Pseudohypoparathyroidism is a condition with increased secretion of parathormone (PTH) is there but due to end organ resistance, there is no response to PTH hormone resulting in clinical features of hypoparathyroidism. This is a hereditary disorder with distinctive skeletal and developmental defects. These patients have elevated levels of serum PTH.
The common features are :
- Short height with stocky built.
- Round face with short neck.
- Mental retardation.
- Epileptic convulsions.
- Short 4th and 5th metacarpals and metatarsals.
- Basal ganglia calcification.
