Endocrine Abstracts

Pseudohypoparathyroidism (PHP) is a group of rare hereditary diseases caused by tissue resistance to parathyroid hormone (PTH), there are two main types I and II. Type I is divided into subtypes. The authors present a case of PHP Ib, with hypocalcemia (level of total calcium 1.41 mmol/l), accidentally detected at childbirth. After the unsuccessful treatment of hypocalcemia, the etiology was considered, but the confirmation of the diagnosis were not adequately tightened. Due to the subjective feeling of palpitations and tremors, she was also examined by a psychiatrist and antipsychotic treatment was started. The level of ionized calcium at the time of treatment initiation was 0.98 (1.03-1.30 mmol/l), total calcium 1.95 (2.18-2.60 mmol/l), parathyroid hormone level was 52.343 (10.5-7.632 pmol/l), the level of phosphorus was 1.360 (0.65-1.61 mmol/l) and the level of vitamin D3 (25-OH) was 33.460 (75-250 nmol/l). Years later, PHP Ib has been genetically proved. By adjusting the proper treatment, including the administration of calcitriol 0.25 ug twice a day, calcium carbonate 1500 mg once a day and chronic treatment, the difficulties subsided. Control level of ionized calcium was 1.16 mmol/l, total calcium was 2.34 mmol/l, and the parathormone level was adjusted to normal 15.762 pmol/l. The effect of PTH on bone was reduced, which is expected to improve the prognosis to the level of the population.

Keywords: hyperphosphatemia, hypocalcemia, parathyroid hormone, pseudohypoparathyroidism.