Hypospadias in Three Generations: Is There a Dominant Responsible Gene for Hypospadias?
Bibliographic record
Abstract
Hypospadias can be defined as a incomplete development of the urethra. Most hypospadias cases show spontaneous occurrence and have no clear cause because the genetic pathways of external genitalia formation are poorly understood. Familial tendency is associated with hypospadias. The brother of an affected boy may also have hypospadias, and this rate is approximately 9-17%. In this case report, we present three hypospadias cases with the same localization that have prolonged to three generations including grandfather, father and three sons. They were applied by their father for circumcision. The socio-economic status of the father was the main reason for the delay of elder brothers’ circumcision. We revealed midshaft hypospadias without chordee in three brothers at physical examination. The father also told us he had the same disorder and our physical examination of the father supported hypospadias. Also according to the history taken from father, the grandfather had also hypospadias probably at the same localization. We performed tubularized incised urethral plate to these cases. In the light of these cases, we have thought that there should be a dominant gene responsible for formation of hypospadias. J Med Cases. 2014;5(3):152-154 doi: http://dx.doi.org/10.14740/jmc1670w
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 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".