Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: LHCGR
Precocious puberty, male (MIM#176410) is associated with gain-of-function mutations, which are mostly located within the sixth transmembrane domain and C-terminal region of the third intracellular loop. Autosomal recessive conditions on the other hand, are due to loss-of-function mutations. Inactivating mutations can vary in clinical severity.Created: 1 Jun 2021, 1:20 a.m. | Last Modified: 1 Jun 2021, 1:20 a.m.
Panel Version: 0.191
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320)
Publications
Gene: lhcgr has been classified as Green List (High Evidence).
Phenotypes for gene: LHCGR were changed from to Luteinizing hormone resistance, female, (MIM#238320); Leydig cell hypoplasia with pseudohermaphroditism, (MIM#238320); Leydig cell hypoplasia with hypergonadotropic hypogonadism, (MIM#238320)
Publications for gene: LHCGR were set to
Mode of inheritance for gene: LHCGR was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: LHCGR was added gene: LHCGR was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LHCGR was set to