An interesting case of primary hypoparathyroidism

Area of Science:

• Endocrinology
• Genetics
• Nephrology

Background:

• Primary hypoparathyroidism is often caused by activating mutations in the calcium sensing receptor (CaSR).
• Many patients are asymptomatic and diagnosed late in adulthood.
• This condition can lead to severe electrolyte disturbances.

Observation:

• A 38-year-old female presented with chronic muscle cramps, vomiting, abdominal pain, and body aches.
• She exhibited hypovolemia, severe hypocalcemia, hypokalemia, hypomagnesemia, hyperphosphatemia, and metabolic alkalosis.
• Laboratory results showed low 24-hour urinary phosphorus and high urinary excretion of sodium, potassium, and chloride.

Findings:

• Intact parathyroid hormone levels were at the lower end of the normal range.
• The patient improved significantly after correction of biochemical abnormalities.
• Acquired causes of hypoparathyroidism were excluded, suggesting a genetic etiology.

Implications:

• This case highlights the importance of considering primary hypoparathyroidism in adults with unexplained electrolyte imbalances.
• Activating CaSR mutations can present with diverse and severe symptoms.
• Prompt diagnosis and management are essential for patient outcomes.