Endocrine Abstracts

Background: Pseudohypoparathyroidism includes a genotypically diverse group of syndromes of primary resistance to hormones whose actions are mediated by cyclic adenosine 3’: 5’-monophosphate, in most cases caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3.Renal resistance to PTH leads to impaired formation of 1,25(OH)2D, the fully active form of vitamin D, and reduces expression of sodium-dependent phosphate transporters in the renal tubules, leading to hypocalcemia and hyperphosphatemia, with elevated serum PTH levels.Patients with PTHT clinically manifest with tetany seizures, soft tissue calcifications and many congenital malformations.Early diagnosis and vitamin D3 or calcium treatment seem to be the most important for patient’s condition.

Case: We describe a case of possible sporadic pseudohypoparathyroidism type II, confirmed hashimoto thyroiditis, iron deficiency anemia, chronic erosive gastritis. 28 year old Caucasian female visited our clinic with complaints of frequent hospitalizations due to seizures and tetany since December 11, 2021. Patient was hospitalized at least 4 times and required Ca infusions. Patient complained of mild, intermittent and self-limited paresthesias, persistent asthenia, tachycardia, arrhythmia since early years. She had been diagnosed at the age of 6 with hypocalcemia and possible pseudohypaparathyroidism, but diagnosis was not verified by genetic test. Initial lab investigation showed elevated PTH- 334.3 (15-65) pg/ml, hypocalcemia (iCa-0.73 (1.15-1.29) mmol/l) hyperphosphatemia (P-2.03 (N0.81-1.45) mmol/l), hypocalciuria (<0,2 mmol/l (N2,5-7,5), decreased bone mineral density on Dexa Scan - T score L2=-2.4. Combined calcium and calcitriol supplementation was commenced, with symptomatic and laboratory improvement. Couple days after initiating Ca supplements and calcitriol, we achieved laboratory and clinical improvement (Ca-1.93 (2.15-2.5) mmol/l, p-1.85 (0.81-1.45) mmol/l (18.01.2022), Mg- 0.65 mmol/l (0.6-1.07)).Molecular identification is ordered and will be presented.

Conclusion: With initiated treatment, we hope for complete resolution of patient’s complaints and attaining symptomatic remission. A careful follow-up is needed to avoid complications and recurrence. Once correction of hypocalcemia and hyperphosphatemia is achieved, with no reported complications and recurrence, a good prognosis is anticipated, comparable to the general population.