SAT-739 Case Report: Autosomal Dominant Hypocalcemia Type 2 In A 43-year-old Male Presenting At A Tertiary Canadian Medical Center
Bibliographic record
Abstract
Abstract Disclosure: M.H. Alabdely: None. A.A. Khan: None. Background: Autosomal dominant hypocalcemia (ADH) type 1 and type 2 are rare disorders caused by gain-of-function variants that activate the calcium sensing receptor (CASR) gene, leading to ADH type 1, or its signaling protein Guanine nucleotide-binding protein subunit alpha-11 (GNA11), resulting in ADH type 2. These disorders are inherited in an autosomal dominant pattern and are characterized by hypoparathyroidism, manifesting as hypocalcemia, inappropriately low serum parathyroid hormone (PTH) concentrations and hypercalciuria due to enhanced sensitivity of the CaSR to extracellular calcium concentrations. Clinical features range from asymptomatic to severe. Treatment with calcium and active vitamin D can exacerbate hypercalciuria and nephrocalcinosis. Alternative treatment options that have been used in patients with ADH1 include recombinant human PTH or calcilytic therapy. Here, we describe a male patient with ADH2 harboring a novel GNA11 variant, evaluated at our tertiary center in Canada.Case summary:A 43-year-old male experienced intermittent numbness in hands for 3 years prior to presentation; in association with exercise. Other manifestations include bronchospasm and laryngospasm triggered by wrestling or climbing 2-3 flights of stairs, over the past 15 years. He had no peri oral numbness, muscle spasm, seizures, arrhythmias, brain fog, kidney stones, fractures or osteoporosis. Additionally, he had no clinical features features suggestive of genetic or autoimmune disorders resulting in hypoparathyroidism. There was no history of neck surgery or a family history of endocrine or autoimmune disease. In April 2024, he was incidentally found to have low calcium levels. By July 2024, he was found to have low PTH levels as well as persistently low calcium levels. Medical examination was unremarkable and Chvostek’s sign was negative. Laboratory tests revealed low corrected calcium (1.98 mmol/L, NR: 2.15-2.60), and low or inappropriately normal PTH (2.2 pmol/L, NR:1.6-9.3) on two occasions. The serum phosphorus was (1.03 mmol/L, NR: 0.81-1.45), serum magnesium (0.88 mmol/L, NR: 0.65-1.05), 25OHD (83 nmol/L, NR: 75-250), ALP (56 IU/L, NR: 30-129) and 24 hr urine for calcium collection was inadequate.Genetic testing confirmed a heterozygous variant of uncertain significance (VUS) in GNA11 gene c.1-12C>T pArg338Cys which has not been previously reported. The clinical picture is consistent with ADH2. The patient was started on calcium carbonate 500 mg three times daily with meals with follow up in 4 weeks. Conclusion: We report a male patient with hypoparathyroidism who was found to have a novel VUS in GNA 11 gene. This variant could be pathogenic, as the patient presents with a phenotype consistent with ADH2. To date, six different gain-of-function variants in the GNA11 have been identified. An important contribution to the Literature is identifying several variants in ADH2. Presentation: Saturday, July 12, 2025
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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 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.003 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.002 |
| 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".