Familial isolated hypoparathyroidism due to impaired PTH secretion
ORPHA:189466· ICD-10 E20.8
Definition
A rare genetic endocrine disease characterized by impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands not causing other endocrine or developmental disturbances. Complications include impaired renal function, psychomotor and growth delay, delayed dentition, and cataracts.
- Inheritance
- Autosomal dominant, Autosomal recessive