ÖZET
Psödohipoparatiroidizm (PHP); parathormon hedef organ direnci olan, hipokalsemi, hiperfosfatemi ve kan parathormon (PTH) yüksekliği ile karakterize heterojen bir hastalık grubudur. Albright’ın herediter osteodistrofisi olarak da adlandırılan tip Ia’da tipik fenotipik bulgular ve ek hormon dirençleri de görülebilmektedir. Kısa boy, obezite, yuvarlak yüz, basık burun kökü, kısa metakarplar ve hafif mental retardasyon gibi Albright’ın herediter osteodistrofisinin tipik bulguları olan kız hastamız 8 yıl 9 aylık idi. Biokimyasal tetkiklerinde normal kalsiyum ve fosfor düzeylerine rağmen yükselmiş PTH düzeyi ve hipotiroidizm saptandı. Hastanın klinik ve laboratuvar bulguları normokalsemik seyreden PHP tip Ia ile uyumlu bulundu. Guanin bağlayıcı protein (G protein), alfa subunit 1 (GNAS 1) geni dizi analizi sonucunda daha önce PHP tip Ia’lı olguda bildirilen C-308T>C(p1103T) değişimi saptandı. Burada PHP tip Ia’da kan kalsiyum ve fosfor düzeylerinin normal saptanabileceğini vurgulamak istedik.
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