From the Research
Pseudohypoparathyroidism should be managed with a coordinated and multidisciplinary approach, focusing on early recognition, genetic diagnosis, and tailored treatment to improve patient outcomes, as recommended by the most recent and highest quality study 1. The condition is characterized by resistance to parathyroid hormone (PTH) in target tissues, primarily the kidneys, leading to hypocalcemia, hyperphosphatemia, and normal or high PTH levels.
- Patients typically present with a range of symptoms, including hypocalcemia, hyperphosphatemia, and normal or high PTH levels.
- The disorder has several subtypes, with type 1a being the most common and featuring additional characteristics called Albright hereditary osteodystrophy (short stature, round face, shortened metacarpals, and developmental delays).
- Treatment focuses on managing calcium levels through oral calcium supplements and active vitamin D analogs, with regular monitoring of serum calcium, phosphorus, and urinary calcium to prevent complications like hypercalciuria, as suggested by 2 and 3.
- Genetic testing plays a critical role in distinguishing pseudohypoparathyroidism from other conditions, enabling precise diagnosis even when classical features are not initially present, as highlighted by 1.
- A life-long coordinated and multidisciplinary approach is recommended, starting as far as possible in early infancy and continuing throughout adulthood with an appropriate and timely transition from pediatric to adult care, as outlined by 4 and 3.