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Pseudohypoparathyroidism Type Ia with Normocalcemia

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dc.contributor.authorKutlu, Esra
dc.contributor.authorCESUR, Yaşar
dc.contributor.authorÖZGEN, İLKER TOLGA
dc.contributor.authorYesil, Gozde
dc.contributor.institutionauthorKUTLU, ESRA
dc.contributor.institutionauthorÖZGEN, İLKER TOLGA
dc.contributor.institutionauthorCESUR, YAŞAR
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2020-04-03T20:59:16Z
dc.date.available2020-04-03T20:59:16Z
dc.date.issued2019-04-01T00:00:00Z
dc.description.abstractPseudohypoparathyroidism (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.
dc.identifier.citationKutlu E., ÖZGEN İ. T. , CESUR Y., Yesil G., -Pseudohypoparathyroidism Type Ia with Normocalcemia-, BEZMIALEM SCIENCE, cilt.7, ss.170-173, 2019
dc.identifier.doi10.14235/bas.galenos.2018.2207
dc.identifier.trdizindoi.org/10.14235/bas.galenos.2018.2207
dc.identifier.trdizindoi.org/10.14235/bas.galenos.2018.2207
dc.identifier.trdizintrdizin
dc.identifier.urihttps://hdl.handle.net/20.500.12645/16226
dc.identifier.wosWOS:000499481800017
dc.language.isoen
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titlePseudohypoparathyroidism Type Ia with Normocalcemia
dc.typeArticle
dspace.entity.typePublication
local.avesis.id3e326ba4-05a5-49ef-a741-702c5ddafb1b
local.publication.goal03 - Sağlık ve Kaliteli Yaşam
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