Condition: Familial Testotoxicosis


rs121912521 in GTF2A1L;LHCGR;STON1-GTF2A1L gene and Familial Testotoxicosis PMID 7692306 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 8281137 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

PMID 11391350 2001 Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.

PMID 11134146 2000 Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

PMID 7629248 1995 A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

PMID 8929952 1996 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.

PMID 9661624 1998 A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.

PMID 8829636 1996 A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

PMID 9467560 1998 A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.

PMID 7714085 1995 A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.

PMID 7757065 1995 Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 8829636 1996 A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

rs121912531 in LHCGR;GTF2A1L;STON1-GTF2A1L gene and Familial Testotoxicosis PMID 9467560 1998 A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.

PMID 8929952 1996 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.

PMID 9661624 1998 A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.

PMID 7757065 1995 Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 7714085 1995 A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.

PMID 7692306 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 7629248 1995 A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

PMID 8281137 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

PMID 11391350 2001 Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.

PMID 11134146 2000 Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

PMID 8829636 1996 A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

PMID 11134146 2000 Lastly, the identification of a novel activating L368P mutation in the first transmembrane helix of two Brazilian boys with familial male-limited precocious puberty provides further insights into the mechanism of activation of the hLHR.

rs121912518 in LHCGR;STON1-GTF2A1L;GTF2A1L gene and Familial Testotoxicosis PMID 8281137 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

PMID 7757065 1995 Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 7692306 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 8929952 1996 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.

PMID 11391350 2001 Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.

PMID 7629248 1995 A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

PMID 11134146 2000 Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

PMID 7714085 1995 We conclude that the constitutively higher cAMP levels caused by the A572V mutation led to Leydig cell activation and male-limited precocious puberty, as in the previously described D578G mutation.

PMID 9467560 1998 A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.

PMID 8829636 1996 A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

PMID 9661624 1998 A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.

PMID 7714085 1995 A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.

rs121912534 in STON1-GTF2A1L;GTF2A1L;LHCGR gene and Familial Testotoxicosis PMID 9467560 1998 A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.

PMID 11391350 2001 Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.

PMID 7714085 1995 A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.

PMID 7629248 1995 A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

PMID 9661624 1998 A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.

PMID 8281137 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

PMID 8829636 1996 A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

PMID 8929952 1996 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.

PMID 11134146 2000 Our studies show that the A568V is the most frequent cause of male-limited precocious puberty in Brazilian boys.

PMID 7757065 1995 Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 7692306 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.

rs121912522 in STON1-GTF2A1L;LHCGR;GTF2A1L gene and Familial Testotoxicosis PMID 7757065 1995 Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 9661624 1998 A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.

PMID 9467560 1998 A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty.

PMID 7692306 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.

PMID 8829636 1996 A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.

PMID 11134146 2000 Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: a novel constitutively activating mutation in the first transmembrane helix.

PMID 7714085 1995 We conclude that the constitutively higher cAMP levels caused by the A572V mutation led to Leydig cell activation and male-limited precocious puberty, as in the previously described D578G mutation.

PMID 8929952 1996 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.

PMID 7629248 1995 A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty.

PMID 11391350 2001 Nodular Leydig cell hyperplasia in a boy with familial male-limited precocious puberty.

PMID 8281137 1993 Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

PMID 7714085 1995 A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.