title: Are anti-Müllerian hormone and its receptor polymorphism associated with the hormonal condition of undescended testes?
abstract: OBJECTIVE
  Numerous genetic and endocrine factors are involved in the process of testicular descent, but only a few genetic causes have been reported in human. The aim of this study was to investigate the density and distribution of single nucleotide polymorphisms (SNPs) anti-Müllerian hormone (AMH) and AMHRII receptors in cryptorchid patients and determine potential hormone imbalance connected with undescended testes by assessing the levels of AMH, Insulin-like factor 3 (INSL3) and inhibin B.
  
  
  METHODS
  The serum hormone levels (AMH, INSL3 and inhibin B) were compared in the two groups - cryptorchidism (n=105) and control group (n=58). The frequency of AMHRII -482 A>G, AMHRII IVS 10+77 A>G, AMHRII IVS 5-6 C>T, and AMH Ile49Ser polymorphisms among cryptorchid boys were compared with the control group.
  
  
  RESULTS
  None of the hormones levels were different between the cryptorchid and the control groups. All cases of IVS 5-6 C>T homozygote and heterozygote mutation were accompanied by an IVS 10+77 A>G and 482 A>G homozygote and heterozygote mutation. Interestingly, in most cases of all four polymorphisms, homozygote recessive genotype was associated with cases of cryptorchidism. However, the groups of patients were too small to draw definite conclusions.
  
  
  CONCLUSIONS
  The AMHRII -482 A>G, AMHRII IVS 10+77 A>G, AMHRII IVS 5-6 C>T and AMH Ile49Ser genotypes should be determined in a much larger group of boys with cryptorchidism.
authors.affiliation: Department of Pediatric Surgery, Medical University of Bialystok, Bialystok, Poland.
authors.forename: Marta Diana
authors.initials: MD
authors.lastname: Komarowska
authors.affiliation: Department of Statistics and Medical Informatics, Medical University of Bialystok, Bialystok, Poland.
authors.forename: Robert
authors.initials: R
authors.lastname: Milewski
authors.affiliation: Department of Clinical Molecular Biology, Medical University of Bialystok, Bialystok, Poland.
authors.forename: Radosław
authors.initials: R
authors.lastname: Charkiewicz
authors.affiliation: Department of Pediatric Surgery, Medical University of Bialystok, Bialystok, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Matuszczak
authors.affiliation: Department of Clinical Molecular Biology, Medical University of Bialystok, Bialystok, Poland.
authors.forename: Anetta
authors.initials: A
authors.lastname: Sulewska
authors.affiliation: Department of Pediatric Laboratory Diagnostics, Medical University of Bialystok, Bialystok, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Zelazowska-Rutkowska
authors.affiliation: Department of Clinical Pharmacy and Department of Pharmacodynamics, Medical University of Bialystok, Bialystok, Poland.
authors.forename: Justyna
authors.initials: J
authors.lastname: Hermanowicz
authors.affiliation: Department of Clinical Molecular Biology, Medical University of Bialystok, Bialystok, Poland.
authors.forename: Jacek
authors.initials: J
authors.lastname: Niklinski
authors.affiliation: Department of Pediatric Surgery, Medical University of Bialystok, Bialystok, Poland.
authors.forename: Wojciech
authors.initials: W
authors.lastname: Debek
authors.affiliation: Department of Pediatric Surgery, Medical University of Bialystok, Bialystok, Poland. Electronic address: ahermanowicz@wp.pl.
authors.forename: Adam
authors.initials: A
authors.lastname: Hermanowicz
mesh_terms: D054304:Anti-Mullerian Hormone / Q000235:genetics*; D016022:Case-Control Studies; D002675:Child, Preschool; D003456:Cryptorchidism / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007265:Inhibins; D007328:Insulin; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins; D018000:Receptors, Peptide / Q000235:genetics*; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*
chemical_list: D007328:Insulin; C084797:Leydig insulin-like protein; D011506:Proteins; D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; C084621:anti-Mullerian hormone receptor; C422364:inhibin B; D007265:Inhibins; D054304:Anti-Mullerian Hormone
keywords: AMH; AMHRII polymorphism; INSL-3; Inhibin B; Undescended testis