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Association of estrogen and progesterone receptor polymorphisms with idiopathic thin endometrium.

Pharmacogenet Genomics

January 2025

Reproductive Medicine, Instituto Bernabeu of Fertility and Gynaecology.

The research question is as follows: Are estrogen and progesterone receptor genotypes associated with thin endometrium? We performed a prospective cohort study of 129 patients who underwent preimplantation genetic testing for aneuploidies. These patients were categorized according to endometrial thickness: >7 mm control group (n = 94) and ≤7 mm study group (n = 35). Polymorphisms in the genes ESR1 (rs9340799 and rs3138774), ESR2 (rs1256049 and rs4986938), and PGR (rs1042838) were analyzed.

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Intramural pregnancy (IMP) is an extremely rare form of ectopic pregnancy (EP), typically associated with previous uterine trauma, adenomyosis, or assisted reproductive technology (ART), such as embryo transfer (ET). Despite its potentially life-threatening nature, the absence of definitive preoperative diagnostic criteria for IMP complicates its early detection and management, especially in patients without known risk factors. Additionally, management becomes more challenging when there is an elevated risk of hemorrhage.

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Objectives: Juvenile idiopathic arthritis (JIA) originates from a complex interplay between genetic and environmental factors. We investigated the association between seafood intake and dietary contaminant exposure during pregnancy and JIA risk, to identify sex differences and gene-environment interactions.

Methods: We used the Norwegian Mother, Father, and Child Cohort Study (MoBa), a population-based prospective pregnancy cohort (1999-2008).

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Objectives: Acetylated tubulin is a hallmark of flagellar stability in spermatozoa, and studies have demonstrated the ability of CDYL to function as a tubulin acetyltransferase in spermatozoa. Of note, germline conditional knockout of Cdyl can lead to asthenoteratozoospermia and infertility in male mice. However, the role of CDYL gene in human fertility remains uncharacterized.

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Purpose: Infertility is defined as the inability to conceive after 1 year of unprotected intercourse, affecting approximately 15-20% of couples in Western countries. It is a shared problem within the couple; when the main issue lies with one of the partners, it is preferable to refer to "male factor" or "female factor" infertility rather than simply male or female infertility. Despite male factor infertility accounting for half of all couple infertility cases, the clinical approach to the male partner is not uniformly standardized across international guidelines.

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