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Псевдогіпопаратиреоз, тип 1B

ORPHA:94089· ICD-10 E20.1· Pseudohypoparathyroidism type 1B

Визначення(English summary)

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

Поширеність
Unknown
Успадкування
Autosomal dominant, Not applicable
Вік початку
Adolescent, Childhood, Infancy, Neonatal