Pseudohypoparathyroidism

This code represents a rare genetic disorder characterized by end-organ resistance to parathyroid hormone (PTH), leading to hypocalcemia and hyperphosphatemia despite normal or elevated PTH levels. Patients often present with characteristic physical features such as short stature, brachydactyly, and subcutaneous ossifications.

Use this code when documentation confirms a diagnosis of pseudohypoparathyroidism, indicated by clinical signs of hypocalcemia, elevated PTH, and often associated with Albright's hereditary osteodystrophy. This code is appropriate for both initial diagnosis and ongoing management of the condition.

• Differentiate from true hypoparathyroidism (E20.0), where PTH levels are low or absent.
• Look for documentation of resistance to exogenous PTH in diagnostic testing.
• Consider sequencing with codes for associated conditions like intellectual disability or obesity if present and documented.