Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus
Bibliographic record
Abstract
Trisomy 22 syndrome manifestations include cranial and facial anomalies. Ambiguous genitalia have been described in some fetus, but histological examination of the gonads has been rarely provided. We report here the first case of a male pseudohermaphrodite fetus with non-mosaic full trisomy 22 in amniocytes and presenting with ambiguous external genitalia, testes, and a uterus. In this case, we have further analyzed cytogenetically gonadal and uterine tissues. FISH analyses on paraffin-embedded gonads and uterus indicated the presence of two cell lines: XY and monosomy X, with 22%-50% of uterine cells having monosomy X, while 85%-100% of right and 77%-96% of left testicular cells were XY. The distribution of sex chromosomes observed in these tissues could explain the sexual differentiation observed in this fetus. On the other hand, this phenotype could also have resulted from cryptic anomalies in one or several genes implicated in sexual differentiation. Further evidence is thus needed before identifying the true cause of pseudohermaphroditism in our patient.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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".