Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
ORPHA:2239· ICD-10 E20.8
Definition
A rare genetic endocrine disease characterized by severe hypocalcemia, seizures, hyperphosphatemia, and impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands (not affecting other endocrine glands). Complications include psychomotor and growth delay, delayed dentition, and cataracts.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal