Pseudohypoparathyroidism Type Ia with Normocalcemia
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...
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2019-04-01
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doaj-716e71b8788e40be863ba7e4f75f80ae2020-11-25T01:30:20ZengGalenos Publishing HouseBezmiâlem Science2148-23732148-23732019-04-017217017310.14235/bas.galenos.2018.220713049054Pseudohypoparathyroidism Type Ia with NormocalcemiaEsra KUTLU0İlker Tolga ÖZGEN1Yaşar CESUR2Gözde YEŞİL3 Bezmialem Vakıf University Faculty of Medicine, Department of Child Endocrinology, İstanbul, Turkey Bezmialem Vakıf University Faculty of Medicine, Department of Child Endocrinology, İstanbul, Turkey Bezmialem Vakıf University Faculty of Medicine, Department of Child Endocrinology and Metabolism, İstanbul, Turkey Bezmialem Vakıf University Faculty of Medicine, Deparment of Medical Genetics, İstanbul,Turkey 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. http://bezmialemscience.org/archives/archive-detail/article-preview/pseudohypoparathyroidism-type-a-with-normocalcemia/20592 Pseudohypoparathyroidismalbright hereditary osteodystrophynormocalcemiashort stature |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Esra KUTLU İlker Tolga ÖZGEN Yaşar CESUR Gözde YEŞİL |
spellingShingle |
Esra KUTLU İlker Tolga ÖZGEN Yaşar CESUR Gözde YEŞİL Pseudohypoparathyroidism Type Ia with Normocalcemia Bezmiâlem Science Pseudohypoparathyroidism albright hereditary osteodystrophy normocalcemia short stature |
author_facet |
Esra KUTLU İlker Tolga ÖZGEN Yaşar CESUR Gözde YEŞİL |
author_sort |
Esra KUTLU |
title |
Pseudohypoparathyroidism Type Ia with Normocalcemia |
title_short |
Pseudohypoparathyroidism Type Ia with Normocalcemia |
title_full |
Pseudohypoparathyroidism Type Ia with Normocalcemia |
title_fullStr |
Pseudohypoparathyroidism Type Ia with Normocalcemia |
title_full_unstemmed |
Pseudohypoparathyroidism Type Ia with Normocalcemia |
title_sort |
pseudohypoparathyroidism type ia with normocalcemia |
publisher |
Galenos Publishing House |
series |
Bezmiâlem Science |
issn |
2148-2373 2148-2373 |
publishDate |
2019-04-01 |
description |
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. |
topic |
Pseudohypoparathyroidism albright hereditary osteodystrophy normocalcemia short stature |
url |
http://bezmialemscience.org/archives/archive-detail/article-preview/pseudohypoparathyroidism-type-a-with-normocalcemia/20592
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work_keys_str_mv |
AT esrakutlu pseudohypoparathyroidismtypeiawithnormocalcemia AT ilkertolgaozgen pseudohypoparathyroidismtypeiawithnormocalcemia AT yasarcesur pseudohypoparathyroidismtypeiawithnormocalcemia AT gozdeyesil pseudohypoparathyroidismtypeiawithnormocalcemia |
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