ArticleBMC pediatrics2019
Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism.
Article in BMC pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
6 citing papers in PubMed, 20 citations in OpenAlex.
- A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.Reports (MDPI) · 2025Article
- Clinical and hormonal characteristics and growth data of 45,X/46,XY mosaicism in 38 Chinese patients.Frontiers in pediatrics · 2023Article
- 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
- Clinical and Reproductive Characteristics of Patients with Mixed Gonadal Dysgenesis (45,X/46, XY).Journal of obstetrics and gynaecology of India · 2021Article
- Multidisciplinary Approach to the Child with Sex Chromosomal Mosaicism Including a Y-Containing Cell Line.International journal of environmental research and public health · 2021Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who presented to a single centre in China.
methodsWe conducted a retrospective review of the records of 32 patients with 45,X/46,XY mosaicism or variants who were hospitalized from August 2005 to September 2018. The main outcomes measured were growth data, genital phenotype, gonadal function, gonadal position, and histological results.
resultsA total of 32 patients were included. The age at diagnosis ranged from 0.6 to 16.3 years. Nineteen patients exhibited ambiguous genitalia, 12 had short stature, and 1 showed a lack of breast development. Seventeen patients were raised as males, and 15 were raised as females. The external masculinisation score (EMS) of patients raised as male was 4.5 (1~12) [median (range)]. The EMS of the females was 0 (0~1.5) [median (range)]. Patients showed normal heights under 2 years old, with a height SDS of 0 (- 1.5~1.4) [median (range)]. Growth appeared to decelerate after age 2 years, with SDS decreased to - 2.8 (- 3.0~ - 0.9) [median (range)]. The percentage of short stature was higher in females than in males (76.9% vs 50.0%). Twenty-five patients had gonadal pathological results. Complete gonadal dysgenesis (CGD) and mixed gonadal dysgenesis (MGD) were the most common pathogenic subtypes, accounting for 48.0 and 36.0%, respectively. Ovotesticular tissue was observed in only 4.0% of patients. Gonadoblastoma and positive OCT3/4 results were found in 18.8% of gonads in children over 2 years of age. Palpable gonads accounted for 50% of these. All patients who had gonadoblastoma were raised as females.
conclusionsPatients with 45,X/46,XY might have normal heights until 2 years old. Growth decelerations after 2 years of age were common. Patients who are being raised as females seemed to be shorter than males. CGD and MGD were the most common gonadal pathogenic subtypes. The tumour risk is high in these patients, even in palpable gonads and female patients.
Indexed as
Identifiers
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.