani R, Camper Sally A, Arnhold Ivo J P
Abstract excerpt
Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to second-degree cousins presented with severe short stature (height SDS -3.7) and bone age of 6 years. Clonidine and combined...
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