scholarly journals A Novel Balanced Chromosomal Translocation in an Azoospermic Male: A Case Report

2021 ◽  
Author(s):  
Abhik Chakraborty ◽  
Indira Palo ◽  
Souvick Roy ◽  
Shu Wen Koh ◽  
Manoor Prakash Hande ◽  
...  
Keyword(s):  
Semen Analysis ◽  
Male Partner ◽  
Chromosomal Translocation ◽  
Banding Technique ◽  
Obstructive Azoospermia ◽  
Genetic Associations ◽  
Balanced Translocation ◽  
Protein Protein Interaction ◽  
The Status ◽  
Balanced Translocations

Background: Balanced translocation and azoospermia as two main reasons for recurrent pregnancy loss are known to be the leading causes of infertility across the world. Balanced translocations in azoospermic males are very rare and extensive studies need to be performed to elucidate the translocation status of the affected individuals. Case Presentaion: The cytogenetic characterization of a 28 year old male and his female partner is reported in this study. The male partner was diagnosed with non-obstructive azoospermia (NOA) and the couple was unable to conceive. Cytogenetic analysis by karyotyping through Giemsa-trypsin-giemsa banding technique (GTG) showed a novel balanced translocation, 46,XY,t(19;22)(19q13.4;22q11.2), 13ps+ in the male and the female karyotype was found to be 46,XX. Multicolor fluorescence in situ hybridization (mFISH) analysis on paternal chromosomal preparations con-firmed both the region and origin of balanced translocation. The status of Y chromo-some microdeletion (YMD) was analyzed and no notable microdeletion was ob-served. Furthermore, protein-protein interaction (PPI) network analysis was per-formed for breakpoint regions to explore the possible functional genetic associations. Conclusion: The azoospermic condition of the male patient along with novel bal-anced chromosomal translocation was responsible for infertility irrespective of its YMD status. Therefore, cytogenetic screening of azoospermic patients should be performed in addition to routine semen analysis to rule out or to confirm presence of any numerical or structural anomaly in the patient.

scholarly journals A familial case report of a 13;22 chromosomal translocation with recurrent intracytoplasmic sperm injection failure

2018 ◽  
Vol 21 (2) ◽  
pp. 73-77 ◽  
Author(s):  
S Verma ◽  
R Shah ◽  
A Bhat ◽  
GR Bhat ◽  
R Dada ◽  
...  
Keyword(s):  
Intracytoplasmic Sperm Injection ◽  
Chromosomal Abnormalities ◽  
Semen Analysis ◽  
Genetic Diagnosis ◽  
Chromosomal Translocation ◽  
First Trimester ◽  
Peripheral Blood Lymphocytes ◽  
Banding Technique ◽  
Balanced Translocation ◽  
Assisted Reproductive Technique

Abstract The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13;22. The clinical evaluation had shown the female to be normal and the male to be oligoasthenoteratozoospermic despite repeated semen analysis. The couple was referred to our laboratory after three consecutive intracytoplasmic sperm injection (ICSI) failures at a local assisted reproductive technique (ART) center. Peripheral blood lymphocytes, obtained for karyotyping, were studied by a standard G-banding technique. Chromosomal analysis of the members of the pedigree, including the probands, showed the presence of the same translocation, t(13;22)(q21.2;q13.3), carried by three generations of the family. The sister and the mother of the proband had multiple spontaneous abortions in the first trimester. The spouses, when examined cytogenetically, were found to be normal. We propose the involvement of a balanced t(13;22)(q21.2;q13.3) chromosomal translocation in the pathogenesis of recurrent ART or spontaneous reproductive failures. Hence, it is suggested that all cases with structural chromosomal abnormalities be counseled prior to opting for ART and undergoing pre-implantation genetic diagnosis (PGD). This would prevent recurrent financial, physical and emotional stress in couples seeking ART.

scholarly journals Does female with chromosome translocation have a normal response to controlled ovarian hyperstimulation?

2020 ◽  
Vol 8 (4) ◽  
pp. 109-115
Author(s):  
Salma Kaddouri-Kaddouri ◽  
◽  
Cintia Concepción-Lorenzo ◽  
Rubí N Rodríguez-Díaz ◽  
Stephany Hess-Medler ◽  
...  
Keyword(s):  
Ovarian Stimulation ◽  
Male Partner ◽  
Chromosomal Translocation ◽  
Normal Karyotype ◽  
Ovarian Response ◽  
Controlled Ovarian Hyperstimulation ◽  
Chromosome Translocation ◽  
Controlled Ovarian Stimulation ◽  
Control Group ◽  
Balanced Translocation

Patients with chromosomal translocation have been reported to have high risk of reproductive failure, lower ovarian response, recurrent pregnancy loss and implantation failure. The literature is not conclusive, and our objective is to study if female balanced translocation (BT) does affect the controlled ovarian stimulation (COS). We carried out a retrospective analysis of 3249 karyotypes between 2008 and 2016, including 2276 females and 973 males. 12 women (0.5%) with BT were compared with 93 control normal karyotype group (CN) in both female and male partner. An equivalent control group (EQc) of 12 patients was additionally selected to be accurate with the BT statistical contrast. Cycle, oocyte and embryo outcomes were analysed. We concluded that female BT carriers have no diminished response to COS than infertile females with normal karyotype. This is an important information for counselling couples previous to COS and preimplantational genetic testing (PGT). Keywords: Chromosomal translocation, reciprocal, Robertsonian, controlled ovarian stimulation.

Detection Y Chromosome Microdeletions Among Iraq Population in Infertile Patients with Azoospermia and Severe Oligospermia

2019 ◽  
Vol 9 (02) ◽  
Author(s):  
Samah A Hammood ◽  
Alaauldeen S M AL-Sallami ◽  
Saleh M Al-Khafaji
Keyword(s):  
Y Chromosome ◽  
Karyotype Analysis ◽  
Semen Analysis ◽  
Obstructive Azoospermia ◽  
Severe Oligozoospermia ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Detailed Evaluation ◽  
Health Organization ◽  
Infertile Patients

Objective: To detection of microdeletions of Y chromosome and study the frequency of microdeletions in infertile men with non-obstructive azoospermia or severe oligozoospermia(Middle Euphrates center)in Iraq population. Material and methods: 153 males were included in the study, the casesweredivided into groups according to the infertility etiology and semen analysis according to Word health organization, the frequencies and the characteristicsof Y chromosome microdeletions were investigated in groups. Multiplex PCR was applied to detect the microdeletions. Results:Y chromosome microdeletion was detected in 42 (40.7%) of 153 cases ,Microdeletions in azoospermia showed more frequently detected 28 (52.8%), followed by severe oligospermia 14 (28 %),Microdeletions in the AZFc region were the most common 12 (22.64%), followed by AZFb 11(20.75%) and AZFa 5(9.43%) in azoospermia compared to severe oligospermisAZFc 6 (12%) AZFb 4 (8 %) and AZFa 4 (8%). Conclusion: Y chromosome microdeletions were detected quite frequently in certain infertility subgroups. Therefore, detailed evaluation of an infertile man by physical examination, semen analysis, hormonal evaluationsand when required, karyotype analysis may predict the patients for whom Y chromosome microdeletionanalysis is necessary and also prevent cost increases. Recommendation: This study emphasizes that analysis of microdeletions should be carried out for all patients with idiopathic azoospermia and severe oligospermia who are candidates for intracytoplasmic sperm injection

scholarly journals Negative Affect, Alcohol Consumption, and Female-to-Male Intimate Partner Violence: A Daily Diary Investigation

Partner Abuse ◽  
2013 ◽  
Vol 4 (3) ◽  
pp. 332-355 ◽  
Author(s):  
Cory A. Crane ◽  
Christopher I. Eckhardt
Keyword(s):  
Intimate Partner Violence ◽  
Alcohol Consumption ◽  
Alcohol Use ◽  
Negative Affect ◽  
Partner Violence ◽  
Male Partner ◽  
Intimate Partner ◽  
College Age ◽  
The Status ◽  
Daily Risk

Although research suggests that both negative affect and alcohol use are related to the risk of intimate partner violence (IPV) in male samples, less is known about the status of these risk factors in female samples. Forty-three college-age females who reported a recent history of IPV perpetration submitted 6 weeks of Online daily reports pertaining to their levels of negative affect, alcohol consumption habits, and the occurrence of both male-to-female partner violence (MFPV) and female-to-male partner violence (FMPV). Results indicated that negative affect significantly predicted increases in the daily risk of FMPV. MFPV also significantly predicted FMPV risk. Alcohol consumption failed to predict FMPV perpetration on both levels of analysis. Results are discussed in terms of prevailing models of alcohol use, negative affect, and IPV.

scholarly journals The possible significance of trisomy 8 in acute myeloid leukemia

2017 ◽  
Vol 5 (6) ◽  
pp. 2652 ◽  
Author(s):  
Salil N. Vaniawala ◽  
Monika V. Patel ◽  
Pratik D. Chavda ◽  
Shivangi H. Zaveri ◽  
Pankaj K. Gadhia
Keyword(s):  
Acute Myeloid Leukemia ◽  
Chromosomal Aberrations ◽  
Myeloid Leukemia ◽  
Chromosomal Abnormalities ◽  
Prognostic Significance ◽  
Chromosomal Translocation ◽  
Banding Technique ◽  
Trisomy 8 ◽  
Increased Risk ◽  
Acute Myeloid

Background: Acute myeloid leukemia (AML) is a heterogeneous disorder that results from a block in the differentiation of haematopoietic progenitor cells along with uncontrolled proliferation. Trisomy 8 is the most common recurring numerical chromosomal aberrations in acute myeloid leukemia (AML). It occurs either as a sole anomaly or together with other additional chromosomal aberrations. The prognostic significance of trisomy 8 in presence of other additional chromosomal abnormality depends on clonal cytogenetic changes. The patients with trisomy 8 had shorter survival with significantly increased risk with other chromosomal abnormality.Methods: Total 139 patients were screened between January 2016 to November 2016 who were suspected of AML cases. Bone marrow cultures were set up using conventional cytogenetic methods. Chromosomal preparation was made and subjected to GTG banding technique. Banded metaphases were analysed and karyotyped for further analysis.Results: Cytogenetic evaluation of karyotyped of 139 suspected AML patients showed 52 with t(8;21)(q22;q22), 36 with t(15;17)(q22;q12), and 11 with inv(16)(p13;q22). The rest 40 cases found with additional chromosomal abnormalities, of which 16 were sole trisomy 8 and 24 cases were found with other chromosomal abnormalities In addition, only one person found with t(8;21) and trisomy 8, while  three person having t(15;17) with trisomy 8.Conclusions: AML is considered to be one of the most important cytogenetic prognostic determinants. Recurrent chromosomal translocation with trisomy 8 varying 1.9% for t(8;21) and 8.3% for t(15;17). In the present study trisomy 8 in AML with known favourable anomalies is very small. Therefore, it cannot be taken as a prognostic marker.

A case of deletion 8q22.2q22.3 in a child with de novo balanced translocation t(1;6)

2021 ◽  
pp. 49-56
Author(s):  
М.Е. Миньженкова ◽  
Ж.Г. Маркова ◽  
И.В. Анисимова ◽  
И.В. Канивец ◽  
Н.В. Шилова
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Current Trend ◽  
Chromosomal Microarray ◽  
Congenital Defects ◽  
Chromosomal Microarray Analysis ◽  
Balanced Translocation ◽  
Genomic Imbalance ◽  
Abnormal Phenotype ◽  
Balanced Translocations

Выяснение этиопатогенеза аномального фенотипа у пациентов со сбалансированными транслокациями является актуальным аспектом в современной клинической цитогенетике. Формирование аномалий развития может быть ассоциировано с наличием скрытого геномного дисбаланса как в точках разрывов, так и на хромосомах, не задействованных в перестройке. Целью данного исследования явилась этиологическая диагностика геномного дисбаланса у пациента со сбалансированной транслокацией и аномалиями развития. Для детекции геномного дисбаланса у пациента со сбалансированной транслокацией использовали хромосомный микроматричный анализ (ХМА) и FISH-исследование. У пациента со сбалансированной транслокацией при ХМА была выявлена делеция на хромосоме 8, не задействованной в транслокации. Таким образом, в статье представлен новый случай делеции 8q22.2q22.3 у пациента со сбалансированной транслокацией t(1;6) и аномалиями развития вследствие делеции. Identification of the etiopathogenesis of the abnormal phenotype in patients with balanced translocations is current trend in cytogenetic laboratories. The formation of developmental anomalies can be associated with the presence of a cryptic genomic imbalance both at breakpoints and on chromosomes not involved in rearrangements.The aim of this study is diagnostics of genomic imbalance in a patient with balanced translocation and abnormal phenotype. The case was characterized by GTG-banding, chromosomal microarray analysis and FISH diagnosis. We present a new case of deletion 8q22.2-q22.3 in child with balanced translocation t(1;6) and developmental delay/congenital defects due to deletion.

scholarly journals A survey on the status of semen analysis in 118 laboratories in China

2009 ◽  
Vol 12 (1) ◽  
pp. 104-110 ◽  
Author(s):  
Jin-Chun Lu ◽  
Hong-Ye Zhang ◽  
Yu-An Hu ◽  
Yu-Feng Huang ◽  
Nian-Qing Lü
Keyword(s):  
Semen Analysis ◽  
The Status

scholarly journals Should azoospermic patients with varicocele disease undergo surgery to recover fertility?

2017 ◽  
Vol 63 (4) ◽  
pp. 332-335 ◽  
Author(s):  
Leonardo de Souza Alves ◽  
Francisco Batista de Oliveira
Keyword(s):  
Sperm Count ◽  
Semen Analysis ◽  
Production Method ◽  
Obstructive Azoospermia ◽  
Sperm Production ◽  
Genetic Changes ◽  
Donor Sperm ◽  
Vitro Fertilization ◽  
Positive Rate

Summary Introduction: Varicocele disease is well-known cause of infertility in men. The presence of spermatic varices veins create a hostile environment to spermatogenesis. It results in reduced quality of the sperm production and in some cases can determine a total absence of sperm. The varicocelectomy procedure in patients with non-obstructive azoospermia (NOA) can raise the rates of sperm in the semen analysis. A positive rate for sperm, even if very low, may be sufficient to enable the capture of sperm intended for in-vitro fertilization without the use of donor sperm. Objetive: To evaluate the raise of sperm in NOA patients with varicocele disease who were submitted to a bilateral procedure to recovery sperm production. Method: We analized the sperm results of 25 NOA patients who undergone to a bilateral varicocelectomy procedure. Results: From a total of 25 patients, three (12%) recovered sperm count four months after procedure. One year after the procedure, five (20%) patients recovered sperm production. Conclusion: Patients with varicocele disease and azoospermia, without genetic changes or obstruction of the spermatic tract, should undergo surgical procedure to recover sperm.

scholarly journals Study on Pregnancy Outcomes in Intrauterine Insemination Cycles with Motile Spermatozoa Insemination

2020 ◽  
Vol 19 (2) ◽  
pp. 41-45
Author(s):  
Mafruha Khanam ◽  
Rokeya Begum ◽  
Aditi Banerjee ◽  
Jesmin Jerin ◽  
Mohamed Mazih Fazyl ◽  
...  
Keyword(s):  
Success Rate ◽  
Endometrial Thickness ◽  
Intrauterine Insemination ◽  
Semen Analysis ◽  
Male Partner ◽  
Male Factor ◽  
Minimum Thickness ◽  
Successful Pregnancy ◽  
Multiple Variables ◽  
A Prospective Study

Background: Intrauterine Insemination (IUI) is one of the most common assisted reproductive technology methods in the world to treat various forms of infertility. The influence of number of IUI applied with the percentage of motile spermatozoa during insemination is critical on the likelihood of a successful pregnancy. The aim of our study is to assess the results of IUI as a function of the number of IUI applied with motile spermatozoa inseminated during intrauterine insemination in couples with infertility. Materials and methods: This is a prospective study conducted in Surgiscope Fertility Centre, Chattogram, Bangladesh over 21 months on 596 couples who underwent IUI from 01/12/2017 to 30/09/2019. We performed semen analysis of the male partner from the couples who underwent IUI, calculated the sperm motility and the relationship between number of IUI applied with motile spermatozoa and the pregnancy rate of IUI. Multiple variables were selected such as, patient parameters like age of female, number of IUI, percentage of motile spermatozoa inseminated, endometrial thickness and ovulation induction protocol which were recorded and statistically analyzed. Results: Among the 596 patients, the overall success rate was 11%. The maximum number of successes were observed in patients with 3 IUI applications whereas the success rate was lower in comparison with decreasing IUI applications. The regression between the success and number of insemination and age indicate that there is a statistically significant positive relationship between number of inseminations completed and the rate of successful pregnancy, but no significant relationship between the number of prewash sperm and successful pregnancy. These could be due to lower population size. As an ovulation inducing agent, a 12.42% success rate was observed among the patients administered with FSH whereas 9.28% was observed for patients administered with GONAL F. The mean endometrial thickness was observed to be 8.914 mm with a minimum thickness of 4.5 mm and a maximum thickness of 19 mm. Conclusion: The rationale for the use of insemination is to increase gamete density at the site of fertilization. This revealed that intrauterine insemination should be a firstchoice treatment rather than more invasive and expensive techniques of assisted reproduction in cases of cervical, unexplained and moderate male factor subfertility. Chatt Maa Shi Hosp Med Coll J; Vol.19 (2); July 2020; Page 41-45

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