ReviewPorto biomedical journal
Premature ovarian insufficiency: clinical orientations for genetic testing and genetic counseling.
Review in Porto biomedical journal. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 35 citations in OpenAlex.
- Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2026Article
- Transcriptomic Insights into Acupuncture Mechanisms in Protecting Ovarian Function in Mice with Premature Ovarian Insufficiency.Chinese journal of integrative medicine · 2026Article
- Identifying novel druggable targets and repurposable drugs for premature ovarian insufficiency by integrated multiomics and causal inference analysis.GeroScience · 2026Article
- STAG3 c.2776C > T, p.Arg926Ter is a recurrent variant in Russian patients with early-onset premature ovarian insufficiency.Journal of assisted reproduction and genetics · 2026Article
- LRRC4 Deficiency Drives Premature Ovarian Insufficiency by Disrupting Metabolic Homeostasis in Granulosa Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Can vildagliptin protect against radiation-induced premature ovarian failure? Insights into the AMPK and AKT signaling pathways.BMC pharmacology & toxicology · 2025Article
- Epigenomic Landscape of Human Cumulus Cells in Premature Ovarian Insufficiency Using Single-Base Resolution Methylome and Hydroxymethylome.Journal of cellular and molecular medicine · 2024Article
- X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature.Molecular cytogenetics · 2024Article
- DNA double-strand break genetic variants in patients with premature ovarian insufficiency.Journal of ovarian research · 2023Review
- Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.Nature medicine · 2023Article
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Oocyte aging in comparison to stem cells in mice.Frontiers in aging · 2023Review
- Human UC-MSC-derived exosomes facilitate ovarian renovation in rats with chemotherapy-induced premature ovarian insufficiency.Frontiers in endocrinology · 2023Review
- Biomedical and Antioxidant Potentialities in Chilli: Perspectives and Way Forward.Molecules (Basel, Switzerland) · 2022Review
- Article
- Current Research on Complementary and Alternative Medicine in the Treatment of Premature Ovarian Failure: An Update Review.Evidence-based complementary and alternative medicine : eCAM · 2022Review
- Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation.The application of clinical genetics · 2022Article
- Regulation of primordial follicle formation, dormancy, and activation in mice.The Journal of reproduction and development · 2021Review
- Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.Journal of assisted reproduction and genetics · 2021Article
- Ovarian Aging: Molecular Mechanisms and Medical Management.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Premature ovarian insufficiency (POI) is a heterogeneous disorder diagnosed in women before 40 years old and describes a wide range of impaired ovarian function, from diminished ovarian reserve to premature ovarian failure. Genetic etiology accounts for 20% to 25% of patients. The evidence that POI can be isolated (nonsyndromic) or part of a pleiotropic genetic syndrome highlights its high heterogeneous etiology. Chromosomal abnormalities as a cause of POI have a prevalence of 10% to 13%, being 45,X complement the most common cytogenetic cause of primary amenorrhea and mosaicism with a 45,X cell line more frequently associated with secondary amenorrhea. Other X chromosome aberrations include deletions, duplications, balanced, and unbalanced X-autosome rearrangements involving the critical region for the POI phenotype (Xq13-Xq21 to Xq23-Xq27). The identification of 2 or more pathogenic variants in distinct genes argues in favor of a polygenic origin for POI. Hundreds of pathogenic variants (including mitochondrial) have been involved in POI etiology mainly with key roles in biological processes in the ovary, such as meiosis and DNA damage repair mechanism, homologous recombination, follicular development, granulosa cell differentiation and proliferation, and ovulation. The most common single gene cause for POI is the premutation for
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.