[Activating mutations of the gonadotrophin receptors].
The different types of activating mutations of LH and FSH receptors genes are described. They result in a constitutive permanent activation of the LH or FSH function responsible for functional disorders which is also observed in some ovarian tumours. Two types of functional disorders have been reported: male precocious puberty through activating mutation of the LH receptor, male fertility in the absence of FSH through activating mutation of the FSH receptor. Activating mutations of the FSH receptor observed in certain ovarian tumours result in hypersecretion of oestrogens.
Beck-Peccoz
P
P
Istituto Clinico Humanitas, Rozzano, Milano, Italie.
Persani
L
L
Romoli
R
R
Asteria
C
C
Borgato
S
S
D005260:Female; D006801:Humans; D007246:Infertility / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D010641:Phenotype; D011629:Puberty, Precocious / Q000235:genetics*; D011962:Receptors, FSH / Q000235:genetics*; D011974:Receptors, LH / Q000235:genetics*
D011962:Receptors, FSH; D011974:Receptors, LH
Mutations activantes des récepteurs des gonadotrophines.