ArticleAnnals of pediatric endocrinology & metabolism2026
Long-term outcomes in 45,X/46,XY mosaicism: a 30-year retrospective study in Hong Kong.
Article in Annals of pediatric endocrinology & metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Beyond genital phenotype - Commentary on "Long-term outcomes in 45,X/46,XY mosaicism: a 30-year retrospective study in Hong Kong".Annals of pediatric endocrinology & metabolism · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose45,X/46,XY mosaicism is a rare subset of sex chromosome abnormalities within the spectrum of differences of sex development. This study aimed to evaluate the long-term outcomes in a group of individuals with 45,X/46,XY mosaicism over a 30-year period.
methodsA retrospective review was performed including 68 patients diagnosed from January 1990 to December 2023 at a tertiary unit. Cytogenetic analysis, patient demographics and various health outcomes were examined.
resultsThirty-five patients were raised as females and 33 were raised as males. Fifteen patients were found to have 45,X/46,XY mosaicism prenatally. The prevalence of gonadal tumor was 17.6% among phenotypic females and 38.5% in males with abnormal genitalia, whereas no tumors were detected in males with normal genitalia. The mean external genitalia score was significantly lower in males with gonadal tumors compared to those without (6.6 vs 10.4, P=0.002). For females, while most gonadal tumors were identified in those who had gonadectomy at pubertal age (5 of 6, 83.3%), gonadal tumors were also detected in very young children (1.3 years old). There was no significant improvement in height in those treated with growth hormone therapy and final adult height remained suboptimal (overall final adult height z-score -2.6±1.2). Adherence to surveillance for associated systemic comorbidities was inconsistent.
conclusionGonadal tumor risk is higher in less masculinized males, while females may develop tumors across a wide age range. The long-term efficacy of growth hormone therapy in these patients remains unclear. Our findings emphasized the need for individualized surveillance in this population.
Indexed as
Identifiers
What Socratic 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 Socratic graph.