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Journals / Dicle Tıp Dergisi / 2017 / Cilt: 44 - Sayı: 2

Pseudohypoparathyroidism Type 1A: Case Report

Psödohipoparatiroidi Tip 1A: Olgu Sunumu

Mehmet GÜVEN
ZAFER PEKKOLAY
Hikmet SOYLU
Belma Özlem Tural BALSAK
ALPASLAN KEMAL TUZCU
Pages
213–217
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Here, we present a patient, diagnosed with Albright's hereditary osteodystrophy and hypocalcemia that is treated by calcium, vitamin D

📌 3 Key Takeaways

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Objective & Hypothesis:Pseudohypoparathyroidism (PHPT); is a hereditary disorder in which the target organ does not respond to parathormone (PTH).
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Key Findings & Data:In addition to it's biochemical properties, Type 1A also has a characteristic somatic phenotype known as Albright hereditary osteodystrophy (AHO).
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Conclusion & Impact:Here, we present a patient, diagnosed with Albright's hereditary osteodystrophy and hypocalcemia that is treated by calcium, vitamin D
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Pseudohypoparathyroidism (PHPT); is a hereditary disorder in which the target organ does not respond to parathormone (PTH). Biochemically; it is characterized by the hypocalcemia, hyperphosphatemia, and elevated PTH. The response to PTH administration is markedly lower. In addition to it's biochemical properties, Type 1A also has a characteristic somatic phenotype known as Albright hereditary osteodystrophy (AHO). This phenotype is characterized by short stature, round face, frontal bubble, brachydactyly, obesity. Here, we present a patient, diagnosed with Albright's hereditary osteodystrophy and hypocalcemia that is treated by calcium, vitamin D

Özet

Psödohipoparatiroidizm (PHPT); hedef organın parathormona (PTH) yanıt vermediği kalıtımsal bir bozukluktur. Biyokimyasal olarak; hipokalsemi, hiperfosfatemi ve PTH yüksekliği ile karakterizedir. PTH uygulamasına verilen yanıt belirgin derecede düşüktür. Tip 1A, biyokimyasal özelliklere ek olarak Albright herediter osteodistrofisi (AHO) olarak bilinen karakteristik somatik bir fenotipe de sahiptir. Bu fenotipin, kısa boy, yuvarlak yüz, frontal bombelik, brakidaktili, obezite özelikleri bulunmaktadır. Burada biz, hipokalsemi ve Albright herediter osteodistrofisi tanısı koyduğumuz; kalsiyum, aktif D vitamini ile tedavi ettiğimiz olgumuzu sunduk

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Cite This Article

GÜVEN, M., PEKKOLAY, Z., SOYLU, H., BALSAK, B. Ö. T., TUZCU, A. K. (2017). Pseudohypoparathyroidism Type 1A: Case Report. Dicle Tıp Dergisi, Cilt: 44 - Sayı: 2, 213–217. https://ajindex.com/articles/200321

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