ArticleJournal of pediatric and adolescent gynecology2020
Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy.
Article in Journal of pediatric and adolescent gynecology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Long-term outcomes in 45,X/46,XY mosaicism: a 30-year retrospective study in Hong Kong.Annals of pediatric endocrinology & metabolism · 2026Article
- Balancing oncologic risk and fertility potential: a single-center study on Turner syndrome patients with Y chromosome material.Frontiers in endocrinology · 2026Article
- Approach to the Patient With Turner Syndrome.The Journal of clinical endocrinology and metabolism · 2025Review
- Histologic analysis of gonadal tissue in patients with Turner syndrome and Y chromosome material.Journal of pediatric urology · 2025Article
- Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project.Journal of endocrinological investigation · 2024Article
- Carotid Intima-Media Thickness and Cardiometabolic Profile in Turner Syndrome: A Cross-Sectional Study.Cureus · 2024Article
- Challenges in the management of Turner syndrome with Y chromosome material: a case report of prophylactic gonadectomy revealing dysgerminoma.International cancer conference journal · 2024Article
- Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review.Molecular genetics & genomic medicine · 2023Review
- Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy).Balkan journal of medical genetics : BJMG · 2023Article
- Genomic instability in individuals with sex determination defects and germ cell cancer.Cell death discovery · 2023Article
- Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential.Frontiers in endocrinology · 2023Review
- Ovarian dysfunction in women with Turner syndrome.Frontiers in endocrinology · 2023Review
- Gonadectomy in Individuals with Turner Syndrome and Y Chromosome Material: Fertility Considerations.Journal of pediatric and adolescent gynecology · 2022Article
- The Care of Adolescents and Young Adults with Turner Syndrome: A Pediatric and Adolescent Gynecology Perspective.Journal of pediatric and adolescent gynecology · 2022Review
- Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies.Frontiers in pediatrics · 2022Article
- Y Chromosome Material in Turner Syndrome.Cureus · 2021Article
- Disorders of Sex Development-Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation.International journal of molecular sciences · 2020Review
- Germ cell and other tumors in individuals with differences in sex development.CA: a cancer journal for cliniciansReview
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
STUDY
objectiveGirls with Turner syndrome with Y-chromosome material (TS + Y) are assumed to have nonfunctional gonads with increased tumor risk, therefore prophylactic gonadectomy is recommended at diagnosis. In this study we aimed to determine rates of spontaneous thelarche (ST) and spontaneous menarche (SM), and prevalence of gonadal tumor and malignancy in girls with TS + Y, to further inform discussions about gonadectomy.
designRetrospective review of clinical and pathology data.
settingMulticenter study involving 4 United States children's hospitals.
participantsPatients included those with a genetically proven diagnosis of TS + Y and phenotypically female genitourinary exam.
interventionsDemographic characteristics, pubertal development, and gonadal pathology data were abstracted from clinical records. Data for ST were analyzed for patients aged 13 years and older and SM for patients older than 15 years.
main outcome measuresST, SM, prevalence of gonadal tumor, and malignancy.
resultsForty-four patients met inclusion criteria. Nineteen patients were 13 years or older; 8/19 (42%) had ST and reached Tanner stages 2-4 and 2 (11%) had normal ovarian pathology. Nineteen patients were 15 years or older; 2/19 (11%) had SM. Thirty-seven patients underwent gonadectomy; 35 had available pathology results. Gonadoblastoma was identified in 35/7 patients (19%), 1 in situ germ cell neoplasia, and 1 dysgerminoma (3%). One patient with bilateral gonadoblastoma had ST and SM.
conclusionIn this multicenter cohort, 42% of girls with TS + Y entered puberty spontaneously and 11% had SM, supportive of gonadal function. Risk of tumor was similar to previous reports. To achieve informed decision-making, discussions about gonadectomy should incorporate potential for gonadal function and tumor risk.
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What OpenQuestion holds
Registered trials
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.