Endocrine Abstracts

Introduction: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. Clinical manifestations are widely variable. Treatment is based on supplementation of the various deficiencies and the prognosis is variable.

Case: An 18-year-old female presented with nail dystrophy and candida infection at age 7. Then, she was diagnosed with primary hyporparathyroidism and Addison’s disease at age 9 and 10 subsequently. At age 12, APS was diagnosed. Two years later, primary ovarian insufficiency was diagnosed. The main challenge in her management was maintaining normocalcemia with avoidance of hypercalciuria and nephrocalcinosis. She had several admissions with symptomatic hypocalcemia, (adjusted calcium as low as 1.6 mmol/l) and required intravenous calcium infusions. Despite a high dose of oral calcium (1200 mg three times aday) and vitamin D analogue, normocalcamia was rarely achieved. Therefore, she was started on recombinant human PTH (rPTH). Fluctuations of calcemia unfortunately did not improve, she remained having hypercalacemia (3 mmol/l) as well as severe hypocalcemia (1.64 mmol/l).

In the hope of improving her quality of life, rPTH was delivered by a pump with a rate of 0.3 units/h. Initially she did very well and achieved near normal calcium (1.9–2.2 mmol/l), but recently presented with abdominal pain and vomiting and was found to have adjusted calcium level of 3.03 mmol/l. During admission, calcium fluctuated between 2.4 and 3 mmol/l. It later transpired that the patient was giving herself boluses of PTH to avoid symptoms of hypocalcaemia. After her mother took charge of pump device, calcium normalised at 2.38 mmol/l and she was discharged on rPTH rate 0.25 unit/h with calcium 600 mg twice daily and cholecalciferol 1000 units daily.

Conclusion: Management of hypoparathyroidism remains difficult despite of PTH pump.