|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.
|
11391350 |
2001 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.
|
11134146 |
2000 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.
|
9467560 |
1998 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.
|
9661624 |
1998 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.
|
8929952 |
1996 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.
|
8829636 |
1996 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.
|
7629248 |
1995 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.
|
7757065 |
1995 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.
|
7714085 |
1995 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.
|
8281137 |
1993 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.
|
7692306 |
1993 |
|
Familial Testotoxicosis
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Leydig Cell Tumor
|
|
0.700 |
GeneticVariation
|
UNIPROT |
|
|
|
|
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Adenoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Although several LHR mutations have been reported in testotoxicosis, the D578H-LHR mutation, which has been found only as a somatic mutation, appears up until now to be specifically responsible for Leydig cell adenomas.
|
21490077 |
2011 |
|
Adenoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
the somatic activating mutation (Asp578His) of the luteinising hormone receptor gene is not only present in Leydig cell adenomas, but can also be found in nodular Leydig cell hyperplasia.
|
12447668 |
2002 |
|
Adenoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
Three gain-of-function mutations associated with Leydig cell hyperplasia (L457R and D578Y) and one associated with Leydig cell adenomas (D578H), one signaling-impaired mutation associated with Leydig cell hypoplasia (I625K), and two laboratory designed signaling-impaired mutations (D405N and Y546F) were used.
|
11075813 |
2000 |
|
Testotoxicosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
He presented with precocious puberty at 10 months of age and was diagnosed with testotoxicosis due to a de novo heterozygous Asp578Tyr mutation in LHCGR.
|
29029242 |
2017 |
|
Testotoxicosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Functional studies were conducted to compare the D578H-LHR mutant with the wild-type (WT)-LHR and the D578G-LHR mutant, a classic cause of testotoxicosis.
|
21490077 |
2011 |
|
Leydig cell hyperplasia
|
|
0.020 |
GeneticVariation
|
BEFREE |
the somatic activating mutation (Asp578His) of the luteinising hormone receptor gene is not only present in Leydig cell adenomas, but can also be found in nodular Leydig cell hyperplasia.
|
12447668 |
2002 |
|
Leydig cell hyperplasia
|
|
0.020 |
GeneticVariation
|
BEFREE |
Three gain-of-function mutations associated with Leydig cell hyperplasia (L457R and D578Y) and one associated with Leydig cell adenomas (D578H), one signaling-impaired mutation associated with Leydig cell hypoplasia (I625K), and two laboratory designed signaling-impaired mutations (D405N and Y546F) were used.
|
11075813 |
2000 |
|
Precocious Puberty
|
|
0.010 |
GeneticVariation
|
BEFREE |
He presented with precocious puberty at 10 months of age and was diagnosed with testotoxicosis due to a de novo heterozygous Asp578Tyr mutation in LHCGR.
|
29029242 |
2017 |
|
Nodule
|
|
0.010 |
GeneticVariation
|
BEFREE |
The D578H-LHR mutation was found in the adenoma or nodule with hyperplasia in all but two patients.
|
21490077 |
2011 |
|
Carcinogenesis
|
|
0.010 |
GeneticVariation
|
BEFREE |
This is reflected by the different activation of the signal transduction pathways, when compared with the WT-LHR or D578G-LHR, which may explain the tumorigenesis in the D578H mutant.
|
21490077 |
2011 |
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Recently, it was demonstrated that a somatic heterozygous activating mutation of the LHR gene (Asp578His), limited to the tumor, was the cause of Leydig cell adenomas in three unrelated patients.
|
11857565 |
2002 |