ArticleInternational journal of pediatric endocrinology2014
State of the art review in gonadal dysgenesis: challenges in diagnosis and management.
Article in International journal of pediatric endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
What it found
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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
47 citing papers in PubMed, 154 citations in OpenAlex.
- Gonadal dysgenesis is associated with worse outcomes in patients with ovarian nondysgerminomatous tumors: A report of the Children's Oncology Group AGCT 0132 study.Pediatric blood & cancer · 2018Trial
- Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches.Clinical endocrinology · 2026Review
- Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis.The Journal of clinical endocrinology and metabolism · 2025Article
- Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With NovelJCEM case reports · 2025Article
- Differences of sex development.Nature reviews. Disease primers · 2025Review
- A novel androgen resistance gene mutation (p.G590W) in complete androgen insensitivity syndrome: Emphasizing the need for early gonadectomy and integrated patient care.The Journal of international medical research · 2025Article
- Swyer Syndrome: A diagnostic challenge.JBRA assisted reproduction · 2025Article
- Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.Frontiers in pediatrics · 2025Article
- Bilateral Streak Ovaries in a Patient with Isochromosome Xq: A Case Report of a Turner Syndrome Variant.International medical case reports journal · 2025Article
- Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the LiteratureJournal of clinical research in pediatric endocrinology · 2024Review
- Ovotesticular Disorders of sexual development (DSD): A rare case of peritoneal carcinomatosis in an elderly DSD male patient.Gynecologic oncology reports · 2024Article
- Sex Assignment in Cases of Ambiguous Genitalia.Cureus · 2024Review
- Disorders of sexual development: structured radiological reporting and practical approach.Abdominal radiology (New York) · 2024Review
- Acute Lymphoblastic Leukemia Developing in a Patient with 46, XY Pure Gonadal Dysgenesis (Swyer Syndrome) with Malignant Gonadal Germ Cell Tumor: A Case Report and Literature Review.Current oncology (Toronto, Ont.) · 2022Review
- Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype.Scientific reports · 2022Article
- Identification of a novelMolecular medicine reports · 2022Article
- Genetic Implications of Male-Reproductive-Health-Associated Comorbidities.Turkish journal of urology · 2022Article
- Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature.Acta medica Lituanic · 2022Article
- 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
- Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature.Medicine and pharmacy reports · 2022Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual development (DSD) that encompasses a wide spectrum of phenotypes ranging from normally virilized males to slightly undervirilized males, ambiguous phenotype, and normal phenotypic females. It presents specific challenges in diagnostic work-up and management. In XY gonadal dysgenesis, the presence of a Y chromosome or Y-chromosome material renders the patient at increased risk for developing gonadal malignancy. No universally accepted guidelines exist for identifying the risk of developing a malignancy or for determining either the timing or necessity of performing a gonadectomy in patients with XY gonadal dysgenesis. Our goal was to evaluate the literature and develop evidence-based medicine guidelines with respect to the diagnostic work-up and management of patients with XY gonadal dysgenesis. We reviewed the published literature and used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system when appropriate to grade the evidence and to provide recommendations for the diagnostic work-up, malignancy risk stratification, timing or necessity of gonadectomy, role of gonadal biopsy, and ethical considerations for performing a gonadectomy. Individualized health care is needed for patients with XY gonadal dysgenesis, and the decisions regarding gonadectomy should be tailored to each patient based on the underlying diagnosis and risk of malignancy. Our recommendations, based on the evidence available, add an important component to the diagnostic and management armament of physicians who treat patients with these conditions.
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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.