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Leydig cell hypoplasia due to partial LH resistance

MedGen UID:
1739565
•Concept ID:
C5438975
•
Disease or Syndrome
Synonyms: 46,XY disorder of sex developement due to partial LH receptor inactivation; 46,XY disorder of sex developement due to partial LH resistance; 46,XY disorder of sex developement due to partial luteinizing hormone resistance; 46,XY disorder of sex development due to partial LH receptor inactivation; 46,XY disorder of sex development due to partial LH resistance; 46,XY disorder of sex development due to partial luteinizing hormone resistance; 46,XY DSD due to partial LH receptor inactivation; 46,XY DSD due to partial LH resistance; 46,XY DSD due to partial luteinizing hormone resistance; Leydig cell hypoplasia due to partial LH receptor inactivation; Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to partial luteinizing hormone resistance
SNOMED CT: Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation (1003438004)
 
Monarch Initiative: MONDO:0019931
Orphanet: ORPHA96266

Definition

This is a rare autosomal recessive genetic and endocrine syndrome, characterised by a partial inability of the body to respond to luteinising hormone (LH), a gonadotropin which is normally responsible for signalling Leydig cells of the testicles to produce testosterone. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeydig cell hypoplasia due to partial LH resistance

Professional guidelines

PubMed

Inactivating mutations of LH and FSH receptors--from genotype to phenotype.
Latronico AC, Arnhold IJ
Pediatr Endocrinol Rev 2006 Sep;4(1):28-31. PMID: 17021580

Recent clinical studies

Diagnosis

Molecular basis of androgen insensitivity.
Brinkmann AO
Mol Cell Endocrinol 2001 Jun 20;179(1-2):105-9. doi: 10.1016/s0303-7207(01)00466-x. PMID: 11420135

Clinical prediction guides

A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.
Vezzoli V, Duminuco P, Vottero A, Kleinau G, Schülein R, Minari R, Bassi I, Bernasconi S, Persani L, Bonomi M
Hum Mol Genet 2015 Nov 1;24(21):6003-12. Epub 2015 Aug 5 doi: 10.1093/hmg/ddv313. PMID: 26246498
Molecular basis of androgen insensitivity.
Brinkmann AO
Mol Cell Endocrinol 2001 Jun 20;179(1-2):105-9. doi: 10.1016/s0303-7207(01)00466-x. PMID: 11420135

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