학술논문

A rare cause of hypocalcemia: Pseudohypoparathyroidism
Document Type
article
Source
Cukurova Medical Journal, Vol 47, Iss 1, Pp 463-465 (2022)
Subject
albright herediter osteodistrofisi
hipokalsemi
parathormon direnci
albright’s hereditary osteodystrophy
hypocalcemia
parathormone resistance
Medicine (General)
R5-920
Language
English
Turkish
ISSN
2602-3040
Abstract
Pseudohypoparathyroidism is a rare inherited metabolic disorder that associated with parathormone resistance. Low serum calcium, high phosphates and raised parathormone levels suggesting parathormone resistance are biochemical characteristic features of disorder . Pseudohypoparathyroidism type 1 is known as Albright’s hereditary osteodystrophy that characterized by a typical phenotype. This syndrome encompasses multiple clinical findings such as brachydactyly, rounded face, short stature, central obesity, and variable degrees of mental retardation. Here, we present a patient with pseudohypoparathyroidism which is rare cause of hypocalcemia and parathormone resistance .