Сімейний ізольований гіпопаратиреоз внаслідок порушення секреції ПТГ
ORPHA:189466· ICD-10 E20.8· Familial isolated hypoparathyroidism due to impaired PTH secretion
Визначення(English summary)
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.
- Успадкування
- Autosomal dominant, Autosomal recessive