Condition: Leydig cell agenesis


rs121912529 in GTF2A1L;LHCGR;STON1-GTF2A1L gene and Leydig cell agenesis PMID 15372531 2004 A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.

PMID 8559204 1996 Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

PMID 9215288 1997 Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.

PMID 12050206 2002 Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.

PMID 7719343 1995 Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.

PMID 15472221 2004 Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.

PMID 9626653 1998 A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.

PMID 9514160 1998 A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

PMID 9626144 1998 A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.

PMID 19551906 2009 A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.

rs121912520 in GTF2A1L;STON1-GTF2A1L;LHCGR gene and Leydig cell agenesis PMID 15472221 2004 Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.

PMID 19551906 2009 A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.

PMID 9626653 1998 A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.

PMID 7719343 1995 We have studied two Leydig cell hypoplasia patients (siblings born to consanguineous parents), and found them to be homozygous for a missense mutation (Ala593Pro) in the sixth transmembrane domain of the luteinizing hormone (LH) receptor gene.

PMID 15372531 2004 A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.

PMID 9626144 1998 A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.

PMID 9514160 1998 A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

PMID 8559204 1996 Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

PMID 9215288 1997 Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.

PMID 12050206 2002 Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.

PMID 7719343 1995 Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.

rs121912536 in LHCGR;GTF2A1L;STON1-GTF2A1L gene and Leydig cell agenesis PMID 19551906 2009 A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.

PMID 8559204 1996 Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

PMID 9215288 1997 Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.

PMID 15372531 2004 A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.

PMID 15472221 2004 Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.

PMID 9626144 1998 A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.

PMID 12050206 2002 Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.

PMID 9626653 1998 A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.

PMID 7719343 1995 Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.

PMID 9514160 1998 A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

rs121912537 in STON1-GTF2A1L;GTF2A1L;LHCGR gene and Leydig cell agenesis PMID 15472221 2004 Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.

PMID 9626144 1998 A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.

PMID 12050206 2002 Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.

PMID 19551906 2009 A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.

PMID 7719343 1995 Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.

PMID 8559204 1996 Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

PMID 15372531 2004 A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.

PMID 9626653 1998 A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.

PMID 9215288 1997 Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.

PMID 9514160 1998 A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

rs121912525 in STON1-GTF2A1L;LHCGR;GTF2A1L gene and Leydig cell agenesis PMID 7719343 1995 Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.

PMID 12050206 2002 Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.

PMID 8559204 1996 Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

PMID 9215288 1997 Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.

PMID 19551906 2009 A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.

PMID 15372531 2004 A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia.

PMID 9514160 1998 A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor.

PMID 15472221 2004 Leydig cell hypoplasia: absent luteinizing hormone receptor cell surface expression caused by a novel homozygous mutation in the extracellular domain.

PMID 9626653 1998 A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.

PMID 9626144 1998 A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.