Cytogenetic Investigations in 1843 Referral Cases of Disordered Sexual Development From Andhra Pradesh, India
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Bibliographic record
Abstract
Chromosomes play an important role in the etiology of disorders associated with sexual development. A referral case study has been undertaken to know the role of chromosomes in the etiology of these disorders and to establish their frequency. A total of 1843 subjects presenting symptoms of abnormal sexual development referred to Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad for cytogenetic confirmation and advice over a period of 20 years (January 1979 to January 1999) formed the subjects for the study. Of the 1843 cases suspected for sex chromosome anomalies, 386 (20.95%) showed abnormal karyotypes. Among these abnormalities, Klinefelter karyotypes were found in 2.88% of the cases and Turnerian karyotypes in 4.12% of the cases. The subjects presenting primary amenorrhea and secondary amenorrhoea had abnormal karyotypes in 11.01% and 0.82% of the cases respectively. In individuals presenting sexual ambiguity abnormal karyotypes were identified in 2.12% of the cases .Chromosome abnormalities accounted significantly for the etiology of aberrant sexual development. It is apparent from the study that cases with history of amenorrhoea, infertility and sexual ambiguity need to undergo cytogenetic evaluation as a mandatory routine. Precise diagnosis of these cases has greatly helped for proper management, surgical intervention and counseling the affected.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| 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) | 0.000 | 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 it