정상 신장을 보이는 위위부갑상선기능저하증

저자들은 AHO의 임상 소견을 보이나 키는 정상 수준이면서 혈청 칼슘, 인, 부갑상선 호르몬이 정상으로 나타나는 환자에서 GNAS1 유전자의 변이를 관찰하여, 정상 신장을 보이는 위위부갑상선기능저하증으로 진단하고 문헌고찰과 함께 보고하는 바이다. Pseudopseudohypoparathyroidism (PPHP) is characterized by the phenotype of Albright hereditary osteodystrophy (AHO) alone without biochemical evidence of multihormone resistance, which is unlike pseudohypoparathyroidism. AHO is associated with characteristic developmental abnormalities that include a short stocky stature, a short neck, brachydactyly, a round face, central obesity, mental retardation and subcutaneous ossifications. AHO is an autosomal dominant disease that`s caused by heterozygous inactivating mutations in the Gsα gene (GNAS1). Melanocortin-4 receptor (MC4R) is a hypothalamic Gs-coupled receptor that is thought to mediate the central effect of leptin on satiety. MC4R mutations cause morbid obesity starting in infancy, as well as an elevated leptin level. A 62 year old man with a height of 171.5 cm, a round face, a short neck, central obesity and brachydactyly had normal ranges of serum calcium, phosphorus and PTH and a normal Ellsworth-Howard test. GNAS1 gene analysis revealed substitution of alanine to cysteine in the 165 codon of exon 6 and substitution of alanine to cysteine in the 231 codon of exon 9. Two known SNPs (Cyt-1042Thy, Gua-719Ade) in the MC4R were detected in the patient. We report here on a case of PPHP and the patient had normal stature. We propose that MC4R may have contributed to the obesity & normal stature of this patient. (J Korean Endocr Soc 24:138~143, 2009)