Azoospermia Secondary to a Novel X-Autosomal Reciprocal Translocation: 46,Y, t(X:16)(p22.1:p11.2).

We present a novel case of azoospermia with a karyotype of 46,Y,t(X:16)(p22.1:p11.2). A 26-year-old, healthy, active duty male Solider presented with his dependent female partner for primary infertility. Female anatomical and endocrine evaluations were normal. Initial male evaluation revealed azoospermia on multiple semen analyses. Further evaluation with a detailed physical exam and laboratory tests were normal except for an abnormal karyotype with a reciprocal translocation at chromosomes X and 16. An open testicular biopsy demonstrated 75% late spermatid maturation arrest confirming reproductive potential although significantly reduced. Men who present with azoospermia should undergo a full endocrine and genetic evaluation with a thorough physical evaluation by an urologist. They can have limited but successful reproductive outcomes if spermatozoa can be isolated during testicular biopsy. Given the high risk of producing genetically unbalanced embryos, genetic counseling and preimplantation genetic testing is essential before pursuing assisted reproductive technology. This case is the first X-autosomal balanced reciprocal translocations involving chromosome 16 and highlights the importance of the X chromosome during spermatogenesis. PMID: 32236419 [PubMed - as supplied by publisher]
Source: Military Medicine - Category: International Medicine & Public Health Tags: Mil Med Source Type: research

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Rationale: For the carriers of chromosome reciprocal translocation, the reason why some are fertile and others are infertile remains unclear. Here, we describe 2 patients who are carriers of chromosome 1q21 translocation with azoospermia. Patient concerns: A 29-year-old male and a 33-year-old male presented at the clinic with a diagnosis of infertility. Diagnosis: Both patients with azoospermia were diagnosed with Routine semen analysis, cytogenetic diagnosis and detection of serum reproductive hormones. The karyotype results of 2 patients were 46,XY,t(1;17)(q21;q23) and 46,XY,t(1;10)(q21;p12), respectively. Inter...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Conclusion The periconceptional environment and lifestyle factors modify sperm epigenome. This alteration might be maintained in the zygote and throughout development, thereby leading to the inheritance of newly acquired pathologies. The role of sperm miRNA, not only as innovative markers of fertility issues but also as vectors involved in the inheritance of paternal diseases, appears to be crucial. Overweight and obesity seem to alter sperm miRNA profile, thereby leading to transmission of different miRNA profiles in zygote, with consequences on embryo development. In long term, metabolic disorders have been described in...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Rationale: Y;autosome translocations are associated with male infertility and azoospermia. Some carriers with a Y:22 translocation can produce offspring and transmit the translocation through generations without phenotypic repercussion. Hence, the clinical features of carriers with certain Y chromosome abnormalities remain uncertain. Patient concerns: An apparently healthy 33-year-old man, 175 cm tall and weighing 60 kg had a 6-month history of primary infertility. Diagnoses: The patient was diagnosed with oligoasthenozoospermia. A series of examinations have been performed to evaluate possible genetic causes o...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
This study reports of 28 male carriers from our clinic with balanced reciprocal translocations of chromosome 13, 14, or 15, and a literature review of 201 cases. The 28 male carriers from our clinic were diagnosed by cytogenetic analyses: 19 subjects suffered from pregestational infertility and 9 from gestational infertility. The most common translocations were t(7;13), t(10;14), and t(3;15), observed respectively in 13 (46%), 8 (29%), and 8 (29%) of our subjects. The literature cases (n = 201) involved chromosome 13 (n = 83, 41%), chromosome 14 (n = 56, 28%) or 15 (n = 62, 31%) in which 75 breakpoints were...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
CONCLUSIONS Chromosome translocations involving chromosome 6 influence fertility status and lead to increased risk of miscarriage. Cytogenetic screening before opting for assisted reproductive technology and the breakpoints of chromosome 6 translocation should be considered for infertile male carriers. PMID: 29911662 [PubMed - in process]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
We report 11 cases translocation carriers involving chromosome 10, and review 99 carriers of chromosome 10 translocation from reported literature. Diagnoses: Eleven cases of chromosomal translocation were diagnosed by cytogenetic analysis. Three of these men had azoospermia or oligozoospermia, while eight had normal semen. Of these latter cases, their partners were able to conceive, but had a tendency to miscarry or have a stillbirth. Interventions: Chromosome breakpoints should be considered in genetic counseling. Preimplantation genetic diagnosis should be performed to decrease the high risk of miscarriage and to m...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Authors: Wang D, Chen R, Kong S, Pan QY, Zheng YH, Qiu WJ, Fan Y, Sun XF Abstract Y-autosomal translocation has been previously reported in association with male infertility; however, the mechanisms of Y-autosomal translocation and non‑obstructive azoospermia or severe oligospermia remain unclear. G‑banding and fluorescence in situ hybridization (FISH) were performed to analyze the translocation of chromosomes, and a single nucleotide polymorphism (SNP) genotyping assay was used to test mutations. The present study describes three new cases with a de novo balanced translocation t(Y;13), t(Y;9) and t(Y...
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research
Abstract Balanced translocations are known to be associated with infertility, spontaneous abortions and birth defects in mammals. Spermatocyte spreading and immunostaining were applied to detect meiotic prophase I progression, homologous chromosome pairing, synapsis and recombination in an azoospermic reciprocal translocation 46,X,t(Y;1)(p11.3;p31) carrier. Histological examination of testicular sections revealed a severely reduced number of germ cells with no spermatids or sperm in the carrier. A significant reduction in XY recombination was observed in the patient. The number of MLH1 foci on autosomes that ...
Source: International Journal of Molecular Medicine - Category: Molecular Biology Authors: Tags: Int J Mol Med Source Type: research
Abstract Cytogenetic analysis remains a powerful and cost-effective technology, and has wide applicability in genetic counseling for infertile males. Chromosomal rearrangements are thought to be one of the major genetic factors that influence male infertility. Some carriers with balanced reciprocal translocation have been identified as having oligozoospermia or azoospermia, and there is an association between balanced translocation and recurrent abortion. Researchers have reported the involvement of chromosome 4 translocations in male factor infertility and recurrent miscarriages. A translocation breakpoint might ...
Source: Genetics and Molecular Research - Category: Genetics & Stem Cells Authors: Tags: Genet Mol Res Source Type: research
Abstract Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have been shown to have beneficial effects on infertile patients with chromosomal abnormalities. The present study explored reproductive outcome of male carriers of chromosomal abnormalities, who accepted genetic counseling and psychological support. Cytogenetic analysis was performed using cultured peripheral blood lymphocytes and G-banding. The detection rate of chromosomal abnormalities was 10.3% in pre-pregnancy co...
Source: Genetics and Molecular Research - Category: Genetics & Stem Cells Authors: Tags: Genet Mol Res Source Type: research
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