A Case of Primary Pseudohypoparathyroidism Presenting with Normal Serum Phosphorus
Bibliographic record
Abstract
Introduction: Pseudohypoparathyroidism (PHP) is a very rare genetic disorder characterized by hypocalcemia/hyperphosphatemia secondary to parathyroid hormone (PTH), target organ resistance. PHP is a congenital disorder that is diagnosed in childhood. This is a unique presentation of a rare condition that was initially diagnosed in adulthood. Case Description: We present a unique case of a 37-year-old woman who was referred for a second opinion before undergoing parathyroidectomy for a positive nuclear scan with an elevated intact parathyroid hormone (iPTH). She had a history of hypocalcemia beginning in her 30s with no family history for the same. Physical exam revealed short stature but no brachydactyly or intellectual disability. Initial findings showed a corrected serum calcium level was 8.3, iPTH 214, vitamin D 44, phosphate 3.6, magnesium 2.1, bicarbonate 25, and creatinine 0.9 and was placed on calcium supplementation and calcitriol. The urinary Fractional excretion of calcium was elevated and her bone density scan was normal. She was treated with a thiazide diuretic and an increase in the calcitriol dose which led to a corrected serum calcium 9.1 and iPTH 93. She did not undergo parathyroidectomy and we can conclude she likely has pseudohypoparathyroidism 1a or 1c. Discussion: To our knowledge, this is one of the first reported cases of PHP diagnosed with normal serum phosphorus levels. The current literature review does not examine patients that have PHP despite having normal serum phosphorus levels. The goal of this case report was to increase awareness and education that PHP can be diagnosed later in life due to its varying phenotypic penetrance. Future studies can examine a larger cohort of patients that present with similar symptoms to determine the genetic cause. Above all, it is essential to provide knowledge to patients as well as physicians alike.
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.003 | 0.002 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.006 | 0.004 |
| Insufficient payload (model declined to judge) | 0.005 | 0.001 |
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".