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Swyer Syndrome: A diagnostic challenge.
JBRA Assist Reprod
March 2025
Department of Gynecology and Obstetrics, University Hospital Farhat Hached, Faculty of Medicine, Ibn Al Jazzar, University of Sousse, Sousse, Tunisia.
Swyer syndrome, represents a rare manifestation of primary amenorrhea arising from gonadal dysgenesis. This syndrome is distinguished by the manifestation of a female phenotype despite a 46, XY karyotype. We present the case of a patient aged 32 the second of three sisters; consulted for the first time with a main complaint of primary unexplored amenorrhea responsible for infertility of 1 year with a female phenotype and a male karyotype: 46XY.
View Article and Find Full Text PDFOvarian Mechanobiology: Understanding the Interplay Between Mechanics and Follicular Development.
Cells
February 2025
NUS Bia-Echo Asia Centre of Reproductive Longevity and Equality, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117456, Singapore.
The ovary is a dynamic organ where mechanical forces profoundly regulate follicular development, oocyte maturation, and overall reproductive function. These forces, originating from the extracellular matrix (ECM), granulosa and theca cells, and ovarian stroma, influence cellular behavior through mechanotransduction, translating mechanical stimuli into biochemical responses. This review explores the intricate interplay between mechanical cues and ovarian biology, focusing on key mechanosensitive pathways such as Hippo signaling, the PI3K/AKT pathway, and cytoskeletal remodeling, which govern follicular dormancy, activation, and growth.
View Article and Find Full Text PDFMolecular Basis of Impaired Decidualization in the Eutopic Endometrium of Endometriosis Patients.
Cells
February 2025
Unidad de Investigación en Reproducción Humana, Instituto Nacional de Perinatología (INPer)-Facultad de Química, Universidad Nacional Autónoma de México (UNAM), Mexico City 11000, Mexico.
Endometriosis is a chronic gynecological disorder characterized by the presence of endometrial tissue outside the uterine cavity. A common feature of this pathology is the impaired decidualization of endometrial stromal cells, a critical process that prepares the uterus for embryo implantation. This decidualization defect has been mechanistically linked to progesterone resistance in endometriotic lesions.
View Article and Find Full Text PDFBackground: Male factor infertility (MFI) is responsible for 50% of infertility cases and in 15% of the cases sperm is absent due to germ cell aplasia. Human induced pluripotent stem cell (hiPSC)-derived spermatogonial stem cells (hSSCs) could serve as an autologous germ cell source for MFI in patients with an insufficient sperm yield for assisted reproductive technology (ART). The endocannabinoid system (ECS) has been implicated to play a role in mouse embryonic stem cells (mESCs) and the human testicular environment.
View Article and Find Full Text PDFEndometrial immune profiling and precision therapy increase live birth rate after embryo transfer: a randomised controlled trial.
Front Immunol
March 2025
Centre d'Assistance Médicale à la Procréation, Hôpital des Bluets, Paris, France.
Introduction: Despite advancements in assisted reproductive treatments, 70% of transferred embryos fail to implant successfully, yielding significant personal and global repercussions. One promising avenue of research is to take into account the individual's immune uterine profile in order to tailor treatment and optimise outcomes. This randomised controlled trial represents the initial exploration into the consequences of disregarding the state of the uterine immune environment in infertile women embarking on IVF/ICSI.
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