Normokalsemik Seyreden Psödohipoparatiroidizm Tip Ia

Abstract

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.

Özet

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.