Familial Glucocorticoid Resistance Caused by a Novel Frameshift Glucocorticoid Receptor Mutation

Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.

CONTEXT Familial glucocorticoid resistance is a rare condition with a typical presentation of women with hirsutism and hypertension, with or without hypokalemia. OBJECTIVE The aim was to determine the cause of apparent glucocorticoid resistance in a young woman. PATIENTS AND METHODS We studied a family with a novel glucocorticoid receptor (GR) mutation and a surprisingly mild phenotype. The...

Familial Hypercholesterolemia in Iran: A Novel Frameshift Mutation in Low Density Lipoprotein Receptor (LDLR) Gene

  Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...

Familial/Sporadic Glucocorticoid Resistance

Glucocorticoid resistance caused by reduced expression of the glucocorticoid receptor in cells from human vascular lesions.

Mechanisms that control the balance between cell proliferation and death are important in the development of vascular lesions. Rat primary smooth muscle cells were 80% inhibited by low microgram doses of hydrocortisone (HC) and 50% inhibited by nanogram concentrations of transforming growth factor-beta1 (TGF-beta1), although some lines acquired resistance in late passage. However, comparable do...

familial hypercholesterolemia in iran: a novel frameshift mutation in low density lipoprotein receptor (ldlr) gene

background and objective: familial hypercholesterolemia (fh) is an autosomal trait, which is caused by mutations in low density lipoprotein receptor (ldlr) gene. fh penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. the patients are at risk of premature coronary heart disease (chd) due to defective ldlr and hence cho...