Publications by authors named "J P Siffroi"
Objective: To study karyotypes of >8,200 oocyte donor candidates in nulliparous or multiparous women compared with a reference population.
Design: A retrospective observational multicentric study.
Setting: University Hospital Centers.
Introduction: Women with premutation (PM) of the FMR1 gene may suffer from reduced ovarian reserve or even premature ovarian insufficiency (POI). We studied hormonal and ultrasound ovarian reserve, fertility and fertility preservation outcomes in these patients.
Patients And Method: Retrospective cohort study of 63 female FMR1 premutation carriers.
Human sperm parameters serve as a first step in diagnosing male infertility, but not in determining the potential for successful pregnancy during assisted reproductive technologies (ARTs) procedures. Here, we investigated the relationship between sperm head morphology at high magnification, based on strict morphologic criteria, and the nuclear architecture analyzed by fluorescence in situ hybridization (FISH). We included five men.
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- - Primary ciliary dyskinesia (PCD) is a rare condition linked to dysfunctional cilia, primarily affecting males, but the study investigates the effects of X chromosome inactivation (XCI) in their healthy mothers who carry the mutation.
- - The analysis of six mothers revealed varying degrees of respiratory symptoms that correlated with their XCI patterns and the presence of normal ciliated cells in their airways.
- - The findings suggest that identifying female carriers of PCD mutations is essential, especially if they have mild respiratory issues, and highlight that having a sufficient proportion of normal ciliated cells can prevent severe symptoms, indicating potential for gene therapy.