Recent Advances in the Molecular Mechanisms Causing Primary Generalized Glucocorticoid Resistance
April 2016
in “
Hormones
”
glucocorticoid resistance NR3C1 gene glucocorticoid receptor hypertension hypokalemic alkalosis ambiguous genitalia precocious puberty acne hirsutism male-pattern hair loss hypofertility dexamethasone suppression test synthetic glucocorticoids dexamethasone glucocorticoid signaling high blood pressure low potassium levels early puberty excessive hair growth male-pattern baldness infertility dexamethasone test
TLDR Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
The document from April 15, 2016, explored the molecular mechanisms behind Primary Generalized Glucocorticoid Resistance, a rare condition caused by mutations in the NR3C1 gene, which encodes the human glucocorticoid receptor (hGR). The researchers identified three novel heterozygous point mutations in the NR3C1 gene, each leading to different symptoms and impairments in glucocorticoid signaling. Symptoms of this condition can include hypertension, hypokalemic alkalosis, ambiguous genitalia in karyotypic females, precocious puberty, acne, hirsutism, male-pattern hair loss, and hypofertility in both sexes. The dexamethasone suppression test was identified as a key diagnostic tool, and treatment involved high doses of synthetic glucocorticoids like dexamethasone. The researchers recommended sequencing analysis of the NR3C1 gene and other genes involved in glucocorticoid signal transduction when the condition is suspected.
