Molecular Pathology of Cryptorchidism-Induced Infertility

Docampo, María José; Hadžiselimović, Faruk

doi:10.1159/000442059

Cited by 28 publications

(23 citation statements)

References 66 publications

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“…When boys with cryptorchidism were pre-treated with hCG, their response to a stimulation test was the same as that observed in a control population [22]. Thus, the cause of the lower testosterone response appeared to be at the pituitary or hypothalamic level; consequently, it may result from insufficient Leydig cell stimulation [23]. The first prospective study had a follow-up period of over 20 years.…”

Section: Discussionmentioning

confidence: 70%

Prospective study of histological and endocrine parameters of gonadal function in boys with cryptorchidism

Verkauskas

Malcius

Eidukaitė

et al. 2016

Journal of Pediatric Urology

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Section: Discussionmentioning

confidence: 70%

Prospective study of histological and endocrine parameters of gonadal function in boys with cryptorchidism

Verkauskas

Malcius

Eidukaitė

et al. 2016

Journal of Pediatric Urology

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“…An interesting case of a homozygous genotype for a missense substitution in the MAMLD1 gene was found in a hypospadic horse, but its association with the observed abnormality was not confirmed [De Lorenzi et al, 2010]. Polymorphism studies of candidate genes for human hypospadias or cryptorchidism have been extensively done [Docampo and Hadziselimovic, 2015;Khan et al, 2018]. These genes included MAMLD1 , SRD5A2, and AR .…”

Section: Resultsmentioning

confidence: 99%

“…Among them, SRD5A2 (steroid 5 alpha-reductase 2), MAMLD1 (mastermind like domain containing 1), and AR (androgen receptor) have been studied in human cases of hypospadias [Bouty et al, 2015], while AR polymorphisms also showed an association with cryptorchidism [Docampo and Hadziselimovic, 2015]. Moreover, mutations of AR and SRD5A2 can be also responsible for penis underdevelopment [Cimador et al, 2015].…”

mentioning

confidence: 99%

Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism

Krzemińska¹,

D’Anza²,

Ciotola³

et al. 2019

Sex Dev

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Knowledge of the molecular background of disorders of sex development (DSD) in dogs with normal sets of XY chromosomes (XY DSD) is very scarce. However, extensive studies have been carried out in humans, showing that polymorphisms and mutations of numerous genes, including SRY, MAMLD1, SRD5A2, and AR, are associated with or responsible for XY DSD. In this study, we analyzed the entire coding sequence of these genes in 7 dogs (78,XY) with ambiguous external genitalia (hypospadias, cryptorchidism, bifid scrotum, or rudimentary penis). The most common disorder was hypospadias (6 cases), followed by cryptorchidism (4 cases). The co-occurrence of both abnormalities was observed in 3 dogs. Polymorphisms were found in MAMLD1 (3 SNPs), SRD5A2 (5 SNPs), and AR (2 STRs and 1 SNP), while SRY was monomorphic. However, the distribution of the polymorphic variants in the DSD dogs and 11 control XY dogs did not differ significantly. Our study suggests that an association between the polymorphisms of the studied candidate genes and hypospadias or cryptorchidism is unlikely in dogs. We thus support the recent suggestion that hypospadias is not rare in this species, and moreover, we show that co-occurrence of hypospadias and cryptorchidism can be quite frequent.

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“…Furthermore, it is important to note that we did not investigate the function of Ptbp2 in invitro germ cell and cryptorchidism patients, and we plan to do this in future research. Cryptorchidism-induced infertility is considered to be a disease with a complex etiology in humans [ 34 – 36 ], and further investigation in this field is needed.…”

Section: Discussionmentioning

confidence: 99%

Association between RNA-binding protein Ptbp2 and germ cell injury in an experimentally-induced unilateral cryptorchidism murine model

Dou

Gao

et al. 2017

PLoS ONE

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RNA binding protein polypyrimidine tract binding protein 2 (Ptbp2) as a key alternative splicing regulator for male germ cell development is well established. However, its expression levels and role in cryptorchidism testes tissues has not been explored. Additionally, the molecular mechanism of heat stress impacts the correct proliferation and differentiation of germ cells is unclear. To investigate whether changes in Ptbp2 expression are correlated with heat stress-induced germ cell injury in testicular tissue, we used a murine model of intraperitoneal cryptorchidism with surgical operation. Here we present compelling evidence that germ cells are severely damaged in mice with unilateral cryptorchidism, with non-obstructive azoospermia. And the Ptbp2 and Pgk2 mRNA levels were significantly decreased in parallel, leading us to conclude that the negative correlation between Ptbp2 levels and germ cell injury in unilateral cryptorchidism murine model. We hypothesize that Ptbp2 is susceptible to heat stress and its disruption has resulted in stability decline of germ cell transcripts Pgk2 mRNA, which consequently lead to germ cell injury in cryptorchidism testes. Thus, we confirm that Ptbp2 is an essential factor in heat stress-induced sperm cell injury and non-obstructive azoospermia.

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Molecular Pathology of Cryptorchidism-Induced Infertility

Cited by 28 publications

References 66 publications

Prospective study of histological and endocrine parameters of gonadal function in boys with cryptorchidism

Prospective study of histological and endocrine parameters of gonadal function in boys with cryptorchidism

Polymorphisms of <b><i>MAMLD1, SRD5A2,</i></b> and <b><i>AR</i></b> Candidate Genes in Seven Dogs (78,XY; <b><i>SRY</i></b>-Positive) Affected by Hypospadias or Cryptorchidism

Association between RNA-binding protein Ptbp2 and germ cell injury in an experimentally-induced unilateral cryptorchidism murine model

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