LH and FSH receptor mutations and their effects on puberty.
Several mutations have been detected in the genes encoding the gonadotrophin receptors, and their phenotypic effects are observed in sexual differentiation, pubertal development and fertility of the affected individuals. Both activating and inactivating mutations are known for the gonadotrophin receptors. These mutations are rare, but they are very elucidating with respect to the details of gonadotrophin action, as well as clarifying the molecular pathogenesis of certain disorders in the development of reproductive functions. Proper diagnosis of these conditions by molecular biological techniques makes it possible to offer specific treatment for patients and proper counselling for patients and their families.
Huhtaniemi
Ilpo T
IT
Department of Physiology, University of Turku, Finland. ilpo.huhtaniemi@ic.ac.uk
D005260:Female; D006058:Gonadal Disorders / Q000235:genetics; D006801:Humans; D007246:Infertility / Q000235:genetics; D008297:Male; D009154:Mutation / Q000502:physiology*; D010641:Phenotype; D011627:Puberty / Q000235:genetics*; D011629:Puberty, Precocious / Q000235:genetics / Q000503:physiopathology; D011962:Receptors, FSH / Q000235:genetics*; D011974:Receptors, LH / Q000235:genetics*
D011962:Receptors, FSH; D011974:Receptors, LH