SRY and AZF gene variation in male infertility: a cytogenetic and molecular approach

Özdemir, Öztürk; Gül, Eylem; Kılıçarslan, Hakan; Gökçe, Gökhan; Beyaztaş, Fatma Yücel; Ayan, Semih; Sezgin, Ihan

doi:10.1007/s11255-006-9116-3

Cited by 6 publications

(3 citation statements)

References 17 publications

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“…However, to avoid transmission of genetic anomalies to ICSI-children, germline point mutations should also be comprehensively assessed. Firstly, ICSI patients might harbour mutations predisposing to infertility, including also in SRY gene [ 6 ]. Secondly, as mean age of ICSI-fathers is >40 years, there is an APA-associated risk of DNMs and monogenic disorders (MDs) in the offspring [ 7 – 9 ].…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report

Zhytnik

Peters

Tilk

et al. 2022

BMC Pregnancy Childbirth

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Background Permanent progression of paternal age and development of reproductive medicine lead to increase in number of children conceived with assisted reproductive techniques (ART). Although it is uncertain if ARTs have direct influence on offspring health, advanced paternal age, associated comorbidities and reduced fertility possess significant risks of genetic disorders to the offspring. With a broad implementation of a non-invasive prenatal testing (NIPT), more cases of genetic disorders, including sex discordance are revealed. Among biological causes of sex discordance are disorders of sexual development, majority of which are associated with the SRY gene. Case presentation We report a case of a non-invasive prenatal testing and ultrasound sex discordance in a 46,XY karyotype female fetus with an SRY pathogenic variant, who was conceived through an intracytoplasmic sperm injection (ICSI) due to severe oligozoospermia of the father. Advanced mean age of ICSI patients is associated with risk of de novo mutations and monogenic disorders in the offspring. Additionally, ICSI patients have higher risk to harbour infertility-predisposing mutations, including mutations in the SRY gene. These familial and de novo genetic factors predispose ICSI-conceived children to congenital malformations and might negatively affect reproductive health of ICSI-patients’ offspring. Conclusions Oligozoospermic patients planning assisted reproduction are warranted to undergo genetic counselling and testing for possible inherited and mosaic mutations, and risk factors for de novo mutations.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report

Zhytnik

Peters

Tilk

et al. 2022

BMC Pregnancy Childbirth

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“…The gene responsible for human spermatogenesis is the AZF locus. Azoospermia and/or oligozoospermia occur due to the deletion of this gene (Ozdemir et al, 2007). In aphallia, SRY and AZF did not experience deletions, so they did not interfere with spermatogenesis.…”

Section: Discussionmentioning

confidence: 99%

Adult Patients with Aphallia: Were they Fertile?

Sisca¹,

Pakpahan²,

Rezano³

et al. 2022

OnLine Journal of Biological Sciences

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Adult male genotype and phenotype with aphallia are men born without a penis. The effectiveness of male sex assignment or female sex reassignment as a treatment for aphallia has been debated. The study's goal was to address the gonadal existence and supporting investigation related to the reproductive health care of reported cases of aphallia patients such as karyotyping, physical examination, semen analysis, hormone reproduction level, sperm retrieval, radiological investigation type of intervention. In this narrative review, data were obtained from Pubmed and Google Scholar that contains keywords "absence penis", "penile agenesis", "phalloplasty" "fertility function". We excluded pediatric patients with aphallia or adult patients with aphallia that reassignments to be female. Only five of the case reports were adult patients with aphallia that reported their fertility function and remains the gonadal existence. All samples have fertility potential disregard their aphallia based on primary testicular function, semen analysis, hormonal profile radiological investigation. Radiology supporting to the investigation of fertility function has aimed to detect genitourinary anomaly related to the site of urinary meatus associated with death rate. Four patients showed post sphincteric meatus urinary and one patient was presphincteric meatus urinary. Gonadal existence is addressed in the case report. This report suggested that sex assignment on aphallia patients should be considered based on the gonadal existence because even though they do not have a penis, they can have children through assisted reproductive technology provided that their phenotype and genotype are matched.

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“…Some point mutations in the testis-specific HSFY gene family, such as microdeletions, may be a cause of unexplained cases of idiopathic male infertility [ 1 ]. Furthermore, Ozdemir et al evaluated the genetic variants of SRY and AZF in male infertility [ 8 ]. Moreover, three SNPs (rs4920566, rs11763979, and rs3741843) on taste receptor genes (TASR) are associated with male infertility [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic Association of the Functional WDR4 Gene in Male Fertility

Wang

Mugiyanto

Peng

et al. 2021

JPM

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Infertility is one of the important problems in the modern world. Male infertility is characterized by several clinical manifestations, including low sperm production (oligozoospermia), reduced sperm motility (asthenozoospermia), and abnormal sperm morphology (teratozoospermia). WDR4, known as Wuho, controls fertility in Drosophila. However, it is unclear whether WDR4 is associated with clinical manifestations of male fertility in human. Here, we attempted to determine the physiological functions of WDR4 gene. Two cohorts were applied to address this question. The first cohort was the general population from Taiwan Biobank. Genomic profiles from 68,948 individuals and 87 common physiological traits were applied for phenome-wide association studies (PheWAS). The second cohort comprised patients with male infertility from Wan Fang Hospital, Taipei Medical University. In total, 81 male participants were recruited for the genetic association study. Clinical records including gender, age, total testosterone, follicle-stimulating hormone (FSH), luteinizing hormone (LH), total sperm number, sperm motility, and sperm morphology were collected. In the first cohort, results from PheWAS exhibited no associations between WDR4 genetic variants and 87 common physiological traits. In the second cohort, a total of four tagging single-nucleotide polymorphisms (tSNPs) from WDR4 gene (rs2298666, rs465663, rs2248490, and rs3746939) were selected for genotyping. We found that SNP rs465663 solely associated with asthenozoospermia. Functional annotations through the GTEx portal revealed the correlation between TT or TC genotype and low expression of WDR4. Furthermore, we used mouse embryonic fibroblasts cells from mwdr4 heterozygous (+/‒) mice for functional validation by western blotting. Indeed, low expression of WDR4 contributed to ROS-induced DNA fragmentation. In conclusion, our results suggest a critical role of WDR4 gene variant as well as protein expression in asthenozoospermia.

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SRY and AZF gene variation in male infertility: a cytogenetic and molecular approach

Cited by 6 publications

References 17 publications

Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report

Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report

Adult Patients with Aphallia: Were they Fertile?

Genetic Association of the Functional WDR4 Gene in Male Fertility

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