Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría, Ciudad de México, México.
Posgrado en Ciencias Naturales e Ingeniería, Universidad Autónoma Metropolitana, Unidad Cuajimalpa, Ciudad de México, México.
J Pediatr Endocrinol Metab. 2021 Apr 12;34(7):843-849. doi: 10.1515/jpem-2020-0378. Print 2021 Jul 27.
Cryptorchidism is the most common genitourinary birth defect in live newborn males and is considered as an important risk factor for testicular germ cell tumors and infertility. The Androgen Receptor gene is important in this pathology due to its participation, mainly, in the inguinoscrotal phase of testicular descent. We determine the length of the CAG tract in the Androgen Receptor () gene in Mexican patients with nonsyndromic cryptorchidism.
One hundred and 15 males were included; of these, 62 had nonsyndromic cryptorchidism and 53 were healthy volunteers. DNA was extracted from a peripheral blood samples, subsequently, the CAG tract in exon 1 of gene was amplified by PCR and sequenced.
Mexican patients with nonsyndromic cryptorchidism presented 25.03 ± 2.58 repeats of CAG tract in the gene compared to 22.72 ± 3.17 repeats of CAG tract in Mexican healthy individuals (p≤0.0001; value of 4.3). Furthermore, the deletion of codon 57 that corresponds to the deletion of a leucine residue at position 57 (Del L57) in the gene was found for the first time in a nonsyndromic cryptorchidism patient. This molecular alteration has been related previously to testicular germ cell tumor (TGCT).
The CAG tract in the gene is longer in patients with nonsyndromic cryptorchidism than in healthy individuals, supporting the association between this polymorphism of the gene and nonsyndromic cryptorchidism in the Mexican population.
隐睾症是活产男婴中最常见的泌尿生殖系统先天缺陷，被认为是睾丸生殖细胞肿瘤和不育的重要危险因素。雄激素受体基因在这一病理过程中很重要，因为它主要参与睾丸下降的腹股沟-阴囊期。我们在墨西哥非综合征型隐睾症患者中确定雄激素受体（AR）基因中的 CAG 重复序列的长度。
共纳入 115 名男性；其中 62 名患有非综合征型隐睾症，53 名是健康志愿者。从外周血样本中提取 DNA，随后通过 PCR 扩增和测序，对 基因外显子 1 中的 CAG 重复序列进行扩增。
与墨西哥健康个体的 22.72±3.17 个 CAG 重复序列相比，患有非综合征型隐睾症的墨西哥患者的 AR 基因中 CAG 重复序列为 25.03±2.58 个（p≤0.0001；4.3 的 值）。此外，在一名非综合征型隐睾症患者中首次发现 AR 基因中缺失密码子 57，该密码子对应于 57 位亮氨酸残基的缺失（Del L57）。这种分子改变先前与睾丸生殖细胞肿瘤（TGCT）有关。
AR 基因中的 CAG 重复序列在非综合征型隐睾症患者中比在健康个体中更长，支持该基因多态性与墨西哥人群中非综合征型隐睾症之间的关联。
