Comparison of Adolescents with Klinefelter Syndrome according to the Circumstances of Diagnosis: Amniocentesis versus Clinical Signs
Bibliographic record
Abstract
AIMS: We compared the phenotype of adolescents with Klinefelter syndrome diagnosed by amniocentesis or postnatally to the general population with a view to evidence-based genetic counselling. METHODS: The charts of 28 patients seen between ages 12 and 18 years were reviewed. Physical and neurodevelopmental data were compared between patients diagnosed by chance (amniocentesis, group A, n = 11) or on the basis of symptoms (group B, n = 17) and the general population. Our hypothesis was that group A would have a more heterogeneous and less severe phenotype than group B. RESULTS: All patients had spontaneous puberty. The 2 patient groups were similar in physical development. Mean testosteronemia became lower than the normal mean from age 14 years. Compared to the general population, the prevalence of gynecomastia and school delay in group A was not significantly different (gynecomastia 33 vs. 40%, p = 0.70; school delay 40 vs. 20%, p = 0.25). In contrast, gynecomastia (77%) and school delay (56%) were significantly more frequent in group B than in the general population (p = 0.01 for both). CONCLUSIONS: Although they are based on a small number of patients, our data provide the groundwork for cautious optimism in prenatal counselling for Klinefelter syndrome.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.006 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".