Document Detail

Evidence that luteinising hormone receptor polymorphisms may contribute to male undermasculinisation.
MedLine Citation:
PMID:  12088926     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: The luteinising hormone receptor (LHR) is necessary for the stimulation of androgen production and male genital development. It contains three protein polymorphisms: a leucine and glutamine insertion between codons 8 and 9 (LQ+) and two amino acid substitutions (N291S, N312S). OBJECTIVES: To determine whether these LHR polymorphisms are associated with male genital undermasculinisation or the androgen receptor polyglutamine repeat polymorphism (AR(Q)n), which contributes in some cases to the cause of genital undermasculinisation. METHODS: The LHR polymorphisms were assessed by PCR amplification of genomic DNA, followed by restriction enzyme analysis. The frequency of the LHR polymorphisms were compared between an undermasculinised male group (n=75) and a control group (n=55). RESULTS: LQ+ was not independently associated with the undermasculinised group (P=0.09), but it was associated with increased AR(Q)n within the undermasculinised group (P=0.02), particularly for AR(Q)n lengths >or=26 (P=0.002). In the undermasculinised group, homozygosity for N291 (872A/A) was more frequent (P=0.05), whereas homozygosity for N312 (935A/A) was less frequent (P=0.05). The combination of the presence of 872A/A and the absence of 935A/A showed a stronger association with the undermasculinised group than either polymorphism independently (P=0.006). The odds ratio of this genotype compared with any other, between the undermasculinised and control groups was 3.28 (95% confidence interval (CI) 1.33 to 8.08). CONCLUSION: LHR polymorphisms may contribute to genital undermasculinisation.
Nigel P Mongan; Ieuan A Hughes; Han N Lim
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of endocrinology / European Federation of Endocrine Societies     Volume:  147     ISSN:  0804-4643     ISO Abbreviation:  Eur. J. Endocrinol.     Publication Date:  2002 Jul 
Date Detail:
Created Date:  2002-06-28     Completed Date:  2002-08-26     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9423848     Medline TA:  Eur J Endocrinol     Country:  England    
Other Details:
Languages:  eng     Pagination:  103-7     Citation Subset:  IM    
Department of Paediatrics, University of Cambridge, Box 116, Level 8, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.
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MeSH Terms
Genitalia, Male / abnormalities
Polymorphism, Single-Stranded Conformational*
Receptors, LH / genetics*
Sex Differentiation Disorders / genetics*
Reg. No./Substance:
0/Receptors, LH

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