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4th April 2024
A 27-year-old female, originally from Sardinia, presents to the emergency department complaining of perioral paraesthesia, muscular spasms, irritability, and fatigue.
A 27-year-old female, originally from Sardinia, presents to the emergency department complaining of perioral paraesthesia, muscular spasms, irritability, and fatigue. She has the following blood tests taken:
| Result | Reference Range | |
|---|---|---|
| Hb | 116 g/L | 115-160 g/L |
| MCV | 84 fl | 82-100 fl |
| WCC | 4.3 x 10⁹/L | 4.0-11.0 x 10⁹/L |
| AdjCa | 1.71 mmol/L | 2.1-2.6 mmGenetic conditions affecting parathyroid glands ol/L |
| Phosphate | 1.45 mmol/L | 0.8-1.4 mmol/L |
| PTH | 0.2 pmol/L | 0.9-5.4 pmol/L |
| HbA1c | 34 mmol/mol | <48 mmol/mol |
You note the presence of bronzing in the palmar folds and on the buccal mucosa.
Her current medications include 10mg/5mg/5mg hydrocortisone and 100mcg fludrocortisone. She has recently had two courses of oral nystatin from her GP. You suspect type 1 autoimmune polyendocrinopathy syndrome. What is the mode of inheritance?
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