ReviewMolecular genetics & genomic medicine2019
Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature.
Review in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Karyotype-based evaluation of ovarian reserve before ovarian tissue cryopreservation in Turner syndrome patients.Journal of ovarian research · 2026Article
- Turner Syndrome With 45,X/46,XX Mosaicism and a Derivative X Chromosome (Xqter → Xq13?::Xp11.4 → Xqter): A Case Report.Clinical case reports · 2025Article
- Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.American journal of medical genetics. Part A · 2024Article
- Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX.Endocrine connections · 2023Review
- Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature ReviewJournal of clinical research in pediatric endocrinology · 2023Article
- Genetic conditions of short stature: A review of three classic examples.Frontiers in endocrinology · 2022Review
- Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature.Molecular genetics & genomic medicine · 2019Review
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTurner syndrome (TS) is a common chromosomal disorder affecting approximately 1:2,500 live female births. Mosaic 47,XXX karyotype is found in 3%-4% of TS patients. TS phenotype in rare 45,X/47,XXX mosaicism patients is milder than in classic TS, however their ovarian function, especially in the mature age, has not been described in detail.
methodsA case report and literature review.
resultsA 30-year-old woman with menstrual irregularity and primary infertility presented with short stature and multiple nevi on the face without other common TS clinical features. She had spontaneous puberty and menarche but diminished ovarian reserve at the age of 30. Fluorescence in situ hybridization (FISH) indicated 45,X/47,XXX mosaicism, which was once misdiagnosed as 45,X monosomy. Literature review revealed the prevalence of short stature in only 64.3% of 45,X/47,XXX mosaicism cases, that is, much less frequently than in pure 45,X monosomy. The risk of premature ovarian insufficiency in 45,X/47,XXX mosaicism patients is higher, and ovarian failure is usually observed at around 30 years of age.
conclusionFISH should be recommended to evaluate low proportion mosaicism in similar cases. Due to the risk of ovarian failure, fertility preservation for patients with 45,X/47,XXX mosaicism at a younger age must be considered.
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