Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
Arch. endocrinol. metab. (Online); 61 (6), 2017
SUMMARY 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 secon...
Hiperplasia Suprarrenal Congénita/complicaciones, Hiperplasia Suprarrenal Congénita/genética, Enfermedades del Desarrollo Óseo/etiología, Enfermedades del Desarrollo Óseo/genética, Consanguinidad, Enanismo Hipofisario/complicaciones, Enanismo Hipofisario/genética, Mutación, Linaje, Fenotipo, Receptores de Neuropéptido/genética, Receptores de Hormona Reguladora de Hormona Hipofisaria/genética, Esteroide 21-Hidroxilasa/genética