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Leydig Cell Hypoplasia

Known as: LH Resistance Due To LH Receptor Deactivation 
National Institutes of Health

Related topics

Related topics

4 relations

Broader (2)

46, XY Disorders of Sex DevelopmentTestis
Leydig Cell Hypoplasia, Type II

Narrower (1)

Leydig cell agenesis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.
The human luteinizing hormone/chorionic gonadotropin receptor (LHCGR) plays a fundamental role in male and female reproduction… 
2011
2011
Leydig cell hypoplasia due to inactivating luteinizing hormone/chorionic gonadotropin receptor gene mutation presenting as a 46,XY DSD.
Leydig cell hypoplasia (LCH) due to inactivating mutations of luteinizing hormone receptor gene (LHCGR) is a relatively rare form… 
Highly Cited
2008
Highly Cited
2008
Mutations in a Novel, Cryptic Exon of the Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Cause Male Pseudohermaphroditism
Background Male pseudohermaphroditism, or Leydig cell hypoplasia (LCH), is an autosomal recessive disorder in individuals with a… 
2005
2005
Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis.
Leydig cell hypoplasia (LCH) is a rare autosomal recessive condition that interferes with normal development of male external… 
2004
2004
Detection of rare Leydig cell hypoplasia in somatic cell cloned male piglets
In this investigation, 22 cloned male piglets were obtained by male fetal fibroblast-cell-derived nuclear transfer. Eighteen of… 
Review
1999
Review
1999
Male pseudohermaphroditism due to inactivating luteinizing hormone receptor mutations.
Highly Cited
1998
Highly Cited
1998
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.
Leydig cell hypoplasia (LCH) is characterized by a decreased response of the Leydig cells to LH. As a result, patients with this… 
Review
1998
Review
1998
Molecular genetic, biochemical, and clinical implications of gonadotropin receptor mutations.
Human reproductive function is regulated mainly by luteinizing hormone (LH) and follicle-stimulating hormone (FSH). Mutations of… 
Highly Cited
1996
Highly Cited
1996
Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia.
The human LH receptor (hLHR) is a member of the G protein-coupled receptors characterized by the presence of seven-transmembrane… 
Highly Cited
1995
Highly Cited
1995
A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia.
Leydig cell hypoplasia (LCH) is a form of male pseudohermaphroditism in which Leydig cell differentiation and testosterone… 
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