Endocrine Abstracts

Introduction: Hashimoto thyroiditis is an autoimmune disorder affecting the thyroid gland leading to chronic inflammation and gradual decline of the thyroid gland function eventually requiring hormone replacement. Patients present with classic symptoms and signs of hypothyroidism. The term pseudohypoparathryoidism (PHP) refers to a group of rare genetic and epigenetic disorders characterized by resistance to the action of parathyroid hormone (PTH) that activates cAMP signaling in target cells. In most cases this genotypically diverse group of syndromes are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3. Patients with PTHT clinically manifest with tetany seizures, soft tissue calcifications and many congenital malformations. Association of PHP with autoimmune disorders is rare and seldom reported in the literature.

Case: We describe a case of sporadic pseudohypoparathyroidism, 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 revealed TSH in the upper ranges of normal, normal FT4, FT3 and positive anti TPO titers, elevated PTH, hypocalcemia, hyperphosphatemia, hypocalciuria, decreased bone mineral density on Dexa Scan. 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.

Conclusion: To confirm this presumptive diagnosis, patient’s genomic DNA has to be analyzed. In case of confirmed diagnosis, patients should be monitored annually for calcium, phosphate, PTH and urinary calcium levels, TSH, FT4 and gonadotropin levels. With initiated treatment, we hope for complete resolution of patient’s complaints and attaining symptomatic remission. There are only few cases and at least one study describing possible association of autoimmune thyroiditis and pseudohypoparathyroidism, further studies and research are still required to confirm the link between these gland dysfunctions. A careful follow-up is needed to avoid complications and recurrence. Replacement of deficient gland function should follow.