ArticleFertility and sterility2023
Primary ovarian insufficiency has strong familiality: results of a multigenerational genealogical study.
Article in Fertility and sterility, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Performance of exome sequencing in premature ovarian insufficiency: a systematic review and meta-analysis.BMC pregnancy and childbirth · 2026Pooled it
- 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
- Early in, early out: reproductive lifespan timing and cardiometabolic risk in women.Journal of endocrinological investigation · 2026Review
- A Novel BIRC6 Variant Impairs Apoptotic Regulation in Familial Premature Ovarian Insufficiency: Functional Validation in a CRISPR/Cas9 Zebrafish Model.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- Article
- Autoimmune Disease is Increased in Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025Article
- Changing Etiological Spectrum of Premature Ovarian Insufficiency over the Past Decades: A Comparative Analysis of Two Cohorts from a Single Center.Diagnostics (Basel, Switzerland) · 2025Article
- Breast Cancer Is Increased in Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025Article
- Azoospermia/Oligozoospermia and Prostate Cancer Are Increased in Families of Women With Primary Ovarian Insufficiency.Journal of the Endocrine Society · 2025Article
- Turner syndrome: fertility, familial clustering, and cancer risk.Human reproduction (Oxford, England) · 2025Article
- Searching for the 'X' factor: investigating the genetics of primary ovarian insufficiency.Journal of ovarian research · 2024Review
- Female fertility preservation for family planning: a position statement of the Italian Society of Fertility and Sterility and Reproductive Medicine (SIFES-MR).Journal of assisted reproduction and genetics · 2024Article
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- Family size for women with primary ovarian insufficiency and their relatives.Human reproduction (Oxford, England) · 2023Article
- DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis.The Journal of clinical endocrinology and metabolism · 2023Observational
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveTo determine the familiality of primary ovarian insufficiency (POI) at population level through examination of multigenerational genealogical information linked to electronic medical records.
designCase-control study.
settingNot applicable. PATIENT(S): Women with POI were identified using International Classification of Disease 9 and 10 codes in electronic medical records (1995-2021) from 2 major health care systems in Utah and reviewed for accuracy. Cases were linked to genealogy information in the Utah Population Database (UPDB). All included POI cases (n = 396) were required to have genealogy information available for at least 3 generations of ancestors. The risk of POI in relatives was compared with population rates for POI matched by age, sex, and birthplace. INTERVENTION(S): Not applicable. MAIN OUTCOME MEASURE(S): Relative risk of POI in first-, second-, and third-degree relatives. RESULT(S): We identified 396 validated cases of POI with an associated 2,132 first-degree relatives, 5,245 second-degree relatives, and 10,853 third-degree relatives. We found an increased risk of POI among the extended relatives of cases. Specifically, first-degree relatives demonstrated an 18-fold increased risk of POI compared with controls relative risk ([RR],18.52 95% confidence interval [CI], 10.12-31.07), second-degree relatives demonstrated a 4-fold increase (RR, 4.21; CI, 1.15-10.79), and third-degree relatives demonstrated a 2.7-fold increase (RR, 2.65; CI, 1.14-5.21]). CONCLUSION(S): This is the first population-based study to assess the familial clustering of POI. The data demonstrate excess familiality, familial clustering of POI in excess compared with matched population rates of disease, among first-, second-, and third-degree relatives. These findings support a genetic contribution to POI.
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