Zhejiang Da Xue Xue Bao Yi Xue Ban
September 2014
It has been proven that familial aldosteronism type I is related to 11-beta hydroxylase (CYP11B1)/aldosterone synthase (CYP11B2) chimeric genes. In recent years, accumulated evidences indicate that the genetic basis of primary aldosteronism may involve chromosome 7p22 candidate genes, polymorphisms of CYP11B1 and CYP11B2 genes, mutations of ion channel- related KCNJ5, ATP1A1, CACNA1D genes. The article reviews the progress on genetic basis of primary aldosteronism.
View Article and Find Full Text PDFGynecol Endocrinol
October 2014
Objective: To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis.
Case: A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature.