title: Mutational screening of the INSL3 gene in azoospermic males with a history of cryptorchidism.
abstract: The insulin-like factor 3 (INSL3 ) gene encodes 131 amino acids, consisting of two exons. In human beings, mutations of this gene may lead to bilateral cryptorchidism and infertility. However, the role of INSL3 in male spermatogenesis still remains controversial. We have analysed the coding sequence of INSL3 by PCR and DNA sequencing in 97 azoospermic patients with a history of bilateral cryptorchidism (patient group) versus 49 males with obstructive azoospermia (control group). The G178A mutation, which were predicted to alter the protein sequence (alanine to threonine), was detected in the patient group but not in the control group. While synonymous mutations G27A and G126A were detected in the control group, each occurred only in a single sample. When the patient group were divided into two subgroups according to the testicular biopsy result: sperm+ subgroup (51 cases with spermatozoa can be detected) or sperm- subgroup (46 cases with spermatozoa could not be detected). The INSL3 G178A polymorphism was not significantly associated with spermatozoa or no spermatozoa in the testes of males with a history of bilateral cryptorchidism. In conclusion, the evidence suggests that mutations of INSL3 may not directly contribute to the damage of spermatogenesis in patients with bilateral cryptorchidism history.
authors: Shanxi Women and Children Health Hospital, Center of Reproductive Medicine, Xinghualing District, Taiyuan, Shanxi, China.
authors: X
authors: X
authors: Huang
authors: Department of pharmacy, First affiliated Hospital of Xiamen University, Xiamen, China.
authors: J
authors: J
authors: Jia
authors: Center of Reproductive Medicine, Department of Obstetrics and Gynecology, First affiliated Hospital of Xiamen University, Xiamen, China.
authors: M
authors: M
authors: Sun
authors: Center of Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
authors: M
authors: M
authors: Li
authors: Center of Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, China.
authors: N
authors: N
authors: Liu
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D053713:Azoospermia / Q000235:genetics*; D001483:Base Sequence; D001706:Biopsy; D016022:Case-Control Studies; D002681:China; D003456:Cryptorchidism / Q000235:genetics*; D005091:Exons; D056726:Genetic Association Studies; D006801:Humans; D007328:Insulin / Q000235:genetics* / Q000302:isolation & purification; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics* / Q000302:isolation & purification; D055101:Semen Analysis; D017422:Sequence Analysis, DNA; D013091:Spermatogenesis / Q000235:genetics*; D013737:Testis / Q000473:pathology*; D013912:Threonine / Q000235:genetics
chemical_list: D007328:Insulin; C084797:Leydig insulin-like protein; D011506:Proteins; D013912:Threonine; D000409:Alanine
keywords: Azoospermia; cryptorchidism; insulin-like factor 3; male infertility; polymorphism