Research & Literature

Rapid and simultaneous screening of 47,XXY and AZF microdeletions by quadruplex real-time polymerase chain reaction.

Zhou Y, Ge Y, Xiao L, Guo Q

Reproductive biology 2015; (15(2)):113-21.

High Prevalence of Y Chromosome Partial Microdeletions in Overweight Men.

Biabangard Zak A, Golalipour M, Hadadchi G

Avicenna journal of medical biotechnology 2015; (7(3)):97-100.

THINK OF THE CHILDREN: SEX SELECTION AND CHILD WELFARE.

Wong R, Gillett G

Journal of law and medicine 2015; (22(4)):751-62.

Prevalence of Y Chromosome Microdeletions in Idiopathic Azoospermia Cases in Central Indian Men.

Ambulkar P, Chuadhary A, Waghmare J, et al.

Journal of clinical and diagnostic research : JCDR 2015; (9(9)):GC01-4 doi:10.7860/JCDR/2015/15249.6515.

Multiplex PCR based screening for micro/partial deletions in the AZF region of Y-chromosome in severe oligozoospermic and azoospermic infertile men in Iran.

Motovali-Bashi M, Rezaei Z, Dehghanian F, Rezaei H

Iranian journal of reproductive medicine 2015; (13(9)):563-70.

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.

Stouffs K, Gheldof A, Tournaye H, et al.

BioMed research international 2016; (2016()):6191307 doi:10.1155/2016/6191307.

Complete Azoospermia Factor b Deletion of Y Chromosome in an Infertile Male With Severe Oligoasthenozoospermia: Case Report and Literature Review.

Zhang YS, Li LL, Xue LT, et al.

Urology 2017; (102()):111-115 doi:10.1016/j.urology.2016.07.022.

The Prevalence of Y Chromosome Microdeletions in Iranian Infertile Men with Azoospermia and Severe Oligospermia.

Asadi F, Sadighi Gilani MA, Ghaheri A, et al.

Cell journal 2017; (19(1)):27-33 doi:10.22074/cellj.2016.4863.

Y Chromosome Microdeletions in Infertile Men with Non-obstructive Azoospermia and Severe Oligozoospermia.

Kim SY, Kim HJ, Lee BY, et al.

Journal of reproduction & infertility 2017; (18(3)):307-315.

Y chromosome microdeletions and varicocele as aetiological factors of male infertility: A cross-sectional study.

de Sousa Filho EP, Christofolini DM, Barbosa CP, et al.

Andrologia 2018; (50(3)) doi:10.1111/and.12938.

Genetics of the human Y chromosome and its association with male infertility.

Colaco S, Modi D

Reproductive biology and endocrinology : RB&E 2018; (16(1)):14 doi:10.1186/s12958-018-0330-5.

Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients.

Kim SY, Lee BY, Oh AR, et al.

Cytogenetic and genome research 2017; (153(4)):190-197 doi:10.1159/000487039.

Successful microdissection testicular sperm extraction for men with non-obstructive azoospermia.

Klami R, Mankonen H, Perheentupa A

Reproductive biology 2018; (18(2)):137-142 doi:10.1016/j.repbio.2018.03.003.

Natural Transmission of b2/b3 Subdeletion or Duplication to Expanded Y Chromosome Microdeletions.

Pan Y, Li LL, Yu Y, et al.

Medical science monitor : international medical journal of experimental and clinical research 2018; (24()):6559-6563 doi:10.12659/MSM.911644.

Incidence of Y chromosome microdeletions in patients with Klinefelter syndrome.

Sciarra F, Pelloni M, Faja F, et al.

Journal of endocrinological investigation 2019; (42(7)):833-842 doi:10.1007/s40618-018-0989-7.

Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study.

Yang X, Zhu D, Zhang H, et al.

Medicine 2018; (97(49)):e13493 doi:10.1097/MD.0000000000013493.

Early detection of Y chromosome microdeletions in infertile men is helpful to guide clinical reproductive treatments in southwest of China.

Liu T, Song YX, Jiang YM

Medicine 2019; (98(5)):e14350 doi:10.1097/MD.0000000000014350.

Consequences of Y chromosome microdeletions beyond male infertility.

Colaco S, Modi D

Journal of assisted reproduction and genetics 2019; (36(7)):1329-1337 doi:10.1007/s10815-019-01492-z.

Chromosomal and Y-chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions.

Abur U, Gunes S, Ascı R, et al.

Andrologia 2019; (51(11)):e13402 doi:10.1111/and.13402.

Karyotypic abnormalities and molecular analysis of Y chromosome microdeletion in Iranian Azeri Turkish population infertile men.

Akbarzadeh Khiavi M, Jalili A, Safary A, et al.

Systems biology in reproductive medicine 2020; (66(2)):140-146 doi:10.1080/19396368.2019.1682083.

The Association of Partial Azoospermia Factor C Deletions and Male Infertility in Northwestern China.

Liu C, Zhao X, Mu C, et al.

Human heredity 2019; (84(3)):144-150 doi:10.1159/000504607.

Sperm retrieval rates and clinical outcomes for patients with different causes of azoospermia who undergo microdissection testicular sperm extraction-intracytoplasmic sperm injection.

Zhang HL, Zhao LM, Mao JM, et al.

Asian journal of andrology 2021; (23(1)):59-63 doi:10.4103/aja.aja_12_20.

Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature.

Arshad MA, Majzoub A, Esteves SC

International urology and nephrology 2020; (52(11)):2015-2038 doi:10.1007/s11255-020-02529-4.

Deletion of b1/b3 shows risk for expanse of Yq microdeletion in male offspring: Case report of novel Y chromosome variations.

Liu X, Zhang H, Yu Y, et al.

Medicine 2020; (99(37)):e22124 doi:10.1097/MD.0000000000022124.

Genetic disorders and male infertility.

Kuroda S, Usui K, Sanjo H, et al.

Reproductive medicine and biology 2020; (19(4)):314-322 doi:10.1002/rmb2.12336.

Clinical implications of Y chromosome microdeletions among infertile men.

Punjani N, Kang C, Schlegel PN

Best practice & research. Clinical endocrinology & metabolism 2020; (34(6)):101471 doi:10.1016/j.beem.2020.101471.

Y chromosome structural variation in infertile men detected by targeted next-generation sequencing.

Liu X, Zhang H, Zhang X, et al.

Journal of assisted reproduction and genetics 2021; (38(4)):941-948 doi:10.1007/s10815-020-02031-x.

Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.

Cerván-Martín M, Bossini-Castillo L, Rivera-Egea R, et al.

Andrology 2021; (9(4)):1151-1165 doi:10.1111/andr.13009.

Histology and sperm retrieval among men with Y chromosome microdeletions.

Yuen W, Golin AP, Flannigan R, Schlegel PN

Translational andrology and urology 2021; (10(3)):1442-1456 doi:10.21037/tau.2020.03.35.

Investigation of genotype-phenotype correlation in patients with AZF microdeletion in a single-reference centre.

Uzay E, Kızılay F, Altay B, et al.

Andrologia 2021; (53(10)):e14188 doi:10.1111/and.14188.

Abnormal Y chromosome detection in infertile males using multiplex ligation-dependent probe amplification.

Dai X, Shi F, Cheung CKY, et al.

Andrologia 2022; (54(2)):e14316 doi:10.1111/and.14316.

Prediction Models for Successful Sperm Retrieval in Patients with Non-Obstructive Azoospermia Undergoing Microdissection Testicular Sperm Extraction: Is There Any Room for Further Studies?

Caroppo E, Colpi GM

Journal of clinical medicine 2021; (10(23)) doi:10.3390/jcm10235538.

A case of problems in supporting a patient after Y-chromosome long arm microdeletion testing at a Japanese general hospital.

Tanabe S, Imai S, Kobayashi H, et al.

Urology case reports 2022; (40()):101960 doi:10.1016/j.eucr.2021.101960.

Use of reproductive technology for sex selection for nonmedical reasons: an Ethics Committee opinion.

Fertility and sterility 2022; (117(4)):720-726 doi:10.1016/j.fertnstert.2021.12.024.

Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub-region in infertile Iraqi patients with azoospermia and severe oligozoospermia.

S Al-Ouqaili MT, Al-Ani SK, Alaany R, Al-Qaisi MN

Journal of clinical laboratory analysis 2022; (36(3)):e24272 doi:10.1002/jcla.24272.

Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region.

Deng CY, Zhang Z, Tang WH, Jiang H

Asian journal of andrology 2023; (25(1)):5-12 doi:10.4103/aja2021130.

State-Mandated Insurance Coverage and Preimplantation Genetic Testing in the United States.

Bedrick BS, Tipping AD, Nickel KB, et al.

Obstetrics and gynecology 2022; (139(4)):500-508 doi:10.1097/AOG.0000000000004712.

Combining PGT-A with PGT-M risks trying to do too much.

Scriven PN

Journal of assisted reproduction and genetics 2022; (39(9)):2015-2018 doi:10.1007/s10815-022-02519-8.

[Analysis of clinical outcome of synchronous micro-dissection testicular sperm extraction and intracytoplasmic sperm injection in male infertility with Y chromosome azoospermia factor c region deletion].

Mao JM, Zhao LM, Liu DF, et al.

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2022; (54(4)):652-657.

Micro-TESE strategy in patients with NOA caused by AZFc deletion: synchronous or asynchronous?

Mao J, Deng C, Zhao L, et al.

Zygote (Cambridge, England) 2023; (31(1)):25-30 doi:10.1017/S0967199422000466.

Bridging the Gap between AZF Microdeletions and Karyotype: Twelve Years' Experience of an Infertility Center.

Kalantari H, Sabbaghian M, Vogiatzi P, et al.

The world journal of men's health 2023; (41(3)):659-670 doi:10.5534/wjmh.220089.

Y chromosome microdeletions in Chinese men with infertility: prevalence, phenotypes, and intracytoplasmic sperm injection outcomes.

Chen D, Fan G, Zhu X, et al.

Reproductive biology and endocrinology : RB&E 2023; (21(1)):116 doi:10.1186/s12958-023-01168-5.

Increased Y Chromosome Microdeletions in Cord Blood of Male Newborns From Assisted Reproductive Technology Compared to Natural Conception.

Ng R, Stanar P, Louie K, et al.

Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2024; (46(4)):102342 doi:10.1016/j.jogc.2023.102342.

An analysis of Y-chromosome microdeletion in infertile Korean men with severe oligozoospermia or azoospermia.

Lee TH, Song SH, Kim DK, et al.

Investigative and clinical urology 2024; (65(1)):77-83 doi:10.4111/icu.20230141.

A step closer to parenthood with non-obstructive azoospermia: Unveiling the impact of microdissection testicular sperm extraction in Australia's largest single-centre study.

Elzeiny H, Agresta F, Stevens J, Gardner DK

The Australian & New Zealand journal of obstetrics & gynaecology 2024; (64(4)):347-353 doi:10.1111/ajo.13800.

Whole transcriptome analysis to identify non-coding RNA regulators and hub genes in sperm of non-obstructive azoospermia by microarray, single-cell RNA sequencing, weighted gene co-expression network analysis, and mRNA-miRNA-lncRNA interaction analysis.

Karoii DH, Azizi H, Skutella T

BMC genomics 2024; (25(1)):583 doi:10.1186/s12864-024-10506-9.

Aneuploidy rates and likelihood of obtaining a usable embryo for transfer among in vitro fertilization cycles using preimplantation genetic testing for monogenic disorders and aneuploidy compared with in vitro fertilization cycles using preimplantation genetic testing for aneuploidy alone.

Martel RA, Lee MB, Schadwell A, et al.

Fertility and sterility 2024; (122(6)):993-1001 doi:10.1016/j.fertnstert.2024.07.030.

A homozygous missense variant in YTHDC2 induces azoospermia in two siblings.

Tian S, Faheem M, Satti HS, et al.

Molecular genetics and genomics : MGG 2024; (299(1)):84 doi:10.1007/s00438-024-02168-9.

A retrospective analysis of 1600 infertility patients with azoospermia and severe oligozoospermia.

Yi Zhou B, Ting Fu W, Gu H, et al.

Clinica chimica acta; international journal of clinical chemistry 2025; (565()):119973 doi:10.1016/j.cca.2024.119973.

Unveiling Leydig cell heterogeneity and its role in male infertility: A single-cell transcriptomic study of human testicular tissue.

Zhou L, Liu H, Chen Y, et al.

Reproductive biology 2025; (25(1)):100972 doi:10.1016/j.repbio.2024.100972.

FertilitY Predictor-a machine learning-based web tool for the prediction of assisted reproduction outcomes in men with Y chromosome microdeletions.

Colaco S, Narad P, Singh AK, et al.

Journal of assisted reproduction and genetics 2025; (42(2)):473-481 doi:10.1007/s10815-024-03338-9.

The Y chromosome: male reproduction and beyond.

Krausz C, Abrardo C

Fertility and sterility 2025; (123(6)):921-932 doi:10.1016/j.fertnstert.2025.03.006.

Impact of AZFc deletion subtypes on sperm retrieval rates via micro-TESE and ICSI outcomes in non-obstructive azoospermia patients.

Xia Y, Feng K, Qu X, et al.

Scientific reports 2025; (15(1)):22148 doi:10.1038/s41598-025-03312-0.

Navigating male infertility through testicular biopsy: outcomes, predictive parameters, and surgical innovation.

Filiponi M, Zachariou A

Systems biology in reproductive medicine 2025; (71(1)):402-415 doi:10.1080/19396368.2025.2551006.

Association of Y Chromosome Microdeletions with Reproductive Profiles in 2010 Infertile Male Patients in China.

Chen G, Huang P, Li H, et al.

The application of clinical genetics 2025; (18()):275-282 doi:10.2147/TACG.S560740.

Sertoli cell-only syndrome (Del Castillo syndrome): Past, present and future.

Valdes-Socin H, Parisel A, Coppens L, et al.

Annales d'endocrinologie 2026; (87(1)):102481 doi:10.1016/j.ando.2025.102481.

Sertoli cells-only syndrome: current clinical approaches and ongoing research trends.

Eugeni E, Arato I, Mancuso F, et al.

Frontiers in endocrinology 2025; (16()):1715642 doi:10.3389/fendo.2025.1715642.

The genetic aetiology of male infertility: clinical and forensic implications.

Anand R, Dave V, Shukla MA

Molecular biology reports 2026; (53(1)):364 doi:10.1007/s11033-026-11515-5.

Precise exome analysis of blastocyst biopsy scale samples using primary template-directed amplification.

Samitova A, Belova V, Vasiliadis I, et al.

BMC genomics 2026; (27(1)).