ReviewSeminars in pediatric surgery2019
Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents.
Review in Seminars in pediatric surgery, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed, 43 citations in OpenAlex.
- A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y).Clinical and experimental reproductive medicine · 2026Article
- Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches.Clinical endocrinology · 2026Review
- <italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.Reports (MDPI) · 2025Article
- Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center.Children (Basel, Switzerland) · 2025Article
- 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
- Sex Assignment in Cases of Ambiguous Genitalia.Cureus · 2024Review
- Single-Center Experience in Patients with Mixed Gonadal Dysgenesis.Turkish archives of pediatrics · 2024Article
- Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report.Experimental and therapeutic medicine · 2024Article
- Novel Approaches to Patients with Differences of Sex Development.Advances in pediatrics · 2024Review
- A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism.Cureus · 2023Article
- Genetic control of typical and atypical sex development.Nature reviews. Urology · 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
- Serum LH/FSH ratios in 87 infants with differences of sex development.Endocrine connections · 2023Review
- Application of the prenatal BACs-on-Beads™ assay for rapid prenatal detection of sex chromosome mosaicism.Molecular genetics and genomics : MGG · 2022Article
- Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risksSystems biology in reproductive medicine · 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
- The ethics of offering fertility preservation to pediatric patients: A case-based discussion of barriers for clinicians to consider.Seminars in pediatric surgery · 2021Article
- Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype.American journal of medical genetics. Part A · 2021Article
- Disorders of Sex Development: Classification, Review, and Impact on Fertility.Journal of clinical medicine · 2020Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Individuals born on the spectrum of genetic abnormalities known as mixed gonadal dysgenesis (MGD) have a wide range of anatomical findings and management can be challenging in the newborn and adolescent. Historically, many individuals with MGD have undergone gonadectomy to avert the risk of gonadal malignancy. However, gonadectomy deprives patients of the benefits of their endogenous hormones, potential fertility, and in the case with MGD, has historically been done prior to addressing gender identity. Some patient advocates have proposed a delayed approach to surgical reconstructions and/or gonadectomy in other differences/disorders of sex development (DSD), particularly in patients with congenital adrenal hyperplasia and androgen insensitivity syndrome. In many areas of the world, there continues to be a shift toward delayed reconstructions and hesitancy regarding irreversible gonadectomy. To date, no clinical management protocol addressing these issues from a patient-centered approach has been described. We review what is known about malignancy risk and propose a management protocol for those with MGD that involves shared decision making regarding the gonads and addresses the long-term challenges with regard to gender and anatomy.
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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.