Androgen receptor expression in hypospadias

Balaji, D.; Reddy, G. Sandeep; Babu, Ramesh; Paramaswamy, Balamourougane; Ramasundaram, Madhu; Agarwal, Prakash; Joseph, Leena Dennis; D’Cruze, Lawrence; Sundaram, Sandhya

doi:10.4103/jiaps.jiaps_166_18

Cited by 12 publications

(9 citation statements)

References 22 publications

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“…If these symptoms do occur, the foreskin can be repeatedly pulled back to dilate the foreskin mouth. By doing so, and with passage of time, most cases of phimosis in children can be cured, and only a small number of children need circumcision or cerclage surgery[ 11 ]. Although circumcision is a minor surgery, patients who receive this surgery tend to hold high expectations for it.…”

Section: Discussionmentioning

confidence: 99%

Design and development of a new type of phimosis dilatation retractor for children

Yue¹,

Chen²,

Deng³

et al. 2021

WJCC

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BACKGROUND Phimosis is one of the most common diseases in children. Early selection of appropriate treatment for phimosis in children is beneficial to the development of their reproductive organs and significantly improves the prognosis of phimosis in children. Although traditional circumcision is the most widely used, it has many disadvantages, including postoperative bleeding and incision infection, pain, obvious scars on the surgical incision, and unsatisfactory appearance. In addition, there is much controversy regarding treatment options and timing at home and abroad. Surgical procedures such as circumcision and cerclage for children with excessively long foreskin will greatly affect the normal life of children after the operation. Young children need general anesthesia, but this anesthesia carries a great risk. AIM To design a new children phimosis dilatation retractor for children phimosis. METHODS The children phimosis was dilated with an elastic dilation frame, in order to expand the foreskin mouth and expose the penis head, and after that, the phimosis was cured. RESULTS A new type of phimosis dilatation retractor was designed, which can gently dilate the prepuce at multiple angles and in multiple directions at the same time. It has obtained the national patent for clinical application. CONCLUSION The phimosis dilatation retractor based on the principle of elastically expanding the prepuce can achieve the purpose of expanding the phimosis. The clinical application shows that the effect of the children phimosis retractor is significant, which is worth promoting.

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Section: Discussionmentioning

confidence: 99%

Design and development of a new type of phimosis dilatation retractor for children

Yue¹,

Chen²,

Deng³

et al. 2021

WJCC

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“…The human AR gene, also known as the dihydrotestosterone receptor, is located on X-chromosome and a member of the nuclear hormone receptor family. Although AR defect may play a causative role during the development of hypospadias, the AR expression (Balaji et al, 2020;Celayir et al, 2019;Lin et al, 2016;Pichler et al, 2013;Silva et al, 2013;Tack et al, 2019) in hypospadias is still debatable. Lin et al (2016) and Silva et al (2013) reported the decreased AR expression in boys with hypospadias compared with controls.…”

Section: Discussionmentioning

confidence: 99%

“…While any defect in the androgen signaling may lead to hypospadias, the AR expression in hypospadias are controversial with the variable results. When compared to the non‐hypospadiac children, AR expression exhibited various levels, including elevated (Balaji et al., 2020; Pichler et al., 2013), similar (Celayir, Moralioglu, Cetiner, Kir, & Celayir, 2019; Tack et al., 2019) or decreased (Lin, Xie, Chen, & Li, 2016; Silva et al., 2013). Various polymorphisms in ESR1 are associated with the risk of hypospadias (Choudhry et al., 2015), and ESR1 expression are also reported to be associated with hypospadias (Qiao et al., 2012; Wang et al., 2007).…”

Section: Introductionmentioning

confidence: 99%

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Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias

Chen

Lin

Wang

et al. 2020

Molec Gen & Gen Med

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Background The aberrant expression of genes involved in androgen metabolism and genetic contribution are unclear in hypospadias. Methods We compared gene expression profiles by RNA sequencing from five non‐hypospadiac foreskins, five mild hypospadiac foreskins, and five severe hypospadiac foreskins. In addition, to identify rare coding variants with large effects on hypospadias risk, we carried out whole exome sequencing in three patients in a hypospadias family. Results The average expression of androgen receptor ( AR ) and CYP19A1 were significantly decreased in severe hypospadias ( p < .01) and mild hypospadias ( p < .05), whereas expression of several other androgen metabolism enzymes, including CYP3A4 , HSD17B14 , HSD3B7 , HSD17B7 , CYP11A1 were exclusively significantly expressed in severe hypospadias ( p < .05). Compound rare damaging mutants of AR gene with HSD3B1 and SLC25A5 genes were identified in the different severe hypospadias. Conclusions In conclusion, our findings demonstrated that dysregulation of AR and CYP19A1 could play a crucial role in the development of hypospadias. Inconsistent AR expression may be caused by the feedback loop of ESR1 signaling or combined genetic effects with other risk genes. This findings complement the possible role of AR triggered mechanism in the development of hypospadias.

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“…Balaji et al 12 analyzed AR expression in 16 hypospadias. This prospective study included 27 children with normal genitalia (who underwent circumcision for phimosis Group 1), and 16 hypospadias patients, with bilateral descended testis, and who had not received any preoperative testosterone (Group 2).…”

Section: Introductionmentioning

confidence: 99%

Androgen receptor study in children with hypospadias in comparison with children with normal genitalia

Nerli,

Rai,

Sanikop

et al. 2023

ACHR

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Androgen receptors (ARs) have been localized to the penile skin, inner prepuce and urethra. Androgens play an important and vital role in the development of male urethra. Androgen signalling through the AR is critical for normal penile development. The objective of our study was to prospectively assess the AR staining score in children with hypospadias in comparison with children with normal genitalia. All children with hypospadias presenting to the Paediatric urological services for repair formed the study group. Children with normal genitalia and undergoing circumcision either for phimosis or for religious indications formed the controls. A piece of the foreskin was collected during surgery and were stained for immunohistochemistry. AR staining was expressed as an m-quick score. A total of 32 children (group I) underwent primary hypospadias repair and 24 children (group II) underwent circumcision during the study period. The mean m-quick score in patients with hypospadias was 219.96 and that of children undergoing circumcision was 90.04 (p <0.050). AR is overexpressed in patients with hypospadias when compared with patients with normal genitalia. Similarly, AR is significantly overexpressed in patients with proximal hypospadias when compared with distal hypospadias.

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Androgen receptor expression in hypospadias

Cited by 12 publications

References 22 publications

Design and development of a new type of phimosis dilatation retractor for children

Design and development of a new type of phimosis dilatation retractor for children

Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias

Androgen receptor study in children with hypospadias in comparison with children with normal genitalia

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