Androgen receptor CAG and GGN polymorphisms in boys with isolated hypospadias
-
Alexis Parada-Bustamante
Abstract
Background: The etiology of hypospadias is multifactorial. Abnormal androgenic secretion and/or action during the development of external genitalia may be involved in the etiology of this congenital malformation. This study explored CAG and GGN polymorphisms in the androgen receptor (AR) gene, which may affect its transcriptional activity, in patients with isolated hypospadias.
Methods: The length of the CAG/GGN polymorphisms was determined in 44 boys with non-severe (glandular) or severe (penile or penoscrotal) isolated hypospadias and with a normal hormonal evaluation. In addition, 79 healthy men, as controls, were studied.
Results: Mean CAG repeats were significantly higher in total and severe cases compared to controls (24.4±2.8 and 24.7±3.1 vs. 22.7±3.3, respectively; p<0.05, Student’s t and Bonferroni test). In addition, a frequency of CAG alleles >23 was significantly different in total and severe cases compared to controls (70.5% and 74.1% vs. 39.2%, respectively, p<0.05, χ2 and Bonferroni test). The median number and the distribution of GGN polymorphisms were similar in cases and controls.
Conclusion: Boys with isolated hypospadias have longer CAG alleles in their AR, which may be related with the development of this congenital malformation.
©2012 by Walter de Gruyter Berlin Boston
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- Meetings
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Articles in the same Issue
- Editorial
- 10.1515/jpem-2012-0999
- Reviews
- Sertoli cell markers in the diagnosis of paediatric male hypogonadism
- Congenital hypothyroidism
- Images in Pediatric Endocrinology
- Autoimmune thyroid disease and allergic contact dermatitis: two immune-related pathologies in the same patient
- Metformin use in children with obesity and normal glucose tolerance – effects on cardiovascular markers and intrahepatic fat
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- Prevalence of components of the metabolic syndrome according to birthweight among overweight and obese children and adolescents
- Association of early menarche age and overweight/obesity
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- Newer Doppler echocardiography techniques in assessment of heart function in obese patients
- Effects of a multicomponent wellness intervention on dyslipidemia among overweight adolescents
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- Ultrasonographic description of brain cortex and cingulate sulcus development in Mexican neonates and infants with congenital hypothyroidism
- GH deficiency during the transition period: clinical characteristics before and after GH replacement therapy in two different subgroups of patients
- Therapy strategies in vitamin D deficiency with or without rickets: efficiency of low-dose stoss therapy
- Children with isolated hypospadias have different hormonal profile compared to those with associated anomalies
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- Patient Reports
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- Encephalopathy and sinustachycardia in childhood a possible differential diagnosis
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- Hepatic dysfunction is associated with vitamin D deficiency and poor glycemic control in diabetes mellitus
- Severe hypercalcemia without hypercalciuria in a previously healthy infant
- Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature
- A case of diabetes mellitus associated with Rett Syndrome
- Peripubertal hypoglycemia – an unusual cause
- A pediatric Conn syndrome case
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- Meetings
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- Prelims
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