Analysis of the CAG tract length in the Androgen Receptor gene in Mexican patients with nonsyndromic cryptorchidism
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Daniel A. Landero-Huerta
Abstract
Objectives
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 (AR) gene in Mexican patients with nonsyndromic cryptorchidism.
Methods
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 AR gene was amplified by PCR and sequenced.
Results
Mexican patients with nonsyndromic cryptorchidism presented 25.03 ± 2.58 repeats of CAG tract in the AR gene compared to 22.72 ± 3.17 repeats of CAG tract in Mexican healthy individuals (p≤0.0001; t 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 AR 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).
Conclusions
The CAG tract in the AR gene is longer in patients with nonsyndromic cryptorchidism than in healthy individuals, supporting the association between this polymorphism of the AR gene and nonsyndromic cryptorchidism in the Mexican population.
Funding source: Instituto Nacional de Pediatría (INP)
Funding source: CONACyT FOSISS
Award Identifier / Grant number: 272641
Acknowledgements
CONACyT for the scholarship granted to Daniel Adrian Landero Huerta (No. 429258). Daniel Landero submitted this article to fulfill the graduate requirements for PhD degree program at Posgrado en Ciencias Naturales e Ingeniería of Universidad Autónoma Metropolitana, Unidad Cuajimalpa.
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Research funding: CONACyT FOSISS (Project number 272641) and Instituto Nacional de Pediatría (INP): 01/2016.
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Author contributions: Conception and design MDCHS, RMVV; Acquisition of data DALH, EYR, JDCH, LAH; Analysis and Interpretation of data DALH, LTCH, EAO, EYR, JDCH, LAH, MDCHS; Drafting of the manuscript DALH, MDCHS; Critical revision of the manuscript for important intellectual content DALH, RMVV, LTCH, FGA, EAO, EYR, JDCH, LAH, MDCHS; Statistical analysis DALH, FGA, Obtaining funding MDCHS, RMVV, Administrative, technical or material support DALH, LTCH, FGA, Supervision MDCHS, RMVV.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: This study is part of the project with registration number INP-01/2016, which was approved by the Instituto Nacional de Pediatría Ethical and Research Committees.
References
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review Article
- Delivery factors and neonatal thyroid hormone levels: a systematic review
- Original Articles
- Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013–2019
- Analysis of the CAG tract length in the Androgen Receptor gene in Mexican patients with nonsyndromic cryptorchidism
- Pituitary hypoplasia is the best MRI predictor of the severity and type of growth hormone deficiency in children with congenital growth hormone deficiency
- Urinary gonadotropin measurements by enhanced luminometric assays (LIA) for the evaluation of pubertal development
- Challenges in management of transient hyperinsulinism – a retrospective analysis of 36 severely affected children
- Who should return for an oral glucose tolerance test? A proposed clinical pathway based on retrospective analysis of 332 children
- Investigation of the prevalence of cardiovascular risk factors in obese patients diagnosed with metabolic syndrome in childhood and examination of left ventricular function by echocardiography
- Effect of l-carnitine supplementation on children and adolescents with nonalcoholic fatty liver disease (NAFLD): a randomized, triple-blind, placebo-controlled clinical trial
- Management of patients with X-linked hypophosphatemic rickets during Covid-19 pandemic lockdown
- Evaluation of the pathophysiological role of Fetuin A levels in adolescents with polycystic ovary syndrome
- Gonadotropins for testicular descent in cryptorchid congenital hypogonadotropic hypogonadism males beyond infancy
- Clinical characteristics and outcome of hospitalized children and adolescent patients with type 1 diabetes during the COVID-19 pandemic: data from a single center surveillance study in Egypt
- Letter to the Editor
- Revisiting the effect of GnRH analogue treatment on bone mineral density in young adolescents with gender dysphoria
- Case Reports
- Pulmonary and cutaneous mucormycosis in two children with diabetes mellitus type 1
- Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis
- Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report
- The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis
Articles in the same Issue
- Frontmatter
- Review Article
- Delivery factors and neonatal thyroid hormone levels: a systematic review
- Original Articles
- Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013–2019
- Analysis of the CAG tract length in the Androgen Receptor gene in Mexican patients with nonsyndromic cryptorchidism
- Pituitary hypoplasia is the best MRI predictor of the severity and type of growth hormone deficiency in children with congenital growth hormone deficiency
- Urinary gonadotropin measurements by enhanced luminometric assays (LIA) for the evaluation of pubertal development
- Challenges in management of transient hyperinsulinism – a retrospective analysis of 36 severely affected children
- Who should return for an oral glucose tolerance test? A proposed clinical pathway based on retrospective analysis of 332 children
- Investigation of the prevalence of cardiovascular risk factors in obese patients diagnosed with metabolic syndrome in childhood and examination of left ventricular function by echocardiography
- Effect of l-carnitine supplementation on children and adolescents with nonalcoholic fatty liver disease (NAFLD): a randomized, triple-blind, placebo-controlled clinical trial
- Management of patients with X-linked hypophosphatemic rickets during Covid-19 pandemic lockdown
- Evaluation of the pathophysiological role of Fetuin A levels in adolescents with polycystic ovary syndrome
- Gonadotropins for testicular descent in cryptorchid congenital hypogonadotropic hypogonadism males beyond infancy
- Clinical characteristics and outcome of hospitalized children and adolescent patients with type 1 diabetes during the COVID-19 pandemic: data from a single center surveillance study in Egypt
- Letter to the Editor
- Revisiting the effect of GnRH analogue treatment on bone mineral density in young adolescents with gender dysphoria
- Case Reports
- Pulmonary and cutaneous mucormycosis in two children with diabetes mellitus type 1
- Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis
- Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report
- The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis
