Background: Microdeletions in the Y-chromosome are known to cause a significant proportion of azoo- and oligozoospermia in men. The reported frequency of deletions varies greatly between the studies. Probable reasons for this variation are different selection criteria and number of patients included, and possibly also methodological aspects, whereas the contribution of environmental and genetic factors is not known. The aim of this study was to determine the incidence of Y-chromosome microdeletions among infertile Finnish men.
Methods: Two hundred and one men showing azoospermia (n=68) or severe oligozoospermia (n=133) were included. Multiplex polymerase chain reaction method was used to amplify specific sequence tagged sites (STS) along the Y chromosome.
Results: Microdeletions were observed in 18 men (9%), of whom four were azoospermic and 14 oligozoospermic.
Conclusions: The incidence of Y-deletions in the study population of infertile Finnish men falls within the range published in other countries.
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Fertil Steril
January 2025
Department of Obstetrics and Gynecology, Medical Research Centre, Research Unit of Clinical Medicine, University of Oulu, Oulu University Hospital, Oulu, Finland.
Objective: To study ferritin levels, and potential factors influencing them, in women with polycystic ovary syndrome (PCOS), and to investigate potential associations between ferritin levels and other parameters in these women.
Design: Longitudinal general population -based cohort study, including data from both questionnaires and clinical measurements.
Subjects: The study was conducted with data from the participants of the Women's Health Study, including a total of 1918 Finnish women, around 35 years of age.
Commun Med (Lond)
December 2024
Environmental Epigenetics Laboratory, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
Background: Assisted reproductive technology (ART) has been associated with increased risks for growth disturbance, disrupted imprinting as well as cardiovascular and metabolic disorders. However, the molecular mechanisms and whether they are a result of the ART procedures or the underlying subfertility are unknown.
Methods: We performed genome-wide DNA methylation (EPIC Illumina microarrays) and gene expression (mRNA sequencing) analyses for a total of 80 ART and 77 control placentas.
Hum Reprod
January 2025
Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.
Study Question: To what extent can hypertensive disorders in pregnancy (HDP) explain the higher risk of preterm birth following frozen embryo transfer (frozen-ET) and fresh embryo transfer (fresh-ET) in ART compared with naturally conceived pregnancies?
Summary Answer: HDP did not contribute to the higher risk of preterm birth in pregnancies after fresh-ET but mediated 20.7% of the association between frozen-ET and preterm birth.
What Is Known Already: Risk of preterm birth is higher after ART compared to natural conception.
Am J Hum Genet
December 2024
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland. Electronic address:
Female infertility is a common and complex health problem affecting millions of women worldwide. While multiple factors can contribute to this condition, the underlying cause remains elusive in up to 15%-30% of affected individuals. In our large genome-wide association study (GWAS) of 22,849 women with infertility and 198,989 control individuals from the Finnish population cohort FinnGen, we unveil a landscape of genetic factors associated with the disorder.
View Article and Find Full Text PDFClin Genet
November 2024
Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
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