ArticleJournal of pediatric urology2013
Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.
Article in Journal of pediatric urology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 65 citations in OpenAlex.
- Article
- Case Report: Mixed gonadal dysgenesis with Müllerian remnants mimicking a prostatic utricle in a child with 45,X/46,XY/47,XYY mosaicism.Frontiers in pediatrics · 2026Article
- Mixed gonadal dysgenesis with gonadoblastoma diagnosed by prophylactic laparoscopic gonadectomy: A case report.Experimental and therapeutic medicine · 2024Article
- A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism.Cureus · 2023Article
- A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD).Journal of the Endocrine Society · 2022Article
- Cohort profile: pathways to care among people with disorders of sex development (DSD).BMJ open · 2022Article
- Clinical and Reproductive Characteristics of Patients with Mixed Gonadal Dysgenesis (45,X/46, XY).Journal of obstetrics and gynaecology of India · 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
- Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents.Seminars in pediatric surgery · 2019Review
- Losing maleness: Somatic Y chromosome loss at every stage of a man's life.FASEB bioAdvances · 2019Article
- Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism.BMC pediatrics · 2019Article
- Concepts and Updates in the Evaluation and Diagnosis of Common Disorders of Sexual Development.Current urology reports · 2015Review
- Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype.Journal of clinical research in pediatric endocrinology · 2015Article
- State of the art review in gonadal dysgenesis: challenges in diagnosis and management.International journal of pediatric endocrinology · 2014Article
- Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.BMC medical genetics · 2013Article
- 45,X mosaicism in northeast China: a clinical report and review of the literature.Journal of assisted reproduction and genetics · 2013Article
- A Clinical Approach to Diagnosis of Ambiguous Genitalia.Journal of Indian Association of Pediatric SurgeonsReview
- THE RARE CASE OF MIXED GONADAL DYSGENESIS, MOSAIC KARYOTYPE, PETROCLIVAL MENINGIOMA AND IDIOPATHIC HYPERDEHYDROEPIANDROSTERONISM.Acta endocrinologica (Bucharest, Romania : 2005)Article
- Mosaic Turner Variant Adult Female Presenting with XO/XY Karyotype.Journal of human reproductive sciencesArticle
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveThe 45,X/46,XY and 45,X/47,XYY group of patients includes some of those previously diagnosed with 'mixed gonadal dysgenesis'. Our aim was to establish the clinical and gonadal spectrum, and early surgical management, of patients with chromosomal mosaicism presenting with genital anomalies. PATIENTS AND
methodsWe performed a retrospective review of patients with 45,X/46,XY or 45,X/47,XYY mosaicism presenting with genital ambiguity between 1988 and 2009. At least one gonadal biopsy or gonadectomy specimen was available for each patient. Gonadal histology was re-evaluated by a paediatric pathologist.
resultsOf 31 patients with 45,X/46,XY (n = 28) or 45,X/47,XYY (n = 3) mosaicism and genital anomalies, 19 (61%) were raised male. Histology of 46 gonads was available from patients who had undergone a gonadectomy or gonadal biopsy, at a median age of 9.5 months. 18 gonads were palpable at presentation, including 5 (28%) histologically unremarkable testes, 2 streak gonads, and 1 dysgenetic gonad with distinct areas of testicular and ovarian stroma but no oocytes. All intra-abdominal gonads were found to be dysgenetic testes (of which 2 were noted to have pre-malignant changes) or streaks, apart from 1 histologically unremarkable testis. 15 (48%) patients had other anomalies, most commonly cardiac and renal; 4 (13%) had a Turner phenotype.
conclusionThe anatomy and gonadal histology of 45,X/46,XY and 45,X/47,XYY individuals with genital ambiguity do not conform to a set pattern, and hence management of each patient should be individualized according to detailed anatomical and histological assessment.
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