A difficult and complicated case study: Pseudohypoparathyroidism in childr

Abstract:

Pseudohypoparathyroidism is a rare genetic disease. Its features consist of biochemical disturbances - hypocalcemia, hyperphosphoremia and hyperparathyroidiemia and lack of response to the parathormone of target organs. The patients usually manifest tetany seizures and parathyroid gland hypertrophy accompanied by hereditary osteodystrophy. There is no specific therapy for this disorder. The treatment with calcium and active form of vitamin D is effective for preventing acute attacks and limiting the irreversible changes. Thyroxine substitutive therapy is needed when hypothyroidism occurs with pseudohypoparathyroidism.