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Familial Leydig Cell Hypoplasia as a Cause of Male Pseudohermaphroditism
Human Heredity, 1987A case of familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism is described in two 46,XY female sibs. Biochemical and histologic evidence for such diagnosis is presented.
Samia A Temtamy +2 more
exaly +3 more sources
Detection of Rare Leydig Cell Hypoplasia in Somatic Cell Cloned Male Piglets
Zygote, 2004In this investigation, 22 cloned male piglets were obtained by male fetal fibroblast-cell-derived nuclear transfer. Eighteen of the cloned animals died. The two cell lines did not differ significantly with regard to efficiency of live piglet production. The gross anatomy of the testes of male piglets that died was normal.
Seongkeun Cho +2 more
exaly +3 more sources
Hypogonadism and Leydig Cell Hypoplasia Unresponsive to Human Luteinizing Hormone (hLH)
American Journal of the Medical Sciences, 1984A 22-year-old man with hypogonadism, Leydig cell hypoplasia, high plasma LH, and normal plasma FSH was given human chorionic gonadotropin (hCG) and human luteinizing hormone (hLH) in order to assess testicular testosterone responses to exogenously administered gonadotropins.
R H Wu
exaly +3 more sources
Endocrine Research, 2005
We report a novel mutant of the luteinizing hormone receptor (LHR) in a case of familial Leydig cell hypoplasia and pseudohermaphrotidism. The proband was homozygous for two missense mutations, T1121C and C1175T, causing substitutions I374T and T3921. The molecular effects of the mutations were investigated by heterologous expression of the WT LHR, the
Yehia Z Gad +2 more
exaly +3 more sources
We report a novel mutant of the luteinizing hormone receptor (LHR) in a case of familial Leydig cell hypoplasia and pseudohermaphrotidism. The proband was homozygous for two missense mutations, T1121C and C1175T, causing substitutions I374T and T3921. The molecular effects of the mutations were investigated by heterologous expression of the WT LHR, the
Yehia Z Gad +2 more
exaly +3 more sources
Novel Mutations of the LHCGR Gene in Two Families With 46,XY DSD Causing Leydig Cell Hypoplasia I
Hormones, 2020Leydig cell hypoplasia is a rare autosomal recessive 46,XY disorder of sexual development (DSD). It is caused by homozygous or compound heterozygous inactivating mutations in the human luteinizing hormone/chorionic gonadotropin hormone receptor (LHCGR) gene.
Heba Amin Hassan, Inas Mazen
exaly +3 more sources
Normal Expression of the Serologically Defined H-Y Antigen in Leydig Cell Hypoplasia
Journal of Urology, 1988H-Y antigen, the proposed inducer of testicular organogenesis, was determined serologically in 3 patients with male pseudohermaphroditism due to Leydig cell hypoplasia, a pathological model with lack of Leydig cell differentiation but normal seminiferous tubule embryogenesis.
Ivo J P Arnhold +2 more
exaly +3 more sources
American Journal of Medical Genetics, Part A, 2004
AbstractLoss‐of‐function mutations/inactivating mutations of the human chorionic gonadotropin/luteinizing hormone receptor (hCG/LHR), a G‐protein coupled receptor, lead to impaired Leydig cell differentiation. Leydig cell hypoplasia/agenesis/dysplasia (LCH) is one of the causes of male pseudohermaphroditism (MPH).
Wai Yee Chan +2 more
exaly +3 more sources
AbstractLoss‐of‐function mutations/inactivating mutations of the human chorionic gonadotropin/luteinizing hormone receptor (hCG/LHR), a G‐protein coupled receptor, lead to impaired Leydig cell differentiation. Leydig cell hypoplasia/agenesis/dysplasia (LCH) is one of the causes of male pseudohermaphroditism (MPH).
Wai Yee Chan +2 more
exaly +3 more sources
Molecular and Cellular Endocrinology, 2013
The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is essential for normal male sex differentiation. Recently, the additional primate-specific exon 6A of the LHCGR was discovered and it was shown to act as regulatory element at the transcriptional level.
Jörg Gromoll +2 more
exaly +3 more sources
The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is essential for normal male sex differentiation. Recently, the additional primate-specific exon 6A of the LHCGR was discovered and it was shown to act as regulatory element at the transcriptional level.
Jörg Gromoll +2 more
exaly +3 more sources
Molecular and Cellular Endocrinology, 2005
Inactivating mutations in the LH receptor are the predominant cause for male pseudohermaphroditism in subjects with Leydig cell hypoplasia (LCH). The severity of the mutations, correlates with residual receptor activities. Here, we detail the clinical presentation of one subject with complete male pseudohermaphroditism and LCH.
Wael A. Salameh, Wai Yee Chan, L Zahed
exaly +3 more sources
Inactivating mutations in the LH receptor are the predominant cause for male pseudohermaphroditism in subjects with Leydig cell hypoplasia (LCH). The severity of the mutations, correlates with residual receptor activities. Here, we detail the clinical presentation of one subject with complete male pseudohermaphroditism and LCH.
Wael A. Salameh, Wai Yee Chan, L Zahed
exaly +3 more sources
Advances in Experimental Medicine and Biology, 2011
Leydig cell hypoplasia (LCH) due to inactivating mutations of luteinizing hormone receptor gene (LHCGR) is a relatively rare form of 46,XY disorder of sex development (DSD). LCH is inherited in an autosomal recessive manner, which leads to aberration of Leydig cell differentiation and ultimately subnormal androgen production both pre- and postnatally ...
Amrit Bhangoo, Jörg Gromoll
exaly +3 more sources
Leydig cell hypoplasia (LCH) due to inactivating mutations of luteinizing hormone receptor gene (LHCGR) is a relatively rare form of 46,XY disorder of sex development (DSD). LCH is inherited in an autosomal recessive manner, which leads to aberration of Leydig cell differentiation and ultimately subnormal androgen production both pre- and postnatally ...
Amrit Bhangoo, Jörg Gromoll
exaly +3 more sources