Novel Variant of the Desert Hedgehog Gene in an Indian Patient of 46, XY Gonadal Dysgenesis with Peripheral Neuropathy
Bibliographic record
Abstract
46, XY gonadal dysgenesis (GD) is rare form of sex development disorder. There have been five cases reported with 46, XY GD and mutation in Desert Hedge Hog (DHH) gene with peripheral neuropathy. To report first Indian case with 46, XY GD and severe peripheral neuropathy with a novel missense mutation in DHH gene. This is retrospective study and genetics done by clinical exome sequencing. We report a patient with primary amenorrhea and severe motor and sensory neuropathy with Charcot's joints. She presented at 30 years of age, with 15-year history of complete loss of temperature sensation and inadvertent injuries requiring amputations of toes along with distal weakness and atrophy. Ultrasound pelvis showed rudimentary structure in pelvis and absent uterus. X-ray foot showed Charcot joints. Similar neuropathy features were noted in her father and sister who also had absent uterus and ovaries. Clinical exome sequencing showed novel missense pathogenic variant (P. Ser185Pro) in exon 2 of DHH gene. This is the first case of 46, XY GD reported from India, with peripheral neuropathy and mutation in DHH gene.
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How this classification was reachedexpand
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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".