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Record W3208379793 · doi:10.4103/ua.ua_41_21

Prevalence of Y-chromosomal microdeletions and karyotype abnormalities in a cohort of Lebanese infertile men

2021· article· en· W3208379793 on OpenAlexaff
Jad A Degheili, Aline A Yacoubian, Rana H Abu Dargham, Bassel G Bachir

Bibliographic record

VenueUrology Annals · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Canadian institutionsChildren's Hospital of Eastern Ontario
Fundersnot available
KeywordsY chromosome microdeletionMedicineInfertilityGynecologyKaryotypeMale infertilityGenetic testingObstetricsGenetic counselingKlinefelter syndromeChromosomePregnancyPediatricsGeneticsBiologyInternal medicine

Abstract

fetched live from OpenAlex

BACKGROUND: Male infertility is the main issue that accounts for 50% of infertility in couples. There are about 25% of men suffering from nonobstructive infertility with chromosomal abnormalities and/or microdeletions of the long arm of the Y-chromosome. MATERIALS AND METHODS: A retrospective chart review was performed on 241 men who performed Y-chromosome microdeletions and karyotype testing. RESULTS: Six patients had microdeletions. Three patients had AZFc microdeletion, of which one had both AZFc/d microdeletions. Three patients had AZFb/c microdeletion. There was no AZFa microdeletion. One out of the six patients had abnormal karyotype (mos, X[17]/46, XY[13]). Four patients were azoospermic, two had severe oligospermia, with sperm count <5 million/ml, and two patients had small size testicles on ultrasound. All were advised microsurgical testicular sperm extraction. Three were done, and one was successful resulting in sperm retrieval. The most common karyotype abnormalities were 47, XXY (Klinefelter syndrome) in 27% of cases. CONCLUSION: Laboratory genetic testing is advised for males with nonobstructive infertility. Any abnormal finding can yield substantial consequences to assisted reproductive techniques or fertility treatment. It can offer a stable diagnosis for those with infertility issues. It is important to conduct counseling and routine genetic testing before assisted reproductive techniques.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.011

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0020.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.013
GPT teacher head0.272
Teacher spread0.258 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations1
Published2021
Admission routes1
Has abstractyes

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