A familial analysis of two brothers with azoospermia caused by maternal 46,Y, t(X; 1) (q28; q21) chromosomal abnormality

Li, Youzhu; Sha, Yanwei; Wei, Zijie; Liu, Wensheng; Mei, Libin; Hong, Yun Yu; Jiang, Lizhi; Ge, Yunsheng; Xie, Yuanzhi

doi:10.1111/and.13867

Cited by 5 publications

(4 citation statements)

References 32 publications

(28 reference statements)

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“…Normal chromosomal karyotypes (46; XY) were identified in these 165 subjects, and no microdeletions were detected in the human Y chromosome, according to general protocols. 35 , 36 In addition, 200 healthy men with normal semen parameters who were fathers (one to four children) were recruited as control individuals.…”

Section: Methodsmentioning

confidence: 99%

Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis

Sha,

Liu,

et al. 2023

eBioMedicine

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Section: Methodsmentioning

confidence: 99%

Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis

Sha,

Liu,

et al. 2023

eBioMedicine

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“…Even if the copy number of cellular chromosome is balanced, almost all hemizygous males with X-autosomal translocations are infertile [27].…”

Section: Discussionmentioning

confidence: 99%

Characteristics and mechanisms of X chromosome translocation

Huang,

Zhou,

et al. 2023

Preprint

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Background Individuals with X chromosomal translocation and variable phenotype, high risk of living birth defect constitute an interesting project to study. Those are related to differential breakpoints and types of chromosomal abnormality. To investigate the effect of X translocation and clinical phenotype, a retrospective analysis of the clinical data of patients with X translocation who verified by chromosome karyotype was conducted. The efects of follicle-stimulating hormone (FSH) levels, luteinizing hormone (LH) levels, estradiol (E2), progesterone (PROG), prolactin (PRL), testosterone (T) levels, Anti-Müllerian hormone (AMH) and an additional semen analysis for male were assessed in this group of patients. Results A total of 10 individuals underwent detail clinical data. Infantile uterus and both small ovaries were visible with abdominal ultrasound in two cases (FSH:34.80IU/L, LH:17.06mIU/mL, E2:15.37pg/ml; FISH:6.60IU/L, LH:1.69mIU/mL, E2:23.70pg/ml). No ovaries were visible in one case (FSH:114IU/L, LH:30.90mIU/mL, E2:<5.00pg/ml). Corresponding to the chromosome karyotype results, the breakpoints were located on the long arm of X chromosome(Xq13, 21, 25). Normal endocrine hormonal levels and abilities of fertility were observed in other three cases with breakpoints located on short arm of X chromosome, which appeared unremarkable clinical manifestations, but had a history of abnormal pregnancy results of partial monosomies and trisomies. In addtion, normal phenotype and complex reciprocal translocation were observed in one case with early spontaneous abortion twice. In three cases of male, multiple semen analysis confirmed no sperm. Y chromosome microdeletion analysis and hormonal analysis were performed to be normal. The balanced reciprocal translocation were found between X chromosome and autosome (1, 3 and 8), and breakpoints mainly located on Xq26. Conclusions Our study provides insights into which individuals with X translocation most likely to have ovary insufficiency, infertility and high risk to birth defects. Rely on a full history and physical exam with laboratory evaluation that helps to understand the clinical heterogeneity involved and provide accurate, efficient and personalized genetic counseling.

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“…[5] Most of male carriers involved in sex chromosome translocation show azoospermia. [20][21][22][23] About 60% of male carriers with autosomal translocation have at least one abnormal parameter in their semen analysis. [24,25] The difference of these semen parameters depends on the specific chromosome and breakpoints involved in translocation.…”

Section: Discussionmentioning

confidence: 99%

Association between chromosome 22q11.2 translocation and male oligozoospermia

et al. 2022

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Chromosomal aberrations in peripheral blood are a major cause of reproductive disorders for the infertile couples. Reciprocal translocation is closely related to male infertility. The breakpoint of translocation may disrupt or dysregulate important genes related to spermatogenesis. The relationship between some breakpoints of chromosome and male infertility has been paid attention. Chromosome 22q11.2 translocation has not been reported with male infertility. The purpose of this study is to evaluate the relationship between chromosome 22q11.2 translocation and male infertility. All patients were collected from the second hospital of Jilin University. Semen parameters were detected using the computer-aided semen analysis system. Cytogenetic analysis was performed using standard operating procedure. Related genes on chromosomal breakpoints were searched using online mendelian inheritance in man (OMIM). The association between this breakpoint and spermatogenesis is also discussed. We report 6 cases of translocation in chromosome 22. Of 7 breakpoints involved in these translocations, the common feature is that they all included chromosome 22q11.2 translocation and presented with oligozoospermia. The analysis of breakpoint related genes showed testis-specific serine/threonine kinase 2 ( TSSK2 ) gene is associated with human spermatogenesis impairment. Overall, these results suggest that the breakpoint involved in translocation deserves attention from physicians in genetic counseling. The breakpoint rearrangement has the possibility of disrupting spermatogenesis. The relationship between 22q11.2 breakpoint and male infertility deserves further study.

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A familial analysis of two brothers with azoospermia caused by maternal 46,Y, t(X; 1) (q28; q21) chromosomal abnormality

Cited by 5 publications

References 32 publications

Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis

Deficiency in AK9 causes asthenozoospermia and male infertility by destabilising sperm nucleotide homeostasis

Characteristics and mechanisms of X chromosome translocation

Association between chromosome 22q11.2 translocation and male oligozoospermia

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