Kinard R E, Walton J E, Buckwalter J A
Arch Intern Med. 1979 Feb;139(2):204-7. doi: 10.1001/archinte.139.2.204.
A family consisting of a mother, a father with probable pseudopseudohypoparathyroidism (PPHP), two normal daughters, and four daughters with pseudohypoparathyroidism (PHP) have been observed for more than 15 years at North Carolina Memorial Hospital (NCMH). The studies performed on family members included (1) roentgenographic examinations of the chest, skull, hands, and soft tissues; (2) serum calcium, phosphorus, and immunoreactive parathyroid hormone measurements; (3) urinary cyclic adenosine 3'5'-monophosphate determinations following parathyroid injection; and (4) HLA and blood-type determinations. We review the genetic aspects of PHP. The findings in this family suggest an autosomal dominant mode of transmission in PHP.
在北卡罗来纳纪念医院（NCMH），一个由一位母亲、一位可能患有假性甲状旁腺功能减退症（PPHP）的父亲、两个正常女儿以及四个患有甲状旁腺功能减退症（PHP）的女儿组成的家庭已被观察了15年以上。对家庭成员进行的研究包括：（1）胸部、颅骨、手部和软组织的X线检查；（2）血清钙、磷和免疫反应性甲状旁腺激素测量；（3）甲状旁腺注射后尿中环磷酸腺苷3',5'-单磷酸的测定；以及（4）HLA和血型测定。我们回顾了PHP的遗传学方面。这个家庭的研究结果提示PHP呈常染色体显性遗传模式。
