Endocrine Abstracts

The gonadotropic hormones, LH and FSH are critical regulators of normal sexual functions including steroidogenesis and gametogenesis. Their essential role is underscored by the development of various hypogonadal phenotypes arising from genetic mutations. Constitutive activation of their cognate receptors also disturbs their function. We earlier showed that transgenic expression of an activating mouse Fshr mutant (mFSHRD580H) in granulosa c...

Strong gain-of-function mutations have not been identified in humans in the FSH receptor (FSHR), while such mutations are common among many other G-protein-coupled receptors. In order to predict consequences of such mutations on humans, D580 (D6.44) mutant forms of mouse (m) FSHR were expressed under the human anti-Müllerian hormone promoter in transgenic mice. Transgenic expression of mFshrD580H in granulosa cells led to abnormal ovarian structur...