Genetics of Hypogonadotropic Hypogonadism.
In Endocr Dev, Dec 2015
GNRHR and TACR3 should be the first two genes to be screened in a clinical setting for equivocal cases such as constitutional delay in puberty versus idiopathic HH.
Pregnancy, Primary Aldosteronism, and Adrenal CTNNB1 Mutations.
Cambridge, United Kingdom. In N Engl J Med, Nov 2015
Their aldosterone-producing adenomas harbored activating mutations of CTNNB1, encoding β-catenin in the Wnt cell-differentiation pathway, and expressed LHCGR and GNRHR, encoding gonadal receptors, at levels that were more than 100 times as high as the levels in other aldosterone-producing adenomas.
A genetic basis for functional hypothalamic amenorrhea.
Boston, United States. In N Engl J Med, 2011
RESULTS: Six heterozygous mutations were identified in 7 of the 55 patients with hypothalamic amenorrhea: two variants in the fibroblast growth factor receptor 1 gene FGFR1 (G260E and R756H), two in the prokineticin receptor 2 gene PROKR2 (R85H and L173R), one in the GnRH receptor gene GNRHR (R262Q), and one in the Kallmann syndrome 1 sequence gene KAL1 (V371I).
Gonadotropin-releasing hormone receptors.
Edinburgh, United Kingdom. In Endocr Rev, 2004
Although the predominant coupling of the type I GnRH receptor in the gonadotrope is through productive G(q) stimulation, signal transduction can occur via other G proteins and potentially by G protein-independent means.