Mehmet GÜVEN, ZAFER PEKKOLAY, Hikmet SOYLU, Belma Özlem Tural BALSAK, ALPASLAN KEMAL TUZCU

Psödohipoparatiroidi Tip 1A: Olgu Sunumu

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

Pseudohypoparathyroidism Type 1A: Case Report

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

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