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Pseudohypoparathyroidism Type Ia with Normocalcemia

Authors :
İlker Tolga Özgen
Esra Kutlu
Gozde Yesil
Yaşar Cesur
CESUR, Yaşar
Source :
Bezmiâlem Science, Vol 7, Iss 2, Pp 170-173 (2019)
Publication Year :
2019
Publisher :
Galenos Publishing House, 2019.

Abstract

Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms and additional hormonal resistance can be observed in type Ia, which is also known as Albright hereditary osteodystrophy. Our patient was an eight-year and nine-month old girl with typical Albright-s hereditary osteodystrophy phenotype including short stature, obesity, round face, low nasal bridge, shortened metacarpals, and mild mental retardation. In her biochemical examination, high PTH level and hypothyroidism is detected in spite of normal calcium and phosphor levels. As a result of clinic and laboratory tests, the findings were consistent with PHP type Ia with normocalcemia. In her guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 (GNAS 1) gene serial analysis, C-308T>C (p1103T) transformation was detected, which was previously reported in a PHP type Ia patient. In this report, we-ve aimed to emphasize the fact that calcium and phosphor level in the blood of the patient with PHP type Ia can be measured normal.

Details

Language :
English
ISSN :
21482373
Volume :
7
Issue :
2
Database :
OpenAIRE
Journal :
Bezmiâlem Science
Accession number :
edsair.doi.dedup.....86cafb1faa869cecbc12e61d60850942