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Leydig cell hypoplasia due to complete LH resistance

MedGen UID:
1776152
•Concept ID:
C5438974
•
Disease or Syndrome
Synonyms: 46,XY disorder of sex development due to complete LH receptor inactivation; 46,XY disorder of sex development due to complete LH resistance; 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation; 46,XY disorder of sex development due to complete luteinizing hormone resistance; 46,XY DSD due to complete LH receptor inactivation; 46,XY DSD due to complete LH resistance; 46,XY DSD due to complete luteinizing hormone receptor inactivation; 46,XY DSD due to complete luteinizing hormone resistance; Leydig cell hypoplasia due to complete LH receptor inactivation; Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to complete luteinizing hormone resistance
SNOMED CT: Leydig cell hypoplasia due to complete LH receptor inactivation (1003437009); Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation (1003437009)
 
Monarch Initiative: MONDO:0019930
Orphanet: ORPHA96265

Definition

This is a rare autosomal recessive genetic and endocrine syndrome, characterised by a complete 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 complete 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
An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female.
Toledo SP, Brunner HG, Kraaij R, Post M, Dahia PL, Hayashida CY, Kremer H Themmen AP
J Clin Endocrinol Metab 1996 Nov;81(11):3850-4. doi: 10.1210/jcem.81.11.8923827. PMID: 8923827

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