Pseudohypoparathyroidism Type 1a Manifested with Tetany: A Rare Case Scenario

Abstract

Pseudohypoparathyroidism (PHP) is a rare metabolic disorder, characterized by target organ resistance to parathyroid hormone (PTH), affecting PTH mediated calcium homeostasis in the body. This PTH resistance biochemically manifests with hypocalcaemia and hyperphosphataemia in spite of normal or elevated serum PTH level. Here we present a case scenario of PHP type 1a in a young male patient who manifested with painful muscle spasm, numbness and tingling sensations in all four limbs; and had features of Albright’s hereditary osteodystrophy such as round face, short neck, short stature, heterotopic calcifications and skeletal abnormalities (short 4th and 5th fingers). He was emergently managed with intravenous calcium gluconate therapy for hypocalcemic tetany. Later, he was put on high dose oral calcium salt with vitamin D therapy and discharged on stable condition. Keywords: Pseudohypoparathyroidism, PTH Resistance, Albright's Hereditary Osteodystrophy, Hypocalcemic Tetany