Marta Diana Komarowska1, Robert Milewski2, Radosław Charkiewicz3, Ewa Matuszczak1, Anetta Sulewska3, Beata Zelazowska-Rutkowska4, Justyna Hermanowicz5, Jacek Niklinski3, Wojciech Debek1, Adam Hermanowicz6. 1. Department of Pediatric Surgery, Medical University of Bialystok, Bialystok, Poland. 2. Department of Statistics and Medical Informatics, Medical University of Bialystok, Bialystok, Poland. 3. Department of Clinical Molecular Biology, Medical University of Bialystok, Bialystok, Poland. 4. Department of Pediatric Laboratory Diagnostics, Medical University of Bialystok, Bialystok, Poland. 5. Department of Clinical Pharmacy and Department of Pharmacodynamics, Medical University of Bialystok, Bialystok, Poland. 6. Department of Pediatric Surgery, Medical University of Bialystok, Bialystok, Poland. Electronic address: ahermanowicz@wp.pl.
Abstract
PURPOSE: 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. MATERIALS AND 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. CONCLUSION: 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.
PURPOSE: 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. MATERIALS AND 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 AMHIle49Ser 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. CONCLUSION: The AMHRII -482 A>G, AMHRII IVS 10+77 A>G, AMHRII IVS 5-6 C>T and AMHIle49Ser genotypes should be determined in a much larger group of boys with cryptorchidism.
Authors: Romina P Grinspon; Silvia Gottlieb; Patricia Bedecarrás; Rodolfo A Rey Journal: Front Endocrinol (Lausanne) Date: 2018-04-25 Impact factor: 5.555
Authors: Wiwat Rodprasert; Helena E Virtanen; Juho-Antti Mäkelä; Jorma Toppari Journal: Front Endocrinol (Lausanne) Date: 2020-01-15 Impact factor: 5.555