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Validation of a mail-in delayed semen analysis protocol developed for home collection.
F S Rep
December 2024
Quest Diagnostics, Secaucus, New Jersey.
Objective: To validate a mail-in delayed semen analysis service using deidentified remnant samples from a US fertility clinic.
Design: Double-blinded prospective validation of screening/diagnostic test.
Setting: Fertility clinic and clinical reference laboratory.
Successful pregnancy after preimplantation genetic testing for structural rearrangements in a couple with complex chromosome rearrangement and recurrent in vitro fertilization failures: a case report.
F S Rep
December 2024
Clinical Department, Al Ain Fertility Center, Al Ain, Abu Dhabi, United Arab Emirates.
Objective: To present a case of a couple with 20 years of infertility and 10 recurrent in vitro fertilization (IVF) failures, identifying a paternal complex chromosome rearrangement using high-resolution karyotype together with preimplantation genetic testing for structural rearrangements (PGT-SR) and utilizing IVF-intracytoplasmic sperm injection to achieve a successful pregnancy.
Design: Case report.
Setting: Al Ain Fertility Center, Abu Dhabi, United Arab Emirates.
Genetic Underpinnings of Oligoasthenoteratozoospermia.
Clin Genet
January 2025
School of Medicine, Yunnan University, Kunming, Yunnan, China.
Oligoasthenoteratozoospermia (OAT) is a frequent but severe type of male infertility. As one of the most multifaceted male infertility resulting from sperm problems, its genetic etiology remains unknown in most cases. In this review, we systematically sort out the latest literature on clinical reports and animal models leading to OAT, summarise the expression profiles of causative genes for OAT, and highlight the important role of the protein transport system during spermiogenesis, spermatid cell-specific genes, Golgi and acrosome-related genes, manchette-related genes, HTCA-related genes, and axoneme-related genes in OAT development.
View Article and Find Full Text PDFIntroduction to androgenetics: terminology, approaches, and impactful studies across 60 years.
Andrology
January 2025
Chair of Human Genetics, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
Across six decades, androgenetics has consistently concentrated on discovering genetic causes and enhancing the molecular diagnostics of male infertility, disorders of sex development, and their broader implications on health, such as cancer and other comorbidities. Despite vast clinical knowledge, the training of andrologists often lacks fundamental basics in medical genetics. This work, as part of the Special Issue of Andrology "Genetics in Andrology", provides the core terminology in medical genetics and technological advancements in genomics, required to understand the ever-progressing research in the field.
View Article and Find Full Text PDFA recurrent loss-of-function variant in DRC1 causes non-syndromic severe asthenozoospermia with favorable intracytoplasmic sperm injection and pregnancy outcomes.
Andrology
January 2025
Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, University of Grenoble Alpes, Grenoble, France.
Background: Asthenozoospermia, characterized by reduced sperm motility, is a common cause of male infertility. Multiple morphological abnormalities of the sperm flagella (MMAF) represent a severe and genetically heterogeneous form of asthenozoospermia. Over 50 genes have been associated, but approximately half of MMAF cases remain unexplained.
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