Unraveling the Puzzle: Oocyte Maturation Abnormalities (OMAS)

Hatırnaz, Şafak; Hatırnaz, Ebru; Çelik, Samettin; Çalışkan, Canan Soyer; Tinelli, Andrea; Malvasi, Antonio; Sparić, Radmila; Baldini, Domenico; Stark, Michael; Dahan, Michael H.

doi:10.3390/diagnostics12102501

Cited by 9 publications

(3 citation statements)

References 79 publications

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“…Repeated EFS may be associated with premature oocyte atresia or oocyte maturation disorders, with the oocytes obtained presented as germinal vesicle (GV) or MI stage ( 25 ), immature oocytes without zona pellucida ( 26 ), or with an identifiable zona but devoid of oocytes ( 27 ). Our study identified two patients with repeated EFS, whose oocytes were all in the MI stage with abnormal zona pellucida, consistent with previous findings.…”

Section: Discussionmentioning

confidence: 99%

Risk factors, management, and future fertility of empty follicle syndrome: a retrospective study with real-world data

Luo,

Xu,

Hao

2024

Front. Endocrinol.

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BackgroundEmpty follicle syndrome (EFS) is a challenging clinical problem. This study aims to identify the risk factors for EFS, to present pregnancy outcomes in both EFS cycle as well as subsequent cycles, and to summarize an effective rescue protocol to improve outcomes.MethodsA retrospective analysis between 2016 and 2020 was conducted at our center. Stricter criteria were applied to diagnose EFS. Logistic regression analysis was used to identify the risk factors for EFS. Further analyses were performed within the EFS cycle to present pregnancy outcomes and to find optimal rescue protocols. Long-term follow-up was conducted until live birth was achieved, covering at least two complete oocyte retrieval cycles.ResultsAmong 14,066 patients, 54 (0.38%) were identified as EFS. Patients with polycystic ovary syndrome (PCOS) had a significantly higher risk of developing EFS than non-PCOS ones (aOR = 2.67; 95% CI, 1.47 to 4.83). Within EFS patients, delaying the second oocyte retrieval by 3–6 h significantly improved the rates of obtaining oocyte (97.4% versus 58.3%, P = 0.002), getting embryo available for transfer (92.3% versus 33.3%, P < 0.001), and pregnancy (48.7% versus 8.3%, P = 0.017) compared to other delayed retrieval times. Overall, 31.5% (17/54) and 46.7% (7/15) EFS patients achieved live birth in the EFS cycle and the future cycle, respectively.ConclusionsPCOS is an independent risk factor for EFS, indicating that longer exposure time to human chorionic gonadotropin (hCG) may be necessary. Delaying the second oocyte retrieval by 3–6 h is an effective rescue protocol for EFS patients to achieve optimal outcomes. EFS in a single cycle does not necessarily indicate future fertility decline, but repeated EFS may result in poor outcomes.

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Section: Discussionmentioning

confidence: 99%

Risk factors, management, and future fertility of empty follicle syndrome: a retrospective study with real-world data

Luo,

Xu,

Hao

2024

Front. Endocrinol.

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“…Although PATL2 expression is almost undetectable after extrusion of the first polar body in normal oocytes, early dysfunction has a subsequent effect on oocyte outcome. Recently, the results of the study by Hatirnaz and team provided the hope of pregnancy for patients with oocyte maturation abnormalities ( Hatirnaz et al, 2022 ). According to the Hatirnaz and Dahan Classification System, the ongoing pregnancy in women with type II (MI arrest) and type V (GV, MI and MII mixed arrest) oocyte seemed to be achieved by dual stimulation in in vitro maturation (Duastim IVM) in the Hartinaz clinic; this did not include patients with Type I (GV arrest), Type III (MII arrest) and Type IV (GV-MI arrest) oocyte abnormalities.…”

Section: Discussionmentioning

confidence: 99%

“…One patient had two failed IVF attempts because of GV arrest by PANX1 mutation and was treated with letrozole priming IVM, and one fertilised embryo was obtained, giving the PANX1 mutation oocyte a living potential. Therefore, this led to an important step forward in therapy ( Hatirnaz et al, 2022 ). But at present the patients with pathogenic mutations are still suggested to stop the recurrent self oocyte attempts and refer to a oocyte donation strategy.…”

Section: Discussionmentioning

confidence: 99%

High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach

et al. 2023

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Topoisomerase II homologue 2 (PATL2) has been confirmed to be a key gene that contributes to oocyte maturation. However, the allele distribution and carrier frequency of these mutations remain uncharacterized. So a bioinformatics subcategory analysis of PATL2 mutations from outcome data and Single Nucleotide Polymorphism (SNP) databases was conducted. Altogether, the causative PATL2 mutation number detected in patients with oocyte maturation defects in the clinical studies and pathogenic PATL2 mutation sites predicted by software based on the database was approximately 53. The estimated carrier frequency of pathogenic mutation sites was at least 1.14‰ based on the gnomAD and ExAC database, which was approximately 1/877. The highest frequency of mutations detected in the independent patients was c.223-14_223-2del13. The carrier frequency of this mutation in the population was 0.25‰, which may be a potential threat to fertility. Estimated allele and carrier frequency are relatively higher than those predicted previously based on clinical ascertainment. A review of PATL2 mutation lineage identified in 34 patients showed that 53.81%, 9.22% and 14.72% of the oocytes with PATL2 mutations were arrested at the germinal vesicle (GV) stage, metaphase I (MI) stage and first polar body stage, respectively. Oocytes that could develop to the first polar body stage were extremely rare to fertilise, and their ultimate fate was early embryonic arrest. Phenotypic variability is related to the function of the regions and degree of loss of function of PATL2 protein. A 3D protein structure changes predicted by online tools, AlphaFold, showed aberrations at the mutation sites, which may explain partially the function loss. When the mutated and wild-type proteins are not in the same amino acid category, the protein structure will be considerably unstable. The integration of additional mutation sites with phenotypes is helpful in drawing a complete picture of the disease. Bioinformatics analysis of PATL2 mutations will help reveal molecular epidemiological characteristics and provide an important reference for new mutation assessment, genetic counselling and drug research.

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Oocyte in-vitro maturation primed with letrozole-HCG versus FSH-HCG in women with oocyte maturation abnormalities: a retrospective study

Hatirnaz,

Urkmez

et al. 2024

Reproductive BioMedicine Online

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Unraveling the Puzzle: Oocyte Maturation Abnormalities (OMAS)

Cited by 9 publications

References 79 publications

Risk factors, management, and future fertility of empty follicle syndrome: a retrospective study with real-world data

Risk factors, management, and future fertility of empty follicle syndrome: a retrospective study with real-world data

High carrier frequency of pathogenic PATL2 gene mutations predicted in population: a bioinformatics-based approach

Oocyte in-vitro maturation primed with letrozole-HCG versus FSH-HCG in women with oocyte maturation abnormalities: a retrospective study

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