Ontology highlight
ABSTRACT:
SUBMITTER: Zhu Z
PROVIDER: S-EPMC4694444 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Zhu Ziyang Z Ni Shining S Gu Wei W
International journal of clinical and experimental medicine 20151015 10
Combined with the literature, recognize the clinical features and molecular genetic mechanism of the disease. 17a-hydroxylase/17,20-lyase deficiency, a rare form of congenital adrenal hyperplasia, is caused by mutations in the cytochrome P450c17 gene (CYP17A1), and characterized by hypertension, hypokalemia, female sexual infantilism or male pseudohermaphroditism. We presented the clinical and biochemical characterization in two patients (a 13 year-old girl (46, XX) with hypokalemia and lack of ...[more]