Unrecognized Pseudopseudohypoparathyroidism in a Case of Post-Traumatic Brain Injury with Multiple Pituitary Hormone Deficiency: A Rare Coincidence

Introduction Pseudopseudohypoparathyroidism is an inherited disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but with no evidence of resistance to parathyroid hormone, along with normal levels of calcium and parathyroid hormone. Pseudopseudohypoparathyroidism is a rare clinical entity of autosomal dominant inheritance, which shows phenotypic similarity to pseudohypoparathyroidism. However, the main difference lies in their biochemical profiles. The former disease is characterized by normal serum calcium, phosphorus, vitamin D, and parathyroid hormone (PTH) level, whereas the latter shows features suggestive of PTH resistance. Our patient presented after post blunt trauma of head with diabetes insipidus and short stature. Investigations revealed multiple pituitary hormone deficiency. Further examination was conducted for pseudohypoparathyroidism, keeping in mind short metacarpals, knuckle knuckle dimple dimple sign, and short stature, but normal calcium, phosphorus, vitamin D and PTH value led to the diagnosis of pseudopseudohypoparathyroidism. GNAS mutation analysis is necessary to confirm the diagnosis, which could not be performed in this patient due to the high cost. This case shows that pseudopseudohypoparathyroidism, although a rare disease, should be appropriately investigated in such patients if they present with peculiar skeletal features of pseudohypoparathyroidism.