hrp0097p1-137 | Multisystem Endocrine Disorders | ESPE2023

Hypercalcitoninaemia in girl with pseudohypoparathyroidism type 1A.

Pankratova Maria , Pisareva Elena , Lyadova Olga , Chugunov Igor , Volevodz Nataliya , Bezlepkina Olga , Peterkova Valentina

Background: Pseudohypoparathypoidism (PHP) type 1A is a rare endocrine disorders caused by GNAS mutation. Patients phenotype with PHP type 1A include obesity, round facies, brachydactyly, subcutaneous ossifications, short stature. The resistance of action of parathyroid hormone (PTH) leads to hyperphosphatemia, hypocalcaemia and secondary hyperparathyroidism. Hypercalcitoninaemia has been described in limited patients with PHP without thyroid patholog...